Français

Government of Canada BioPortal

Home

Site Map

News Room

FAQ

Features

About Us

Meeting Minutes

Publications

Advice

Annual Reports

Consultations

Project Reports

Research

	2005
	2004
	2003
	2002
	2001
	2000
	1999

Topics

Biotech Watch

News Room

Dialogue Tool

Glossary

Population Biobanking in Canada: Ethical, Legal and Social Issues

Author: Lorraine Sheremeta

Background
1. “Biobank” Defined
Overview of Previously Commission Works
New Developments
Discussion: Major Issues for Canada to Consider Re Biobanking Policy

Overview of Large-scale Population Genetic Research Initiatives
Excerpts from the Government Response to the Work of the Medical Research Council Report by the House of Commons Science and Technology Select Committee
Summary of Canadian Privacy Legislation
Informed Consent: Information Relevant to Individual Participants in Population Genetic Research
Article 2.4
1. Commentary
Article 10.2
An Overview of International Statements Relating to Privacy and Genetic Information

Background

In 2002, the Canadian Biotechnology Advisory Committee commissioned a series of academic papers on issues associated with population genetic biobanks:

Survey of National Approaches to the Development of Population Genetic Biobanks, by Mylène Deschênes and Geneviève Cardinal
Toward a Comprehensive Information Privacy Regime for Research and Biobanks, by Michael Yeo¹
Whose Genes, Who's Safe, How Safe? Publics' and Professionals' Views of Biobanks, by Edna F. Einsiedel

These papers, in conjunction with a presentation titled “Biobanks, Research and Privacy: Overview of Canadian Legislation” delivered by Patricia Kosseim at the Genome Canada GELS Winter Symposium held in Montreal, Quebec in February 2003, provide the basis from which this synthesis document is derived.² The purpose of this paper is to summarize and synthesize the salient ethical, legal and social issues that are relevant to biobanking in Canada. Where necessary, I have supplemented these works with other relevant material to expand and develop arguments as needed.

In addition to the materials noted above, there are at least four recent developments that warrant comment and inclusion in this synthesis document:

The United Kingdom House of Commons Science and Technology Committee released a report titled “The Work of the Medical Research Council” ³ in which the committee levies harsh criticism at UK Biobank. In June 2003, the United Kingdom government publicly responded to the Committee's report. Appendix B contains a summary of the committee recommendations concerning Biobank along with the government responses⁴ to those recommendations.
In May 2003, in anticipation of bankruptcy, DNA Sciences Inc. sold substantially all of its assets, including its “Gene Trust” biobank, to Genaissance Pharmaceuticals.⁵ The issues arising from this transaction are important and highlight the need for firms to employ defensive legal strategies to obviate the possibility that biobanks may be sold as assets in the case of financial hardship or bankruptcy proceedings. This situation raises general concerns over the sale or other disposition of biobanks and related data.
In March 2003, the Canadian Biotechnology Secretariat released a new “wave” of public opinion research on biotechnology issues.⁷ A portion of the survey data refers specifically to DNA mapping and patenting, and the data from this portion of the survey are included in the relevant sections of this paper.
In August 2003, the Canadian Biotechnology Secretariat released a report titled “Public Opinion Research into Genetic Privacy Issues.”⁷ It is an important survey because it probes issues related to genetic privacy and biobanking and further contextualizes and reaffirms the tenor of the conclusions made by Professor Einsiedel concerning the publics' and professionals' views on biobanks.

In recent years, the storage and subsequent use of human biologic materials have become a hotly debated bioethical issue. Numerous professional organizations have issued statements that directly or indirectly touch on this issue.⁸ At least three important developments pertaining to the use of human tissue for clinical diagnosis and research have focussed attention on these issues. First, previously unforeseen uses have been identified for previously collected and stored tissue samples, and researchers are increasingly able to derive valuable genetic information from stored biological samples. Second, the research paradigm in genetics has shifted from linkage analysis of relatively small numbers of genetic samples to large-scale population genetic initiatives, which often involve the collection, storage and analysis of hundreds of thousands of samples. Third, with the advent of new, high throughput techniques to sequence DNA, there is a growing concern that the use of genetic and other medical information gleaned from these materials may be used in ways that violate individual privacy rights and could result in unfair discrimination against individuals and/or groups.

There is considerable optimism that society will benefit profoundly from innovations stemming from the Human Genome Project. It is hoped that analysis of data procured in large-scale population genetic studies will enable researchers to gain a better understanding of gene–environment interactions that are implicated in complex diseases such as heart disease, diabetes, Alzheimer's disease, multiple sclerosis and other commonly occurring human diseases. Numerous large-scale population genetic studies have been commenced and many more are at various stages of planning (see Table 1).

As with all technological advances, both risks and benefits are associated with population genetic studies. Despite the optimism that human health and well-being will ultimately be improved as a result of population genetic research, numerous ethical, legal and social concerns have been raised. For example, concerns regarding individual and group consent,⁹ ownership of human biologic materials,¹⁰ privacy and confidentiality,¹¹ genetic discrimination and stigmatization¹² and eugenics¹³ have been repeatedly raised. Academic researchers focussing on the ethical, legal and social issues of the Human Genome Project have initiated ample debate on these topics.

Table 1 –
Examples of Proposed and Existing Population Databases and Biobanks
Some Proposed Population Databases
Project	Company	DNA Sample Size	Budget	Status
Icelandic Health Sector Database	deCODE Genetics	280 000	$212 million	Health database in 2003; 80 000 samples genotyped
Estonian Genome Project	eGeen Inc.	1 million	$150 million	3-year, $2.5-million pilot (10 000 donors) commenced Fall 2002
UK Biobank	not known	500 000	$66 million	Full enrolment in 2004
Marshfield Personalized Medicine		40 000	$3.8 million	Enrolling Fall 2003
National Children's Study (U.S.)		100 000	not known	Full study begins in 2004
Latvian Genome Database	not known	60 000	$1.7 million	Law passed in June; seeking funding
Quebec CARTaGENE	not known	50 000+	$19 million	Seeking funding
Existing Biobanks and/or Health Records
Västerbotten, Sweden	UmanGenomics	80 000		Data use agreement with country in 2002
Mayo Clinic (U.S.)	not known	100 000		Prototype health database completed in July
European Prospective Investigation into Cancer and Nutrition (EPIC) (Europe)		350 000		Pooling data for cancer studies through consortium
Nurses' Health Study (U.S.)		63 000
American Cancer Society Cancer Prevention Study (CPS-II) (U.S.)		110 000
CDC National Health and Nutrition Examination Survey (NHANES III) (U.S.)		7 300		Proposals to use individual data requested fall 2002

Source: Jocelyn Kaiser, “Population Databases Boom, from Iceland to the U.S” (2002), 298 Science 1158–1161 at 1159.

At present, Canada is considering whether or not to commence a large-scale population genetic study.¹⁴ The Canadian Lifelong Health Initiative remains at the planning stages, although it is planned to commence as early as 2005. The proposed study would follow the health of 30 000 infants from across Canada for a defined time period or for the lifetime of the infant. It has not gone unnoticed that Canada's national health system, like those in the United Kingdom, Estonia and Iceland, provides an ideal setting for a study of this type. The proposed study will involve early psychometric testing to evaluate intellectual, emotional and social development, as well as detailed environmental measures. The study is significantly smaller than many other large-scale initiatives. For example, UK Biobank expects to collect data on 500 000 individuals and the Estonian Genome Project hopes to collect data on approximately one million individuals (three-quarters of the country's 1.4 million population).

Because of the nature of the cohort, the planners of the proposed Canadian Lifelong Health Initiative will face numerous legal and ethical challenges. The fact that the research subjects are minors and will be unable to consent for many years is problematic and will require added precautions to ensure the strictest protection of the research subjects. There is general agreement that Canadian publics must be involved in meaningful consultation about the initiative and that the project planners must be responsive to concerns raised by the publics. Questions remain concerning how such consultation ought to proceed. The first issue that ought to be addressed through consultation is the determination of whether Canadians should promote population genetic research generally and, in particular, whether we should promote this particular initiative. The fact that the planners of the project deem the study meritorious does not necessarily mean that the general publics will be of the same opinion.

Failure to apply the highest scientific, legal and ethical standards to this initiative or similar programs will inevitably undermine public trust and confidence in scientific development and the products of such research.¹⁵ The integrity of the project's development and of the research process itself is critical. Of the errors made in the development of the Icelandic health sector database, Wolfgang Edelstein aptly notes:

The procedural haste, the refusal to solicit the opinions of foreign experts (who have greater experience with industry/science/ethics conflicts), the unwillingness to take domestic criticism into account, the politicized and partisan debate in the case, the crude oversimplifications in the discussions and controversies over the biological processes basic to the inheritance of disease, the power of private interests, the plebiscitarian legitimation procedures in a case of subtle ethical, social and scientific controversy, all this is bound to raise a lot of misgivings, to say the least. It does not augur well for the search for consensual solutions of ethical conflicts in vulnerable domains of social life.¹⁶

These issues also apply to other established projects. For example, the United Kingdom House of Commons Science and Technology Committee has recently censured the Medical Research Council in the United Kingdom for prematurely allocating funds to Biobank before questions over the project's value and methodology have been addressed.¹⁷ In addition, the Committee alleges that “the scientific case for Biobank [was] put together by the funders to support a politically driven project.”¹⁸ The real debate in the United Kingdom over Biobank appears to have just begun.

If Canada wishes to pursue successful large-scale population genetic initiatives, it must heed these warnings.

“Biobank” Defined

In the previously commissioned works, and for purposes of this paper, a biobank is defined as a collection of physical specimens from which DNA can be derived, the data that have been derived from DNA samples, or both.

Population genetic biobanks may be classified according to:

their purpose (i.e., translational and basic science research, clinical research or clinical medicine)
whether they already exist, or are prospectively planned
whether they are temporary or permanent collections.

Population genetic research generally requires a biologic sample (frequently a blood sample or a buccal swab) from which the individual's genotype data are derived. Once these data are derived, they are stored in a database as “sequence data” and may also be linked to associated health information. In Canada, as in the United Kingdom, Iceland and Estonia, the linkage to health information would necessarily be facilitated by, and through, the publicly funded health care system.

The ethics of collection and storage of data and tissue in “biobanks” are frequently discussed in association with population genetic research. It should be recognized, however, that permanent or temporary collections of tissue are frequently established and maintained through of day-to-day clinical practice. For example human biologic materials are frequently obtained during diagnostic interventions or surgeries or where tissue or other material is obtained to determine the nature and extent of a disease. Where diseased tissue is removed after the diagnosis or treatment has been completed, a portion of the specimen is frequently retained — for future clinical, research, and/or legal purposes.¹⁹ In addition, volunteers may donate their bodies, organs, blood or other biologic materials for educational purposes, transplantation or research.

The specimens procured may be stored in a variety of forms including slides, paraffin blocks, formalin-fixed specimens, tissue culture or extracted DNA. Biologic samples may be stored in clinical or research laboratories or in specialized tissue banks or DNA banks that operate to provide samples to public and private laboratories for both clinical and research purposes. While it is often important for routine clinical care that physicians have access to these stored samples, there are concerns about whether or not, and in what circumstances, existing specimens may be used for research purposes. The concern arises because the consent obtained at the time of the initial collection may not have specifically referred to future research. The issues surrounding the collection, storage and use of human biological material obtained by researchers and by clinicians are frequently treated as discrete and separate, despite the inevitable overlap of clinical practice and research use.

It is important to note that prospectively created biobanks — like the one Canada is currently considering — will be less problematic than retrospective ones because participants can be appropriately informed about the uses to which their biological samples may be put; they can therefore consent to or refuse such uses. Having said this, there remains significant uncertainty about whether, or to what degree, patients can legally and ethically consent to unforeseen future uses of their biologic materials and associated data.²⁰ There is also uncertainty as to the legality of parental consent in the research setting. This paper focusses on the issues relevant to prospectively collected population genetic biobanks that will be used for translational and basic science research, as well as for clinical research. It is presumed that the collection would be of a permanent nature.

Top

Overview of Previously Commissioned Works

Survey of National Approaches to the Development of Population Genetic Biobanks, by Mylène Deschênes and Geneviève Cardinal

In this paper, Mylène Deschênes and Geneviève Cardinal consider various population genetic biobanks that have been developed around the world. Examples cited include CARTaGENE (Quebec), the Estonian Gene Bank, the Icelandic Health Sector Database (deCODE Genetics), Tonga (Autogen Ltd.), UK Biobank and the International Consortium's Genetic Variation Mapping Project (HAPMAP).²¹ These projects represent a range of models that Canada may consider in planning population genetic research. For present purposes, this paper focusses on a smaller subset of the broader group of population studies examined by Deschênes and Cardinal, namely, the Icelandic Health Sector Database, the Estonian Genome Project and UK Biobank.

These particular initiatives are important because of the nature of the studies, the volume of information that exists about them, and what they reveal about the specific issues that must be addressed by Canadian policy makers. In this analysis, Deschênes and Cardinal identify nine major themes for Canada to consider with respect to biobanking. The substantive conclusions respecting each theme are summarized in the table below:

Table 2 –
Nine Major Themes for Canada to Consider in Developing a Biobanking Policy
Theme	Key Points
Consultation (pp. 8–10)	Fair and effective public consultation must occur prior to the initiation of any population genetic research.
Recruitment (pp. 10–12)	Recruitment strategies are important and must seek to take into account the need to: maintain individual autonomy, privacy and confidentiality in the recruitment process ensure a fair distribution of risks and benefits among individuals in the subject population ensure that the recruited subjects are representative of the overall population. Recruitment strategies must be culturally sensitive and background information easy to understand. This means that multiple translations of information may be required. In Canada, legitimate access to information held by a private or public institution could be obtained through mechanisms foreseen in privacy legislation; because of the variations in provincial legislation, a cautious review of jurisdictional requirements is needed.
Consent (pp. 12–17)	Individual informed consent must be obtained to collect, to store and to use DNA samples and personal data in a population biobank. Consent forms should be adapted to reflect the benefits and risks for the population as well as the individual and should also address the issue of population benefit sharing. “Group consent” is neither practical nor desirable in the context of population genetic research. Public consultation should be undertaken and the opinion of the public should be properly considered if Canada intends to embark on a large-scale population genetic initiative.
Governance (pp. 17–22)	At present, there exists no coherent legal and ethical framework to accommodate the peculiarities of biobanking. Biobanks, though traditionally conceived of as pure research and therefore public sector endeavour, are becoming increasingly mixed with private industry. The commercial aspects of biobanking must be carefully managed so as not to undermine public support for such endeavours. A governance scheme must be transparent and accountable and must inspire trust in all stakeholders. There is a need to create an independent organization that would be responsible for overseeing the overall project and surveillance activities. Surveillance must focus on both management and operational issues. Ethical approval and monitoring of population genetic research should be required, regardless of who performs the research or where the research is performed. The principles contained in the Tri-Council Policy Statement (TCPS)²² should be applicable equally to public and private entities. However, specific concerns have been identified with regard to the TCPS: it does not apply to privately funded research the point at which a research ethics board should be consulted is not clear, nor is the proper composition of such a board the longitudinal nature of population genetic research projects requires the development and implementation of long-term monitoring and oversight mechanisms, an issue not adequately addressed by the TCPS the added difficulties posed by multi-centre trials with respect to ethical approval and oversight must be taken into account.
Commercialization (pp. 23–26)	Potential commercial application: populations and individual research subjects must be made aware, during the informed consent process, that research may lead to the development of commercial products, the filing of patent applications and the generation of revenue. Benefit sharing: the concept of benefit sharing stems from the notion that the human genome is a collective and vital interest of humankind and that the benefits and burdens of exploiting and sustaining the resource ought to be universally shared. Benefits should not be construed narrowly. The HUGO Ethics Committee Statement on Benefit Sharing states that they may include “agreements with individuals, families, groups, communities or populations that foresee technology transfer, local training, joint ventures, provision of health care or information infrastructures, reimbursement of costs, or the possible use of a percentage of any royalties for humanitarian purposes.”²³ Freedom of access: liberal though carefully controlled access by researchers to population genetic data is in the best interests of subject populations and accords with the traditional norms of science. Exclusive licensing of biobanks to a single or to a select few commercial entities is ethically and legally problematic. Conflict of interest: the interests of the subject population must be appropriately represented in commercial transactions that involve data derived from population genetic research.
Privacy (pp. 27–30)	Because of the highly personal and sensitive nature of the information stored in biobanks and associated databases and because of the volume of the data to be amassed, very strict physical, procedural and electronic safeguards are required to protect the information that is entrusted by participants to researchers: biobanks must be physically protected; the research protocol should outline the exact storage conditions, including security measures and access requirements access to biobanks for non-medical research purposes (i.e., to law enforcement agencies) should be prohibited or participants must be made aware of those circumstances in which data may be released to third parties access to biobank data for research purposes should be controlled by a guardian or custodian that does not itself perform research and that will ensure the required level of confidentiality is met prior to release of data precautionary measures must be developed for data processing and linkage between databases staff must be made aware of their duty to protect the privacy and confidentiality of biobank data and that failure to carry out that duty will result in appropriate disciplinary action. An independent authority (i.e., the Privacy Commissioner or other mandated authority) should play a role in supervising data protection and ensuring compliance with privacy laws and regulations. Criminal or other sanctions may be necessary and appropriate in circumstances of wrongful disclosure of confidential data. Estonia and Iceland provide harsh penalties including fines and/or imprisonment for wrongful disclosure of personal biobank-related information. In Estonia, participants whose data have been wrongfully disclosed may request the complete destruction of their biological samples and related information.
Communication of research results (pp. 31–34)	Populations involved in large-scale genetic research should be regularly informed of research results. Frequent communication to the study participants is a way to show respect and appreciation for their efforts and will foster mutual trust between researchers and participants. Results of population genetic research must be communicated in a way that will encourage understanding of the information; researchers must avoid the adverse effects of public disclosure of research results without full explanations. The scientific community is obliged to participate in a dialogue concerning the results of research – to ensure that the results are scientifically accurate and are understood by the populations, families and individuals that participate in and are affected by the research.
Welfare of the population (pp. 34–37)	Thorough reflection must be undertaken on the relative risks and benefits of population genetic research. Because population genetic research poses risks to an entire population, it is important that societal benefits outweigh societal risks: potential benefits of population genetic research include health benefits, improved population health care strategies, the creation of a repository of information and biological samples that may be useful for future research, economic benefits and collaborative research ventures potential risks of population genetic research include adverse economic effects, discrimination (employment, insurance), inappropriate disclosure and/or use of sensitive and personal information and the possibility that human genetic material could inappropriately be used for human reproductive cloning or bioterrorism.
Welfare of Humanity (pp. 37–38)	The universality of the human genome and the bioethical principles of beneficence and justice demand the sharing of knowledge about the human genome. Scientific discoveries that depend on the human genome should be channelled toward the improvement of global health; benefits should not accrue preferentially to the developed world at the expense of the developing world. Benefit-sharing mechanisms, the granting of unrestricted access to genetic sequence data by researchers, and mechanisms to limit negative effects of conflicts of interest will help to ensure that the benefits of human population genetic research will accrue fairly to participating populations and to the global community.

Top

Toward a Comprehensive Information Privacy Regime for Research and Biobanks, by Michael Yeo

In his paper, Professor Michael Yeo paints a view of society in which individual privacy is increasingly “under siege from a variety of interests which may or may not be noble and benign to greater and lesser degrees” (p. 5). Biobanks are but one of the many ways that personal information is collected, stored and used (whether appropriately or inappropriately).

The fact that population genetic data are typically stored as a searchable and permanent record means that there is some degree of risk that the information contained in biobanks could be used in ways that are contrary to the interests of the individuals volunteering for the research and to whom the data refer, or to the larger groups to which the individuals belong.

Because the issues raised by population genetic research and biobanks are societal in nature, they demand broad community discussion to ensure that societal benefit outweighs societal risk. These discussions must be resolved prior to the initiation of a population-based biobank and must serve to ensure that there is a measurable balance struck that will ensure transparency and accountability (p. 3). Though many of the putative risks associated with biobanks are indirect and speculative, they are probably real and must be taken seriously, and the broadest concerns of the public must be considered. That said, the growing corpus of provincial privacy legislation dealing specifically with health information attests to the fact that privacy is an issue of significant concern in Canadian society. Cutbacks to government funding of health care, in combination with increased demands for access to data, are creating additional challenges to the system. Despite this, the need for highly sophisticated and secure linkages between biobanks and publicly collected health information must not be underestimated.

Yeo places health professionals and medical researchers in the general category of the many who seek access to information. He notes that they acknowledge the value of privacy protection of personal health information, yet argue that their specific use of protected information should be treated as an exception to the general rule. They accept that privacy is important, but justify their proposed use as being “very important” and clearly “in the public interest” (p. 5, citing Freeman and Robbins). Some expect their uses to be exempted from the consent requirement; most expect that any requirements imposed will not unduly impede access to the information they seek. Medical researchers are unlikely to view themselves in the broader context of the many others with competing (and virtually identical) arguments to obtain access to information.

With respect to the various interpretations of privacy, Yeo notes that there is no single definition that captures all that the concept of privacy encompasses. He describes privacy as an “essentially contested concept,” providing a number of examples (at p. 21). Definitions of privacy provided by Yeo include:

“The right to be let alone.” (Warren and Brandeis, 1890)
“The claim of individuals, groups or institutions to determine for themselves when, how, and to what extent information about them is communicated to others.” (Alan Westin, 1984)
“The extent to which we are known to others, the extent to which others have physical access to us, and the extent to which we are the subject of others' attention.” (Gavison, 1984)
“The control we have over information about ourselves.” (Fried, 1984)

Yeo notes that there are numerous concepts related to and overlapping with the concept of privacy, including ownership, autonomy, dignity, trespass, intrusion, intimacy, anonymity, secrecy, security, solitude and inviolate personality (p. 21). It can be argued that genetic information encompasses many of these; however, it can also be argued that these data transcend this list because they are related not only to the individual from whom they were obtained, but also to his or her family, as well as to the broader community or communities to which the individual belongs. Significantly, Yeo notes:

Because the concept of privacy is as rich, evocative and amorphous as it is, it serves as a kind of magnet for anxieties and concerns about rapid social and technological change that are fuzzy and hard to articulate. Its evocativeness and amorphousness is no doubt a detriment in some respects, but can also be seen as a virtue to the extent that it enables voice for worries that otherwise might not find a name or expression. (p. 23)

Because the sense of self varies considerably from culture to culture, differences between groups must also be taken into account when considering the impact of population genetic research. For example, Dr. Frank Dukepoo, an aboriginal geneticist, has stated:

To us, any part of ourselves is sacred. Scientists say it's just DNA. For an Indian, it is not just DNA, it's part of a person, it is sacred, with deep religious significance. It is part of the essence of a person. (Yeo, p. 10)

In recognition of the fundamental tension that exists between privacy and research, Yeo examines emerging developments in research and biobanking from the perspective of privacy. He attempts to create a framework within which one can “identify, discuss and debate privacy-related issues and concerns.” What emerges is a recognition that privacy has several different meanings and encompasses a variety of values. Because of this, individuals will have differing views as to the proper balance between strict privacy and the free sharing of genetic data and health information to facilitate medical research. Yeo elaborates on two main perspectives on privacy: self-determination and benign stewardship. He suggests that both perspectives must be taken into account in the development of an accountable regulatory framework that will protect privacy. Table 3 provides a summary of these two perspectives.

Table 3 –
Summary of the Principles and Ideologies to Consider in Developing a Comprehensive Regulatory Framework for Biobanking in Canada
Fair Information Principles
Accountability Identifying Purposes Consent Limiting Collection Limiting Use, Disclosure and Retention	Accuracy Safeguards Openness Individual Access Challenging Compliance
Self-determination Liberalism Deontology Autonomy Rights Consent-based Accountability	Benign Stewardship Communitarianism Utilitarianism Beneficence Non-maleficence Utility Safeguards
Self-determination Frame The individual has a right to control the collection, use, and access to his or her personal information. The individual also has a right to know: who else may obtain access circumstances in which information may be collected, used, accessed or disclosed without authorization potential harms that may accrue if information is disclosed the practices and policies of the data steward safeguards that are in place to address the risks. Individuals have the right to participate as citizens in a free and democratic society and not merely as “data subjects.” Accountability	Safeguarding Frame Protocols in place to authorize information use and mechanisms to ensure that information flows as authorized Confidentiality agreements, oaths and promises elicited from those with access to information; penalties against unauthorized use or access Training of information users and other persons who are part of the regime with respect to protocols, roles and responsibilities Security measures, including locks, passwords, encryption, firewalls, etc. to prevent unauthorized users from accessing information Incorporation of privacy enhancing technologies such as audit trails Procedures for anonymizing, deidentifying or coding information Internal policy standards that are appropriately communicated and publicized External regulatory standards (law, policy, professional codes) to which the steward can be held accountable Institutional privacy officers or committees to monitor compliance with organizational policy and external regulatory standards Independent, external oversight bodies (e.g., privacy commissioner) Proxy bodies (e.g., ethics committees or community panels) standing in the place of individuals and communities whose information is being held in trust. Privacy impact assessments to map data flow and to assess safeguards and policies to enable the steward to perfect the information regime and to promote transparency Accountability
Comprehensive Regulatory Framework

A comprehensive regulatory framework for privacy will, of necessity, include provisions addressing the two main sorts of issues. For example, while a volunteer may have the right to withdraw from participation and may request to have his or her biologic sample and associated data destroyed, there are corollary safeguarding provisions that must be in place to make withdrawal possible. Yeo creates a compelling argument that any privacy policy that attempts to define the rights and responsibilities associated with genetic information and biobanks must seek to integrate the principles enshrined in both perspectives.

The risks associated with biobank research and the responsibilities incumbent on the researcher may be abstracted from Yeo's paper and are summarized in Table 4.

Table 4 –
Risks and Responsibilities Associated with Population Genetic Research
Risk	Responsibility
Adverse societal effects Loss of individual privacy Potential breadth of research questions Scale of project	Need for public consultation Need for: transparency, accountability and reassessment of the current governance framework Need to consider impact on informed consent norms Need to explore public funding and innovation strategies

In summary, Professor Yeo reaches the following conclusions:

Large-scale biobanks are more akin to business organizations than to research structures as traditionally conceived, and the existing legal and ethical framework that governs research is not adequate.
Biobanking and applied genetics research differ significantly from other research endeavours that involve human subjects. These differences warrant amendments to the current legal and ethical regime or require the development of a separate regulatory regime. Specifically, in Canada, consent issues are not adequately addressed in the existing regulatory framework.
Biobanking requires the development of an accountable regulatory framework that incorporates the legal and ethical norms governing human subject research and the evolving ethical norms of corporate governance.

Top

Whose Genes, Who's Safe, How Safe? Publics' and Professionals' Views of Biobanks, by Edna Einsiedel

Professor Edna Einsiedel's paper seeks to identify the views of the publics and of professionals that are relevant to genetic technologies generally, and to biobanks in particular. The data presented in this paper are derived largely from papers published in peerreviewed journals (predominantly Science and Nature) or from published reports that have emerged as a result of the development of the Icelandic Health Sector Database and UK Biobank. Einsiedel's paper is composed of two distinct parts. The first focusses on the views of the general public and advocacy organizations; these groups comprise the “unorganized public.” The second part of the paper concerns the views of professionals, who are defined to include geneticists, genetic researchers, genetic counselors, research coordinators, members of research ethics boards or institutional review boards, physicians, ethicists, legal experts and epidemiologists. Table 5 lists specific issues that are considered by Einsiedel with respect to public and professional perspectives.

Table 5 –
Public and Professional Perspectives Relating to Biobanks: Summary of Issues Considered
Perspective of the Publics	Perspective of Professionals
Public awareness and understanding The need for more information The role of the media Recruitment and participation Informed consent Feedback Confidentiality Ownership and control of databases Commercialization of genetic information Human rights issues	Informed consent Consent to future uses Confidentiality and privacy Feedback Human rights issues Individual rights versus community rights Commodification of the human body Questions of identity Reductionism Concerns of professionals: commercialization non-research use of databases governance issues

Specific data have been extracted from Einsiedel's paper and incorporated into topical summary tables in the relevant subsections of Section 4 of this paper.

While providing a comprehensive collection of snapshots of publics' and professionals' views on specific issues from the international perspective that are useful to consider, Professor Einsiedel notes that it is critical that Canada endeavour to gain an understanding of the issues from the Canadian perspective. Canada is a large, geographically diverse territory with a diverse population, but within this larger heterogeneous community there are small homogenous subpopulations (i.e., French Canadians, Newfoundlanders and various aboriginal communities). Disparities in local needs and interests must be well understood if Canada is to embark on successful large-scale population genetic initiatives. In summary, Professor Einsiedel concludes that:

If publics are to be meaningfully engaged in debates about genetic technologies, they need to be able to:
- assess benefits and risks of genetic technologies in a rational way
- understand the limits of the science
- consider the ethical, legal and social dimensions of these issues.
Public education initiatives must provide genuine opportunities for engagement and deliberation and permit individuals to reach an informed opinion about the issues.
“Meaningful dialogue” (i.e., that which is “mutually informative, thoughtful, honest, and carries the possibility of being mutually transformative”) should be fostered between scientists, other stakeholders and the public (p. 41, citing McLean, 2001).
Canada may wish to consider developing a communication plan similar to that recommended by the Centers for Disease Control in the U.S. to “assess information needs of various audiences, develop messages, and select media for disseminating information about genetics and public health. Use the Internet as one distribution mechanism. These activities will ensure that the dissemination of information is coordinated, accurate and timely” (p. 40).
Public engagement is a critical requirement before Canada embarks on a large-scale population genetic research initiative: meaningful public involvement demands posing the question of whether such a venture is worthwhile and is an appropriate use of public funds (p. 42).
For individuals to make an informed decision about whether to participate in a large-scale population genetics initiative, they must have information regarding the purpose(s) of the research, the conditions for maintaining privacy and confidentiality, consent conditions for future access and/or secondary uses of the data, conditions for storage and maintenance, oversight mechanisms, and the potential for commercialization (p. 42).
Because the implications of population genetics research are far-reaching, it is important that if Canada opts to develop a large-scale initiative (or initiatives), the governance framework should include an independent oversight committee with public representation (p. 42).
There may be a role for a national standing oversight panel (research ethics board) to review and monitor biobank research, keep track of the project history, develop and maintain periodic reports, serve as a resource for ethical, legal and social issues and provide a forum for ongoing national discussion (p. 44, citing Martin, 2001).

Top

New Developments
1. United Kingdom House of Commons Science and Technology Committee Report
  
  On March 25, 2003, the United Kingdom House of Commons Science and Technology Committee released its report titled “The Work of the Medical Research Council.”²⁴ Although the report is based on an evaluation of the scope of work of the Medical Research Council (MRC), it is devoted in large part to the Biobank project. The report alleges that, within the MRC, there is generally evidence of poor financial management, poor planning and too many funds being committed over too long periods, leading to large numbers of topquality grant proposals being turned down. In this report, the MRC is accused of implementing misguided strategies for its research support that have resulted in discrimination against young researchers and some disciplines.
  
  The committee specifically alleges that UK Biobank is a “politically driven project”²⁵ that was established without full confidence of the research community and the public. In fact, the committee alleges that funds (including a 45-million-pound grant from the MRC were allocated to the project before the scientific questions over its value and methodology were fully addressed²⁶ and that consultation for Biobank was “a bolt-on activity to secure widespread support rather than a genuine attempt to build a consensus on the project's aims and methods.”²⁷ UK Biobank is described as a top-down initiative, the merits of which have not been properly balanced against other potential funding options.
  
  The United Kingdom government responded to the committee's criticisms in June 2003.²⁸ In essence, while recognizing the challenges facing the MRC and the general need to improve in the areas of financial management, long-term planning, evaluation and communications, the government defended the MRC's research strategies on the basis that they were developed by the MRC in consultation with a broad range of organizations.
  
  Specific criticisms levied by the committee with respect to UK Biobank and the government responses to those criticisms are appended to this paper (see Appendix B). In addition, specific issues are highlighted in the relevant subsections of Section 4 of this paper.
  
  Top
2. DNA Sciences Inc. Sale of the Gene Trust to Genaissance Pharmaceuticals
  
  In recent years, the United States has seen an emergence in the development of commercial biobanks that operate to meet the need growing need for human tissue, DNA and associated data in the public and private sectors.²⁹ Detractors are concerned about the ethical appropriateness of the free-market approach in this field³⁰ and about the lack of protection for human research participants in the United States.³¹ Gaps in the federal regulatory system effectively make federal research guidelines inapplicable to privately funded research or commercial endeavours.³²
  
  Whether private or public entities are involved in commercial biobanking, there are real opportunities for approaches that are antithetical to modern ethical standards. One news report describes the sale of neonatal blood samples by the South Carolina state government to a private company for use in the development of genetic testing kits and also to the law enforcement division for baseline studies of DNA markers.³³
  
  Without the use of specific legal protections, commercial biobanks may be unable to adequately protect the interests of biobank participants. The sale of DNA Sciences Inc. reveals that this may be especially true in times of financial hardship or when bankruptcy proceedings are commenced.
  
  DNA Sciences, Inc.,³⁴ now defunct, was an applied genetics company based in California that focussed its business development on the discovery and commercialization of DNA-based diagnostic tests. By creating the Gene Trust,³⁵ DNA Sciences Inc. sought to establish a database of information about individuals that included physical characteristics, health histories and ongoing data concerning medical treatment and effectiveness. To facilitate its work, DNA Sciences utilized the Internet to attract Gene Trust volunteers who were asked to provide contact information and a personal family health history. If found to be an appropriate volunteer, informed consent was elicited and a blood sample was obtained and analyzed.³⁶ The DNA Sciences Web site reported that more than 10 000 participants from all 50 states were registered in the Gene Trust.³⁷
  
  As part of the recruitment strategy, the “Gene Trust Bill of Rights”³⁸ assured participants that personally identifying genetic information would never be sold or shared with anyone outside the Gene Trust; once collected, information was to be made anonymous and the Gene Trust researchers would use anonymous data only. Genetic information would never be supplied to employers or insurance companies, human cloning would not be undertaken and DNA Sciences would not be associated with any such practices. Participants were free to withdraw at any time, for any reason and without penalty. ³⁹
  
  DNA Sciences assured participants that personally identifying information would never be shared “with any person or entity outside DNA Sciences without your express consent, unless legally required to do so.” ⁴⁰ The privacy statement is laudable but likely irrelevant in light of the fact that the consent form signed by participants contained a provision permitting DNA Sciences to transfer samples and anonymized medical data to a third party.⁴¹ On May 15, 2003, Genaissance Pharmaceuticals announced that it had entered into an agreement to acquire substantially all of the assets of DNA Sciences.⁴² This agreement includes the Gene Trust DNA samples, the anonymized medical history data, and the computer systems that hold personally identifying data on the Gene Trust donors.⁴³ At this time, Genaissance Pharmaceuticals does not intend to continue the Gene Trust. The situation, however, raises many legal and ethical questions that must be considered by Canadian policy makers.
  
  In Canada, corporate entities could be used as vehicles to “own” public biobanks. The possibility that the corporation could go bankrupt or would be wound up must be considered at the outset to ensure that human biological samples, DNA sequence data, medical history data and other personal information will not be inappropriately “sold off” to a third party. As part of this framework, a legal trust could be employed to protect a biobank from falling into a corporation's general asset pool and sold off. The biobank could, in essence, be held by the corporation in trust for (i.e., for benefit of) the participants whose data are held in the biobank. In Canada, issues of corporate governance need to be further explored in relation to biobanks.
  
  Top
3. Public Opinion Research into Biotechnology Issues – Eighth Wave
  
  Since 1999, the Government of Canada's Canadian Biotechnology Secretariat and its partners have maintained a large-scale program of public opinion research involving 10 public opinion surveys and more than 75 groups. These studies represent North America's largest and most comprehensive investigation into attitudes about biotechnology and the public policy that surrounds it. The program is designed to produce two waves of research each year, with a large tracking component and chapters of more intensive inquiry into specific issues like “genetic privacy.” Results have been remarkably consistent since the inception of the research program.
  
  The eighth wave of research, completed in March 2003, represents a cross-national study of attitudes toward biotechnology in Canada and the United States. Released in August 2003, the research is based on telephone surveys of 1000 Americans and 600 Canadians using a single questionnaire. The survey was designed to meet two main objectives:
  - track public sentiment on a range of biotech issues in the Canada, using a baseline of data developed in previous waves of research
  - compare attitudes among Americans and Canadians.
  This survey is of interest because it specifically asks several questions with respect to DNA mapping and the patenting of genes. Specifically, Canadians are described as “cautiously supportive of progress and of science.” Seventy-eight percent of Canadians see more benefits than drawbacks in the areas of DNA mapping. Approximately half are uncomfortable with the idea of patenting in the area of biotechnology. Results of this survey are incorporated into the relevant subsections of Section 4 of this paper.
  
  Top
4. Public Opinion Research into Genetic Privacy Issues
  
  POLLARA Inc. and Earnscliffe Research and Communications jointly performed surveys and hosted two focus groups to elicit public opinion on privacy issues associated with genetic information in February and March 2003. The results of this research were released in August 2003. The study is important because it helps to put into context the findings presented by Edna Einsiedel, and it deals specifically with issues surrounding biobanks.
  
  The survey reveals, not surprisingly, that “[t]he concept of biobanks is not yet fully formed in the [Canadian] public mind” (p. 10). In summary, the survey reached the following conclusions:
  - People do not understand how population health or genetic studies are conducted.
  - People are increasingly aware of research strategies to trace genetic histories through families and to gather data from related people.
  - People think of biobanks in terms of information and not in terms of physical samples.
  - People have difficulty contemplating the collection and storage of large volumes of genetic information.
  - People have no idea whether biobanks are prevalent or who might be administering them.
  - People presume the regulations governing biobanks would tend to be relatively lax, largely because biobanking is a new phenomenon. (pp. 10–11)
  Results of this survey are incorporated into the relevant subsections of Section 4 of this paper.
Top

Discussion: Major Issues for Canada to Consider Re Biobanking Policy

This discussion provides a synthesis of the major ideas gleaned from the previously commissioned works. The subsections on privacy and confidentiality depend heavily upon multiple external sources. The following issues are addressed here:

consultation, education and the role of the media
recruitment
privacy and confidentiality
informed consent and communication of research results
commercialization
governance issues.

Consultation, Education and the Role of the Media

Authors of the previously commissioned papers have unanimously concluded that prior public consultation is a necessary first step if Canada is to be committed to the idea of initiating a large-scale national biobank project (Deschênes and Cardinal, p. 10; Einsiedel, p. 44–45; Yeo, p. 58). Successful population genetic research depends directly on public goodwill and trust. The processes of implementation must therefore be based on transparency, public discussion and genuine debate (Deschênes and Cardinal, p. 8). Consultation is important for a number of reasons, not least of which is that it may help to uncover specific weaknesses inherent in the proposed study design, particularly those elements that, if not corrected, will undermine effective communication between researchers and the subject population and the population more broadly. In addition, although not part of the informed consent process, consultation will enable thoughtful reflection by potential research participants and the broader community on relevant issues and will facilitate a more robust informed consent than would otherwise be possible. Consultation has the potential to open a meaningful dialogue between the research participants and the research team and to facilitate meaningful democratic participation of citizens.

Einsiedel notes that the development of the Icelandic health sector database set off an international debate over issues relating to genetic information and biobanks (p. 7) and that, largely as a result of the Icelandic controversy, UK Biobank was conceived by the MRC and the Wellcome Trust with the specific intent of proactively understanding and responding to stakeholder concerns. Accordingly, a number of consultation studies were commissioned and reports published.⁴⁴

Despite these consultative efforts, a recent report of the United Kingdom House of Commons Science and Technology Committee⁴⁵ harshly criticizes the consultation process employed by the MRC (see also Yeo, pp. 57–58). In light of this criticism, careful consideration must be given to the development of consultative strategies that will yield information that will impact project planning, that will engender a collaborative relationship between researchers and the population and will not be viewed as a means to further a political agenda (Deschênes and Cardinal, p. 10). If executed in bad faith or if poorly performed, consultation will inevitably undermine trust between the numerous publics, the scientific community and policy makers.

To be effective, consultation must be broadly reflective of stakeholder concerns. A nonexhaustive list of stakeholders in the context of biobanking includes: the participants (and their relatives or fellow “group” members), the researchers and the research community, health care providers, agencies that fund research, regulating bodies, other users of data, special interest groups and the media.⁴⁶ Yeo concurs with the recommendation of Quebec's Commission de l'ethique de la science et de la technologie that “all population genetic databases for mapping a population's genes or conducting research on population genetics first be submitted to an informed public to actively involve them in the decision-making process” (Yeo, p. 56). Table 6 provides a summary of various public consultation strategies that Canada may wish to employ.

Table 6 –
Public Consultation Mechanisms
Approach	Strengths	Inadequacies
Public opinion surveys	Representative	Superficial coverage of issues
Focus groups	In-depth exploration of reasoning, bases for preferences	Not generalizable
Deliberative consultation	Learning opportunities for lay and expert panels Interactions with experts, more extensive deliberation	Time and resource intensive Fewer individuals involved
Stakeholder consultation	Stakeholders' familiarity with issues Involvement of those with direct benefits or risks	Exclusion of general public
Community consultation	Critical where collectivity is highly valued	Challenge to determine who should represent the community
Web-based consultation	Larger numbers participating Quick and ongoing information sharing	Individuals selected by technological ability/access/prejudice Data may not be generalizable
Lay representation on expert committees	Broadened base for considering issues beyond technical considerations	Lay member opinions may be marginalized by expert members

Source: Einsiedel, p. 43.

If publics (and other stakeholders) are to participate in a meaningful way in decisions that affect them, they must have access to adequate information upon which their deliberation and the decision-making process can be based. The degree to which publics are knowledgeable about certain topics is variable and is dependent on many factors (Einsiedel, p. 10). People may or may not be well informed about a given issue for a number of reasons. They may be passively or actively disinterested: they may be too busy or have no interest or they may decide not to learn about a particular topic. Importantly, disinterest is not necessarily reflective of negative sentiment.

People may be misinformed about an issue due to incorrect or exaggerated information in the popular media. Although the scientific community cannot control the way in which popular media report scientific progress, it can be aware of the importance of the popular media in conveying information to the public. Scientists must consider it their obligation to accurately portray scientific developments to the media and to avoid promoting overly hyped representations of their work. The media should work closely with the scientific community to ensure accuracy and objectivity in their reporting.

Because of the likelihood that publics are currently uninformed or misinformed about genetic technologies, meaningful consultation must depend on engaging and enabling a sufficiently large number of individuals to consider relevant issues once they are provided an appropriate knowledge base.

Canadian funding agencies and/or private partners must accept that public consultation is an essential part of the overall Biobank initiative. Funding requirements for consultation must be budgeted appropriately and considered as part of the overall project strategy (Deschênes and Cardinal, p. 10).

Summary: Consultation, Education and the Role of the Media

Public education and consultation are necessary first steps if Canada is to be committed to the idea of initiating a large-scale population genetics initiative.
The consultative process should begin as early as possible in the development of any proposed initiative and should continue for the duration of the initiative.
The consultative process must be transparent.
Negative outcomes arising from consultation must be acknowledged and clearly and honestly addressed as they are identified.
To enhance the value of public consultation, several consultative mechanisms should be employed. A variety of critical, qualitative and quantitative approaches will enable a comprehensive understanding of public (and other stakeholder) sentiment.
Consultative strategies must incorporate an educational component that will provide a sufficiently detailed knowledge base upon which informed decisions can be based.
Consultation may be useful in determining how best to convey the concepts of risk and uncertainty to various publics.
Consultative strategies must be developed to examine the long-term influence of mass media coverage of genetic technologies on biobanking as well as the tools introduced to engage in community-wide consultation to address the issues raised by popular media coverage.

Top

Recruitment

It is an ethical requirement for the scientific validity and the design of proposed population genetic research to be well founded.⁴⁷ Participants in population genetic research must be selected by methods that are supported by scientific, legal and ethical imperatives (Deschênes and Cardinal, p. 10). For example, procedures employed in the recruitment of individuals for research protocols must respect the privacy and confidentiality of the persons (and relatives of those persons) that comprise the potential cohort, and the procedures must be in accordance with privacy legislation within that jurisdiction. In addition, there is a need to ensure that particular segments of the population will not reap unfair benefits nor be unfairly burdened as a result of participating in population genetics research.

The use of personal data to recruit research participants falls under privacy legislation (Deschênes and Cardinal, p. 12). Canadian privacy legislation, at both the federal and provincial levels, generally foresees mechanisms whereby nominative data may be accessed for research without consent if certain conditions are met (for a more detailed discussion, see Section 4.4 of this paper). In the interest of privacy protection, mechanisms for recruitment could be developed wherein participants are notified of the study by provincial health ministries, national bodies responsible for the protection of personal data (e.g., Ombudsman or Privacy Commissioner) or other appropriate institution (e.g., the Canadian Institutes of Health Research). Participants could then be recruited through their general practitioners, medical specialists, or other health care providers. Mechanisms for recruitment that are specifically referable to Canada's health system and the behaviour of patients within the system must be developed.

To ensure that population genetic research will be representative of the overall population, various strategies are recommended. One possibility is the development of a national information campaign to inform the public about population genetics research, including the objectives of the study, the risks and benefits of the research (to the individuals and to society) and proposed safeguards to maintain data security. A national campaign may be coupled with the development of local recruitment strategies to ensure that individuals who are eligible to participate have an opportunity to do so and have information on how to earn more about the project. Local strategies may be developed to endeavour to include individuals from disadvantaged groups (e.g., the low-income population) and individuals living in rural areas. Communication strategies are key and should also be used to reach those whose first language is not English or French.

Professor Einsiedel notes that the public's willingness to participate in research appears to be mediated by the nature and quality of the information individuals have and how much trust is placed in the medical profession and governing institutions as well as the laws in place to protect them (p. 20, citing Cragg, Ross and Davis, 2000). Individuals are not likely to participate if they are concerned that information obtained about them can be accessed by employers, insurance companies or the police. People are inclined to participate in clinical research if they think their participation will help others and if participation is not too onerous (p. 21).

Summary: Recruitment
- The scientific validity and study design must be well founded prior to recruitment of participants in population genetics research.
- Methods of recruiting participants must be supported on scientific, legal and ethical grounds.
- Mechanisms for recruitment that are specifically referable to Canada's health system and the behaviour of patients within the system must be developed.
- Recruiting strategies must take into account the need to fairly distribute the benefits and burdens of population genetics research to the entire population.
- Meaningful public consultation, genuine debate and educational strategies are likely to maximize willingness to participate in population genetic research.
- The development of a non-coercive national communication and education strategy will help ensure that population genetics research will be representative of and applicable to the entire population.
- Local communication and recruitment strategies should be developed to take into account regional differences and to include participants from all segments of society, including groups that have been traditionally disadvantaged (e.g., the poor, aboriginal communities).
- Participation in population genetic research may be maximized if individuals are assured that they will be recontacted if information is discovered that is relevant to their health status. Enhanced participation based on recontact must be weighed cautiously against the additional burdens in terms of cost, liability, etc. that would arise from such a promise.
- To maximize a population's willingness to participate in population genetics research, assurances should be made that the data collected will be accessible to researchers only for certain clearly defined health-related purposes. For example, participants should be assured that data contained in a population genetic biobank are not accessible to third parties for non-health-related purposes (e.g., law enforcement).
Top

Privacy and Confidentiality

Privacy

Privacy and confidentiality have frequently been treated as a single concept with interchangeable descriptions. Though closely related, the concepts are distinct. The right to privacy gives an individual the right to control who has access to his or her personal information. For example, individuals have a right to decide whether or not they wish to participate in population genetics research and whether or not to give researchers access to biological samples, associated genetic sequence data derived from the biological samples, personal demographic information, personal health information and genealogical data. Once an individual agrees to participate in research and once information is disclosed to the researcher, the researcher is obligated — both legally and ethically — not to disclose the information to others without permission from the participant. The very nature of DNA makes it uniquely sensitive (Deschênes and Cardinal, p. 27). Concerns exist, for example, that employers, insurance companies or law enforcement agencies might obtain and misuse genetic information (Einsiedel, p. 13, citing Canadian Medical Association). Interestingly, most Canadians (more than 90 percent) view genetic information differently from other types of personal information and would like to see stricter rules governing it (Einsiedel, p. 13, citing Pollara and Earnscliffe). In particular, 70 percent of Canadians think that legislation to protect the privacy of health information should apply to both the private and public sectors (Einsiedel, p. 16, citing Canadian Medical Association).

Privacy, once described simply as “the right to be let alone,”⁴⁸ has matured into a concept that is focussed on preservation of an individual's dignity and autonomy;⁴⁹ it is viewed as a core human value (for a discussion of definitions, see Yeo, p. 21–23). The notion of privacy includes the right to control the disclosure, dissemination and use of personal information about oneself. With respect to health information these rights are protected by rules of professional conduct, the common law, the Canadian Charter of Rights and Freedoms,⁵⁰ and numerous statutes, both federal and provincial, as well as international treaties, conventions, declaratory statements and ethical guidelines.⁵¹

Canadian courts have recognized that an individual's “right to security of the person” within the meaning of section 7 of the Canadian Charter of Rights and Freedoms encompasses both the physical and psychological integrity of the individual.⁵² It follows that section 7 includes the right to be free from psychological stress that would result from the unauthorized disclosure of one's personal health information.⁵³ Additionally, section 8 of the Charter, which deems that individuals have the right to be secure against unreasonable search or seizure, has been interpreted to provide protection of an individual's privacy of information. which in this context includes DNA, health and demographic information. This particular right is based on the integrity of the individual and not merely on proprietary interests.⁵⁴

Confidentiality

Patients and their families have a legitimate expectation that confidential health information, including genetic information, will not be disclosed to third parties without permission. This is a fundamental tenet of the fiduciary nature of the doctor–patient relationship.⁵⁵ This expectation is reflected in the duty imposed on health care professionals to respect the confidentiality of all information they obtain about their patients. The ethical duty that underlies the legal duty is evident in the Hippocratic Oath and in modern enunciations of it, including the Canadian Medical Association Code of Ethics.⁵⁶ Additionally, requirements regarding confidentiality have been placed in legislation governing health care facilities, health care sectors and health care professionals. There exists legislation in every province that imposes some obligation on health care providers to maintain patient information as confidential.

There is also a clear common law duty to keep health information confidential.⁵⁷ While there is limited jurisprudence in this area, there have been numerous judicial statements that have confirmed the existence of an equitable action for “breach of confidence.” As such, there seems little doubt that the handlers of health information can be found liable for the inappropriate use or disclosure of confidential information. For example, the 1990 Alberta Queen's Bench decision of Hay v. University of Alberta Hospital, described the duty of confidence as follows:

The physician–patient relationship is clothed with confidentiality, a right which may be waived by the patient. Confidentiality is an important attribute of the physician–patient relationship, essential in promoting open communication between physician and patient. The patient may expressly waive this right or, by his actions, be found to have impliedly waived it. Alternatively, an overriding public interest or a statutory direction may justify a physician disclosing information about the patient. In the absence of such circumstances, the right remains and a physician who divulges confidential information could face an action for breach of confidentiality, a possibility which obviously causes physicians some concern.⁵⁸

The Supreme Court of Canada, in the decision of McInerney v. MacDonald, held that certain duties arise from the special nature of the relationship of trust and confidence that exists between doctor and patient. Physicians must “act with utmost good faith and loyalty”⁵⁹ in their dealings with patients.⁶⁰ By extension of these principles, the researcher–participant relationship would likely be determined by Canadian courts to be fiduciary in nature.⁶¹

Exceptions to the Physician's Duty of Confidence

While physicians and other health care professionals owe a duty of confidence to their patients, there are exceptions, both at common law and in statute. For example, there are numerous legislative exceptions that allow confidential information to be used without the patient's consent.⁶² The most controversial exception is the common law “duty to warn.”⁶³ Pursuant to this exception, there may be some circumstances when a physician has a legal and ethical obligation to breach his/her duty of confidentiality in order to protect the health or safety of a third party. The Tarasoff v. Regents of the University of California case is the most commonly cited example of this duty.⁶⁴ While there are only a few Canadian decisions that explicitly refer to Tarasoff,⁶⁵ there is a growing body of case law that seems to support the notion that physicians may, in some circumstances, owe a duty to someone who is not a patient.⁶⁶ There is also precedent that implies a duty-to-warn exception to the duty of confidentiality.⁶⁷ More importantly, many of the emerging provincial health information acts codify a duty-to-warn exception.⁶⁸ The Canadian Medical Association recently modified its code of ethics to reflect that the principle of confidentiality is not absolute.⁶⁹

The duty to warn is relevant in the context of the collection and use of human biological samples. It has been suggested that there may exist circumstances when a physician has a legal obligation to warn a family member of a patient of a potential health risk revealed through genetic testing of the patient. Because a patient's genetic information may be relevant to a relative (e.g., for decisions about reproduction or treatment options), it has been argued that there may be a “duty to warn” a family member about a given genetic risk or condition.⁷⁰ The communication of information to family members at high risk for serious harm without the consent of the research participant should be contemplated only when all attempts to elicit voluntary cooperation and communication of the information by the tested individual to his or her relatives have failed.⁷¹ Despite this trend toward recognition of a duty to warn, it is still very unclear when it would apply. For example, there is no consensus on how severe the risk of harm to the third party must be in order to trigger the duty.

Privacy Legislation in Canada

In Canada, there are numerous statutes — both federal and provincial — that are relevant to health information. For example, Table 7 demonstrates a variety of key statutes that are relevant to the privacy and confidentiality of health information in Alberta. The complexity of the legislative framework is magnified when one considers that the situation is similar in most Canadian provinces.

Table 7 –
Examples of Alberta Statutes Relative to Privacy and Confidentiality of Health Information
Health Information	Health Information Act, Bill 40, 2nd Sess., 24th Leg., Alberta, 1999.
Freedom of information and protection of privacy	Freedom of Information and Protection of Privacy Act, S.A. 1994, c. F-18.5, s. 22.03.
Public health	Public Health Act, S.A. 1984, c. P-27.1.
Health administration	Health Care Insurance Act, R.S.A. 1980, c.A-24, s. 13. Health Care Insurance Regulation, AR 216/81, s. 23. Hospitals Act, R.S.A. 1980, c. H-11, s. 40.
Cancer	Cancer Programs Act, R.S.A. 1980, c. C-1, Part 1.1. Cancer Programs Regulation, AR 242/98

Freedom of information legislation applies to personal information in the public sector and now exists federally, provincially and in the territories. There is new federal privacy legislation that concerns the collection, use and disclosure of personal information in the private sector. Numerous provinces are currently in the process of drafting similar privacy legislation. The effect of “substantially similar” provincial legislation would be to pre-empt the operation of the federal statute in the provinces with such legislation. Numerous provinces now have specific legislation governing the privacy of health information.

Table 8 –
Relative Coverage of Federal and Provincial Privacy Statutes (or Bills) in Canada
Jurisdiction	Right of privacy	Criminal law	Tort	Clinical records	Registries statistics	Freedom of information, public	Protection of personal information, health	Protection of personal information, private
Canada	4	4			4	4		4
British Columbia			4	4	4	4		(4)
Alberta				4	4	4	4	(4)
Saskatchewan			4	4	4	4	(4)
Manitoba			4	4	4	4	4	(4)
Ontario				4	4	4	(4)	(4)
Quebec	4			4	4	4		4
Nova Scotia				4	4	4
New Brunswick				4	4	4
Prince Edward Island				4	4	4
Newfoundland and Labrador			4		4	4
Yukon					4	4
Northwest Territories					4	4
Nunavut					4	4

4 denotes legislation in force.
(4) denotes pending bill.

Source: Kosseim, slide 9.

Appendix C provides a province-by-province listing of statutes and bills.

Federal Personal Information Protection and Electronic Documents Act (PIPEDA)

The federal Personal Information Protection and Electronic Documents Act (PIPEDA)⁷² imposes mandatory standards for the collection, use and disclosure of personal information, including health information, in the private sector. The stated purpose of PIPEDA is:

to establish, in an era in which technology increasingly facilitates the circulation and exchange of information, rules to govern the collection, use and disclosure of personal information in a manner that recognizes the right of privacy of individuals with respect to their personal information and the need of organizations to collect, use or disclose personal information for purposes that a reasonable person would consider appropriate in the circumstances.⁷³

Schedule 1 of PIPEDA specifically incorporates the principles enunciated in the Canadian Standards Association Model Code for the Protection of Personal Information into the Act. In summary, these principles are summarized in Table 9:

Table 9 –
Fair Information Principles as Set out in the National Standard of Canada Titled “Model Code for the Protection of Personal Information,” CAN/CSA-Q830-96
Principle	Description
Accountability	An organization is responsible for personal information under its control and shall designate an individual or individuals who are accountable for the organization's compliance with the following principles.
Identifying purposes	The purposes for which personal information is collected shall be identified by the organization at or before the time the information is collected.
Consent	The knowledge and consent of the individual are required for the collection, use or disclosure of personal information, except where inappropriate.
Limiting collection	The collection of personal information shall be limited to what is necessary for the purposes identified by the organization. Information shall be collected by fair and lawful means.
Limiting use, disclosure and retention	Personal information shall not be used or disclosed for purposes other than those for which it was collected, except with the consent of the individual or as required by law. Personal information shall be retained only as long as necessary for the fulfilment of those purposes.
Accuracy	Personal information shall be as accurate, complete and up-to-date as is necessary for the purposes for which it is to be used.
Safeguards	Personal information shall be protected by security safeguards appropriate to the sensitivity of the information.
Openness	An organization shall make readily available to individuals specific information about its policies and practices relating to the management of personal information.
Individual access	Upon request, an individual shall be informed of the existence, use and disclosure of his or her personal information and shall be given access to that information. An individual shall be able to challenge the accuracy and completeness of the information and have it amended as appropriate.
Challenging compliance	An individual shall be able to address a challenge concerning compliance with the above principles to the designated individual or individuals accountable for the organization's compliance.

As of January 1, 2002, PIPEDA became applicable to personal health information but until January 1, 2004, this remained limited to personal health information in the federally regulated private sector and to cross-border disclosures of such information. After January 1, 2004, PIPEDA also applies to the health information in the private sector. Where a province enacts its own legislation covering the private sector and the provincial legislation is substantially similar to PIPEDA, the provincial law applies.

Specifically, PIPEDA contains provisions that contemplate the use and disclosure of personal information for research purposes.⁷⁴ Personal information may be used or disclosed for research without the subject's knowledge or consent for purposes that cannot be achieved without using or disclosing the information, where it is impracticable to obtain consent, and where the organization informs the Privacy Commissioner prior to the use or disclosure of information. The information must, however, be used in a way that maintains its confidentiality.

PIPEDA has been criticized for failing to recognize the nature of health information and the special aims of health care provision. It also fails to recognize the pre-existing legal and ethical obligations that physicians and researchers owe to patients and research subjects. Additionally, it has been suggested that the fair information principles underlying the Act do not necessarily accord with the norms of health care provision.

Provincial Legislation for the Protection of Personal Information in the Private Sector

As noted above, the federal PIPEDA applies to all personal health information collected, used or disclosed during the course of commercial activity as of January 1, 2004. If a province enacts its own legislation that is “substantially similar” to PIPEDA, the provincial legislation will apply within the province. Quebec has had legislation in place since 1993.⁷⁵ Alberta (Bill 44⁷⁶) and British Columbia (Bill 38⁷⁷) have drafted legislation that, if passed, will apply to private sector transactions.

Many questions remain about the interaction of the federal and provincial statutes with respect to biobanking. Which act will properly apply? Will the provincial statutes be deemed “substantially similar” to the federal legislation? The many privacy laws that exist, though conceptually similar, are not identical. The degree to which the laws will be harmonized is yet to be seen. At present, it appears that navigating the existing and developing legislative framework in the context of biobanking will be a difficult challenge. This is particularly true considering that “biobanking” in the context of developing a population genetics research resource is neither strictly public nor strictly private and it is not a typical commercial venture.

Provincial Privacy Legislation Concerning Health Information

A number of Canadian provinces including Alberta, Manitoba and Saskatchewan have enacted specific legislation concerning the privacy of health information. Such legislation aims to:

establish mechanisms to protect the privacy of individuals with respect to their health information and to protect the confidentiality of that information
enable health information to be shared and accessed
facilitate the provision of health services and management of the health system
prescribe rules for the collection, use and disclosure of health information
provide individuals with a right of access to health information about themselves
provide individuals with a right to request correction or amendment of health information about themselves
establish strong and effective remedies for contraventions of the statutes
provide for independent reviews of decisions made by custodians or trustees pursuant to the acts and the resolution of complaints.

In general, health information legislation accomplishes these objectives by:

placing clear obligations on the “custodians” of health information, with respect to “personally identifying” health information
setting rules governing the collection, use, storage, disclosure, retention, disposal and destruction of personal health information, including biologic samples (see, for example, Alberta Health Information Act s. 1(1)(i)(iii))
demanding that health information can be used and/or disclosed only for the purpose or purposes for which it was collected or for a consistent purpose
permitting personal health information to be used and/or disclosed for research purposes with or without the consent of the individual to whom the information pertains if certain criteria are met (see, for example, Alberta Health Information Act s. 48–56).

Careful analysis of the federal and provincial privacy statutes relative to biobanking is required. Biobanking is a complex subject matter that is not obviously and neatly either public or private. The federal jurisdiction over trade and commerce and the provincial jurisdiction over health further complicate the matter. The complexity of the legislative web may compel consideration of biobank-specific legislation that could address the complex privacy issues in a more direct and coherent way.

Table 10 summarizes the public opinion data relating to issues of privacy.

Table 10 –
Summary of Public Opinion Data Relating to Issues of Privacy
Public Concerns
Canada	Nearly 90% of Canadians regard genetic information as being different from other types of personal information and want to see stricter rules for governing access to such information (Einsiedel, p. 13, citing Pollara and Earnscliffe, 2001) Two-thirds of Canadians feel that genetic information is “most private and confidential” and they do not want others to have access without consent (Einseidel, p. 13, citing Canadian Medical Association, 2000) Concerns exist regarding donor anonymity, records being used for research purposes and the possibility of employers and insurance companies obtaining and misusing the information (Einseidel, p. 13, citing Canadian Medical Association, 2000). About 78% of Canadians polled agree that doctors should have access to genetic information for purposes of diagnosis and therapy; 60 % think that provincial health ministries should not have access to genetic information; 87% think that private insurance companies should not have access to genetic information; and 63% think that the police should have access to genetic information to solve crimes (Einseidel, p. 14, citing Einsiedel, forthcoming). About 7 in 10 Canadians think that legislation to protect the privacy of health information should apply to both public and private sectors (Einseidel, p. 16, citing Canadian Medical Association, 2000). Most people (76%) presume that genetic information produced in any test is preserved, though they tend to think more of the lab's premises than a data bank. Almost 60% think that is true of the actual sample of blood or saliva as well (Pollara and Earnscliffe, Genetic Privacy Issues, p. 10). Absent arguments about the benefits that might be derived from the use of personal genetic information, most Canadians default toward the strict protection of genetic privacy (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Privacy is not the only priority Canadians consider. They highly value health and medical uses of genetic information. This is particularly true with respect to the development of cures for genetically based diseases. Canadians are generally quite open to research uses of genetic information (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Canadians are divided about whether genetic information is fundamentally different from health information, but they do expect access to be more strictly regulated than other for medical information (Pollara and Earnscliffe, Genetic Privacy Issues, p. 9). Canadians express widely differing views in terms of comfort with different groups/individuals having access to genetic information. They express a high level of comfort with doctors and medical researchers having access and a low level of comfort with insurance companies, employers and governments including provincial health departments having access to this information (Pollara and Earnscliffe, Genetic Privacy Issues, p. 107).
United Kingdom	Concerns about misuse of genetic information by employers and insurers are adequately addressed if information is provided about why the information is useful, how it will be used and the safeguards that are in place to guard against unauthorized access (Einseidel, p. 13, citing Human Genetics Commission, 2002).
United States	As a result of increasing concern among its constituent publics, the U.S. Congress introduced a rule requiring researchers using tissue banks to obtain consent when using individually identifying patient information (Einseidel, p. 12, citing Uraneck, 2001). Some 85% of Americans surveyed in 1995 were “very concerned” or “somewhat concerned” that insurers and employers would gain access to and misuse genetic information (Einseidel, p. 15, citing Uraneck, 2001) Fewer than 1 in 5 Americans considered the use of medical records for medical research without permission to be very acceptable; fewer than 1 in 3 thought it unacceptable (Einseidel, p. 15, citing Uraneck, 2001).
Professional Concerns
	There is disagreement among professionals about the conditions for confidentiality and the viability of technical solutions to provide answers (Einseidel, p. 30).

Summary: Privacy and Confidentiality

Numerous factors make the issues surrounding privacy and confidentiality particularly challenging, including the rapid developments in information technology and genetics and the ongoing tension between the desire to do beneficial health research and the need to protect personal health information.

Privacy

At present, it appears that there exists no coherent legal framework within which to appropriately address health-related privacy issues that are relevant to biobanking.
It is essential to gain an understanding of the interaction between federal and provincial privacy statutes relative to biobanking. Jurisdictional issues between the federal power over trade and commerce and the provincial power over health must be reconciled.
The existing legislative framework is complex and may compel consideration of biobank-specific legislation that could address the complex privacy issues.
There is an need to develop encryption, anonymization and data sharing methods to ensure security of data according to identified needs.⁷⁸

Confidentiality

Physicians have a clear, common law duty, including a fiduciary duty, to keep patient information confidential (a duty that has been modified by privacy legislation).
There are a number of exceptions to the duty of confidentiality, such as those set out in health information legislation. The most controversial exception, however, is the “duty to warn” third parties. Though emerging case law and legislation lend support to the existence of the duty, its scope remains uncertain.

Top

Informed Consent and Communication of Research Results

Individual Consent to Research

In Canada, to be valid, consent to medical treatment must be specifically referable to the treatment to be given, and it must be given voluntarily by a patient who has capacity and is informed. If any one requirement fails to be met, the consent is void. The consent requirements in the context of clinical research are more onerous than for medical treatment. The Nuremberg Code and the Declaration of Helsinki and the Tri-Council Policy Statement (TCPS) require that participants in medical research provide voluntary informed consent prior to participating in medical research. Importantly, informed consent must be viewed as an ongoing process and participants must be given adequate opportunities to discuss and contemplate continuing participation.

Canadian courts have determined that research subjects are entitled to a “full and frank disclosure of all the facts, probabilities and opinions which a reasonable man might be expected to consider before giving his consent.”⁷⁹ This obligation requires that researchers must provide information about potential risks (regardless of how remote) as well as all material information about the research protocol. In the context of clinical genetics research, study participants must be apprised of the potential for commercialization of research findings, the mechanisms used to protect confidentiality of sensitive information, the potential impact of participation on one's insurability, their entitlement to withdraw from participation in the study at any time and how (or if) the study results will be made available to the participant or the participant's physician. Appendix D provides a list, extracted from the TCPS, of the types of information that should be conveyed to potential research subjects.

Retrospective Research Involving Previously Existing Collections

With respect to retrospective research on stored human tissues and associated data, health information legislation or other privacy laws typically provide an exception to the general rule that informed consent is required for research using personally identifiable health information or tissue. For example, Alberta's Health Information Act allows researchers to access identifiable health information, including tissue, without consent, under specific circumstances with research ethics board approval.⁸⁰ In reviewing the research proposal, the research ethics board must consider whether, among other things, the proposed research is of sufficient importance to outweigh the public interest in protecting privacy, and whether obtaining consent is unreasonable, impractical or not feasible.

Despite this legislative weakening of the informed consent requirement in the context of retrospective research, Canadian law and developing international norms strongly support the need for individual consent to prospectively collect and store DNA samples and personal information in a population genetics biobank.

Prospective Research

In Canada, strict application of existing law and policy in the context of biobanking would demand that consent be obtained at the time a sample is collected and again for each new use of an identifiable DNA sample or associated data in a biobank (Deschênes and Cardinal, p. 35, citing Caulfield and Outerbridge). This requirement is difficult to fulfil in the context of biobank research where potential future uses are not known. The specific degree of detail to fulfil informed consent requirements in the context of population genetic research remains speculative. The Human Genetics Commission has stated that:

[t]he difficulties involved in tracing and securing reconsent for different forms of medical research may make obtaining fresh consent impractical and would seriously limit the usefulness of large-scale population databases.⁸¹

Similarly, using only anonymous samples or utilizing a process to irreversibly anonymize samples would limit the usefulness of the samples and resulting data. The value of biobanks for future research is greatly enhanced if mechanisms are used that protect the identity of research participants while maintaining links to health information and other data that can updated over time (Deschênes and Cardinal, p. 28).

Commentators have questioned the appropriateness of the legal norms governing consent in this setting. Caulfield et al. cite cogent reasons why the traditional norms may properly be considered too onerous in the context of biobanks and population genetic research. ⁸² The reasons can be summarized as follows:

The full spectrum of biotech research is difficult, if not impossible to predict at the time consent is obtained for sample collection.
The collection of DNA samples (typically through venipuncture or buccal swab) involves little risk to the individual participant.
Biobank research is not likely to provide information that is of direct clinical relevance to individual participants.
The value of individual samples in a biobank is marginal; the value resides in the aggregate collection and the ability to analyze in a multitude of ways.
Repeat requests for individual consent from biobank participants is burdensome to researchers and to participants and may be a disincentive to participation.

Various policy options have been suggested that alter the informed consent requirement to a greater or lesser degree. Table 11 provides a comparison of models of consent, including fully informed consent, “authorization model,” blanket consent, presumed consent and waiver of consent.

Table 11 –
Comparison of Existing Consent Models
Consent Model	Features
Informed consent	Informed consent is required for the initial collection of the biological sample and for each subsequent new use in a research protocol. May be overly restrictive with respect to future research. Recontacting of patients/participants is onerous and may not be desirable in certain circumstances (e.g., when patient/research participant is deceased).
Authorization model (See Deschênes and Cardinal, pp. 16–17; Yeo, p. 49)	Informed consent is required for the initial collection of the biological sample. Subsequent research is authorized (or not) by the research participant at the time of the initial sample collection. Individuals can specify specific permitted or excluded uses of their biological material and associated data and can specify the degree of subsequent decision-making authority they want to maintain. There is a possibility that individuals can opt for a general “blanket consent” but is never presumed by researchers. This model strikes a reasonable balance that is supportive of individual autonomy and of genetic research and is supported by the TCPS (Article 8.6). This model accords with public opinion.
Blanket consent (Deschênes and Cardinal, p. 14)	One-time consent, wherein a research participant consents to “research in general.” Too general to be afforded much legal weight, a person cannot be held to have consented to that to which he has given no consideration. Not supported by public opinion: the public has the expectation that rules governing access to genetic information should be strengthened. Some argue that the principle of autonomy supports the right of research participants to give blanket consent to research; others argue that blanket consent is no consent at all.
Presumed consent	Because a patient or research participant donated a biologic sample for research and because only a relatively small proportion of individuals would want to reconsent, consent to future uses can be presumed. Presumed consent is problematic because of the degree to which it undermines respect for the individual participant and the right of the individual to make informed decisions about matters involving him or her. Not supported by public opinion. May be a justifiable presumption to permit access to and use of existing collections of human biologic materials that would otherwise be of little value.
Waiver	Requirement for obtaining informed consent from individuals to whom individually identifying data or samples refer can be waived by a research ethics board if (among other things) the research poses no more than minimal risk to the subjects (see TCPS, s 2.1(c); and see Alberta Health Information Act, ss. 48–55). Not supported by public opinion. Some feel a waiver is justifiable to permit access to and use of existing collections of human biologic materials that would otherwise be of little value.

With respect to the various options described in Table 11, the authorization model appears to be the best option for large-scale population genetic research. Implementation of an authorization model of consent would, however, require changes in the current regulatory and legislative environment.

Research Involving Children

The proposed Canadian birth cohort study envisions the enrolment of infants in a longitudinal population genetic research protocol. In Quebec, pursuant to the Civil Code,⁸³ an incompetent minor may participate in research with parental consent, provided that the minor does not object and there is no serious risk. In that province, population genetic research involving children would require approval by a research ethics board constituted or designated by the Minister of Health and Social Services. The proposed experiment “must have the potential to produce a benefit to the health of the person concerned or, if it is conducted on a group, to the health of the persons in the same age group or having the same illness or handicap as the persons submitted to the experiment.” In other provinces, the legality of research involving children is unclear.⁸⁴ Further consideration of this issue is required.

The TCPS anticipates that parents, as authorized representatives of children, may consent to research on behalf of the minor if the research does not expose the minor to more than minimal risks without the potential for direct benefits. ⁸⁵ Infants and children may be considered to participate in research when the research question can be addressed using individuals within the identified group(s) only. In the case of population genetic research involving children, the argument has been made that a lifelong birth cohort is necessary to study the interaction between human genes and environmental factors. If academic debate confirms the scientific merit of this approach and if the law permits research on children in this context, ethics would require that the parent(s) or guardian(s) consent as the “authorized representative” of the minor.

Population Consent

Although the notion of population consent is contentious and difficult, if not impossible to implement, it is important to inform and consult the population and to consider public opinion (Deschênes and Cardinal, p. 8). Canadians ought to be consulted as to whether and in what circumstances they would consider participating in a national biobank initiative. Appropriate forums for discussion must be established and supported by the planners and funders of large-scale population genetic initiatives (see Section 4.1).

Public Opinion Data

The most thorough research on the issue of consent has been performed in the United Kingdom. Laws governing consent in Canada are more onerous than those in the United Kingdom and health law jurisprudence in this country places greater emphasis on the principle of autonomy.⁸⁶ Though these data provide a useful starting point, similar studies must be performed in Canada (Einseidel, p. 44).

From the data on public opinion presented by Einsiedel, it is clear that the publics feel strongly about the value of informed consent for population genetic research. Unanimously, all groups studied (general public, patient groups, religious leaders, special interest groups and professionals) held the opinion that informed consent is crucial (Einseidel, pp. 11, 27). There is particular concern is that that third parties (including employers and insurance companies, law enforcement agencies) may obtain access to biological samples and/or associated data.

Strategies that have been suggested for dealing with informed consent in the context of population genetic research, including waiver of consent and blanket consent, appear to be inconsistent with public opinion. Given the need to foster and maintain public research in the area of genetic research and the growing concerns about privacy and confidentiality, it is necessary to glean insight into the attitudes of Canadian publics toward biobanks.

Table 12 –
Summary of Public Opinion Data Relating to Issues of Consent
Public Concerns
Canada	Fewer than 50% of Canadians think that health information could be released to governments and researchers without consent, provided that identifying data have been removed (Einseidel, p. 12, citing Canadian Medical Association 2000). In focus groups, most people after discussion are comfortable with researchers accessing biobanks for a variety of studies, including those that were not contemplated at the time of consultation (Pollara and Earnscliffe, Genetic Privacy Issues). The consistent provisos are that people provide informed consent (though only at first instance, not at each different research use) and that their identity be masked or stripped away (although large numbers of people would accept researchers having access to their identity if it furthered the cause of medical research and was not used inappropriately) (Pollara and Earnscliffe, Genetic Privacy Issues).
United Kingdom	About 9 in 10 people surveyed think that consent should be required prior to blood or tissue being used for genetic testing (Einseidel, p. 12, citing Human Genetics Commission, 2001). Almost 9 in 10 feel that fresh consent should be obtained before research is permitted on existing samples (Einseidel, p. 12, citing Human Genetics Commission, 2001). Some members of the public see the fact that no feedback will be given as problematic and something that could pose a barrier to participation (Einseidel, p. 13, citing People, Science and Policy, 2002). Donors should have the right to feedback on anything that emerged from their own samples (Einseidel, p. 13, citing Porter, 2000). Some members of the public understand and accept that feedback would not be provided to individuals. Some think this would be problematic and could pose a barrier to participation (Einseidel, p. 13, citing People, Science and Policy, 2002). There is interest in receiving general information on discoveries or developments made from the research (Einseidel, p. 13, citing Porter, 2000).
United States	More than 8 in 10 Americans consider the use of patient records for medical research without prior permission to be unacceptable (Einseidel, p. 11, citing Institute for Health Care Research and Policy, 1999). While comfort levels increase if the information is not linked to individual patients, 1in 3 consider use of such information “not at all acceptable” without patient consent (Einseidel, p. 11, citing Institute for Health Care Research and Policy, 1999). Most people would not object to research being performed on samples to which demographic information or medical history was linked (Einseidel, p. 13, citing NBAC, 2000). Individuals who are to be notified in the event that medically helpful information is discovered about them tend not to object to the idea of research in which demographic data are linked to stored tissue samples; they are only slightly more concerned about links to medical histories (Einseidel, p. 13, citing NBAC, 2000).
Concerns of Professionals
United Kingdom	Health care professionals are generally adamant that consent be obtained at point of collection and for subsequent uses (Einseidel, p. 27, citing Hapgood, 2001).
Canada	Researchers admit that information about ownership, control, storage conditions and sharing of samples between researchers is often not shared with tissue donors (56% did not specify ownership information; only 15% specified storage duration; about 60% admit to sharing samples with other researchers) (Einseidel, p. 27, citing Verhoef et al., 1995).
United States	Two-thirds of allied health professionals in the U.S. support autonomy in situations where subjects choose not to learn the results of genetic testing; 29% would put limits on autonomy when tested individuals refuse to tell at-risk relatives of the results (Lapham et al., 1997). Some 95% of those polled think that permission should be obtained before the release of medical records to a national database; 93% believe that researchers should obtain permission to study an individual's genetic information (Gallup, 2000).
Iceland	The Icelandic Medical Association warned the Icelandic government that the interests of patients were jeopardized by unacceptable arrangements concerning informed consent (Einseidel, p. 34, citing Icelandic Medical Association, 2000).
United Kingdom	Health care professionals feel that the concepts of risk and commercial gain are inadequately explained in patient information sheets and frequently treat DNA collection from blood or tissue as incidental to the research (Einseidel, p. 27, citing Rigby, 2001).

Summary: Informed Consent

It appears that individual informed consent has become the de facto norm for prospective population genetic research.
Obtaining informed consent is problematic in the context of large-scale population genetic biobanks to the extent that the future research uses of the tissue and/or data to be derived therefrom are unknown.
Informed consent must be viewed as an ongoing process and it must be reaffirmed if significant changes are made to the protocol or banking conditions.
Implementation of large-scale population genetic research requires a reassessment of the current normative framework governing informed consent.
Legislating an “authorization model” of informed consent is worthy of consideration in the specific context of prospective population genetic research.
Participants in population genetic research must be able to withdraw their consent to participate. Procedures must be in place to facilitate withdrawal of all data that are personally identifying or that are capable of being personally identifying.
If Canada wishes to embark on a large-scale population genetic initiative involving minors, the legality of consent by authorized representatives in this context must be established.
Details of feedback must be determined at the outset of population genetic research and communicated to research participants.
Out of respect for the subject population, research results must be publicly shared; results should be shared in a timely and diligent manner.
The use of previously existing collections of human biological materials for genetic research without individual consent is possible in limited circumstances.
Individual participants must be aware of the risk (if any) that law enforcement agencies (or others) may obtain access to data and samples before giving consent and before samples are taken.

Top

Commercialization

Despite calls for public consultation and deliberation over whether or not Canada should embark on a large-scale population genetic biobank initiative, the presumption is that the current proposal of the Canadian Institutes of Health or a similar initiative will inevitably proceed. Given this reality, we are obliged to consider how to best to manage real and perceived conflicts of interest and how the effects of commercialization and the rapid dissemination of clinically useful genetic innovations can be facilitated in a manner that best accords with the public interest and results in the greatest possible benefit to society.

Increasingly the distinction between the private and public sectors is blurred in the area of biomedical research. All of the authors of the previously commissioned papers highlight the issue of commercialization as being potentially problematic in the context of population genetic research. Specific concerns include the following:

commodification of the human body
ownership of human biological materials and associated data
academic secrecy
skewing of the research agenda from basic research to the development of commercializable end products
premature implementation of new technologies in the marketplace (i.e., before the clinical, ethical, legal and social issues have been appropriately considered)
potential adverse effects of patents (and other forms of intellectual property) on patient access to new technologies.

Private industry will play a critical role in the translation of the information derived from the Human Genome Project into tangible products and procedures that will benefit individuals and society. The private sector funds a great deal of research and relieves academic researchers of mundane and repetitive research. It performs the tightly controlled independent studies that are required for drug and medical device approval processes. Although private industry contributes more to genetic research in terms of funding than do governments, it is recognized that government research frequently gives industry a jump-start on the path to commercialization. The role of public sector funding in the commercial process must not be marginalized.

The public sector's increasing dependence on private enterprise to fund and participate in basic, translational and clinical research provides new opportunities for conflicts of interest to arise (Deschênes and Cardinal, p. 26; Yeo, p. 18; Einseidel, p.17). There are concerns, for example, that private industry will place inappropriate limitations on the academic freedom of publicly funded clinical researchers, that researchers will become less collaborative and will be less inclined to share data with colleagues and the wider research community, that the focus of biomedical research will be skewed away from basic research to what is likely to be commercializable, and that the growing dependence of academia on industrial partners is likely to have an adverse impact on public trust. The related and ongoing debate over the ethical appropriateness of gene patenting and stem cell patenting has not abated. There is a real risk that overemphasis on commercial efforts will undermine science, scientists, the fruits of research and the medical profession.

Public opinion data suggest that, although the public generally supports biotechnology and the development of the biotech sector, there are serious reservations about certain aspects of commercialization and ownership of human genetic material (Einseidel, p. 17). For example, among Canadians there is a deep resistance to the idea of biobanks selling genetic data to others doing research, even with consent (Pollara and Earnscliffe, Genetic Privacy Issues, 2003). It is thought that this implies more a judgment against the role of profit in association with health care than a considered decision about the particular circumstances. Public opinion data from Canada and abroad suggests that the public generally lacks trust in corporate responsibility in the biotechnology field and that it trusts researchers less if they are collaborating with industry. The issue of trust is particularly relevant and must be addressed if a large-scale population genetic initiative is to be commenced.

Table 13 –
Key Issues That Have Arisen over Commercial Involvement in Biobank Projects
Iceland	Serious concerns have been raised over the grant of an exclusive licence to deCODE Genetics to exploit the Health Sector Database for profit. This situation highlights the clear need to clarify, at the outset, the purpose and principles that underlie any large-scale population genetic initiative. Public consultation is essential in defining the purpose and principles if the project is to inspire trust in the public.
UK Biobank	Consultation in the United Kingdom revealed public concerns over any commercial involvement in Biobank. People generally feel that databases should not be owned by commercial interests and that products developed through the initiative should be publicly owned (Einseidel, pp. 15–16). This situation highlights the need to develop liberal access mechanisms for researchers, sharing of research results and transparent benefit-sharing mechanisms to ensure direct and obvious public benefit.
DNA Sciences Inc.	The “Gene Trust” was established by DNA Sciences through the solicitation of volunteers over the Internet. A sample repository of more than 10 000 samples and associated data was established. It was recently sold to Genaissance Pharmaceuticals in a deal whereby DNA Sciences sold substantially all of its assets to Genaissance to avoid bankruptcy. This situation highlights a critical need to examine mechanisms in corporate law that could be used to protect donor participants (e.g., legal trust).
Tonga	The Tongans effectively opposed the creation of a biobank and patenting of their genetic resources by Autogen because they felt that the benefits promised (including free drugs and royalties) were insufficient in light of what Autogen stood to gain (Deschênes and Cardinal, p. 24). This situation highlights the need to include the public in negotiations over benefit sharing to make sure that they feel a fair deal has been reached. It also reflects a need to consider tying royalties to future commercial success so that a population would gain proportionately and appropriately from a future blockbuster product.

Deschênes and Cardinal (p. 26–27) aptly point out that the creation and exploitation of population genetic biobanks in Canada requires careful consideration of the following questions:

Can the commercialization of products and services developed from population genetic research be simultaneously promoted and aligned with the best interests of society?
Who can or should own or control a population genetic biobank?
How should the interests of the Canadian population be represented in any commercial agreements that flow from biobanking?
Is there an emerging legal obligation that would require Canada to incorporate benefit sharing into population genetic initiatives?
How might benefit-sharing arrangements be implemented in the Canadian context?

Where populations or communities contribute to research projects and where profits ultimately accrue to a commercial entity (or entities), it is appropriate to consider whether and how profits and other benefits should be shared with the participant community. Benefit-sharing arrangements, if carefully considered, provide a key mechanism for establishing and maintaining public trust in the context of population genetic initiatives. It is very clearly ethically mandated and there is evidence of an emerging legal requirement in international law.⁸⁷ The HUGO Ethics Committee Statement on Benefit Sharing discloses potential mechanisms that may be used to effect benefit sharing between sponsor companies and communities that participate in population genetic research.

Benefit sharing should not be viewed as contrary to the existing intellectual property regime nor as a mechanism to curb commercial involvement in genetic research. Rather, benefit sharing should be considered as a mechanism (or rather a spectrum of mechanisms) to balance the commercial interests with those of research participants in a way that is both respectful and reflective of the relative contributions to the research endeavour.

Table 14 provides an overview of types of monetary and non-monetary benefits that may be included in benefit-sharing agreements.

Table 14 –
Monetary and Non-monetary Benefits That May Be Incorporated into Benefit-sharing Agreements
Monetary Benefits	Non-monetary benefits
Access fees Royalties Licence fees Joint ownership of intellectual property rights	Sharing of information Research collaboration, joint ventures Technology transfer agreements Human resources development Provision of health care Development of information infrastructures Social recognition

Sharing arrangements will depend heavily on the parties involved and the social, cultural and political particularities of the situation. Governmental, non-governmental or academic institutions and indigenous and local communities may be included in sharing arrangements. The situation in both Iceland and Tonga highlight the reality that benefit-sharing arrangements should be carefully constructed to adequately address concerns of the subject population. Failure to do so may result in total failure of the project. Mechanisms to review the contractual terms, including monetary payments, can be addressed at the outset. Appropriate dispute resolution mechanisms should be carefully considered.

Table 15 –
Summary of Public Opinion Data Relating to Issues of Commercialization
Public Concerns
United Kingdom	There is a general sense that medical databases should not be owned by commercial interests (Einseidel, p. 15, citing Human Genetics Commission, 2000). About 3 in 4 people feel that new products developed using genetic information should be publicly owned (Einseidel, p. 16, citing Human Genetics Commission, 2000).
Canada	Some 7 in 10 are of the opinion that legislation designed to protect privacy of health information should be applicable to both public and private sectors (Einseidel, p. 16, citing Canadian Medical Association, 2000). Canadians have shown high support for the mapping of the human genome and increasing support for the idea of patenting (Einseidel, p. 17, citing Pollara and Earnscliffe, 1999). Half of respondents are not comfortable with the idea of patents on higher life forms (Einseidel, p. 18, citing Pollara and Earnscliffe, 1999). Principles of equality and access to new products should guide the commercial process (Einseidel, p. 18, citing Pollara and Earnscliffe, 1999). Half of respondents think there is joint ownership of the genetic information between themselves and the organization that administered the test (Pollara and Earnscliffe, Genetic Privacy Issues). Some 43% of respondents think the biological samples are their property alone (Pollara and Earnscliffe, Genetic Privacy Issues). There is a deep resistance to the idea of biobanks “selling” genetic data to others doing research, even with consent. This appears to be more a view of the role of profit in health care than it is a considered decision about the particular circumstances. For instance, few have factored in the cost of gathering and storing the data when they consider the issues (Pollara and Earnscliffe, Genetic Privacy Issues).
Japan	Support for patenting drops as the focus shifts from new plant and animal varieties to patenting existing plant, animal and human genes (Einseidel, p. 17, citing Macer, 1992).
Sweden	There are ethical concerns associated with the commercialization of genetic information (Einseidel, p. 18, citing Hoyer, 2002). While the public is comfortable with the commercialization of “information technology,” they are less comfortable with the idea of commercializing “gene technology” (Einseidel, p. 18, citing Hoyer, 2002).
Tonga	Autogen's proposal to establish a health database in Tonga using the population's genepool sparked outrage among human rights and church organizations (Einseidel, p. 32, citing Burton 2002).
Professional Concerns
United Kingdom	Issues around the increasing numbers of links being established between public and private sectors around genetic databases have been flagged (Einseidel, p. 36, citing Human Genetics Commission, 2000). A commercial market for human DNA and genetic data is well under way (Einseidel, p. 36, citing Martin, 2000).

Summary: Commercialization

Commercialization Generally

The objective of population genetic research is to develop new drugs and treatments for human diseases. The private sector will inevitably be involved in the process; the accrual of intellectual property rights is inevitable.
As part of the informed consent process, research participants must be informed about the potential future commercialization of their biological materials and of the results of research.
It is imperative that population genetic research and the associated commercialization process proceed in a manner that is both cognizant and protective of the physician–patient and researcher–participant relationships.
The potential exists that for-profit or not-for-profit corporations that exist separately from publicly funded related research institutions may hold biological samples and associated data. It is important, therefore, that procedures concerning bankruptcy and voluntary winding up of these entities be addressed to ensure that biological samples and sensitive medical history do not become “assets” that may potentially be distributed among creditors or shareholders.

Access to Biobank Resources

Access to biobank resources by researchers (both public and private) must depend on appropriate scientific and ethical review of proposed research.
Researchers from Canada and abroad should have liberal access to biobank data that has been accumulated through publicly supported initiatives.
Publicly supported population genetic biobanks should be mandated to enable as much research as possible, including research into common and rare disorders.
Population genetic biobanks should aim to facilitate research that will ultimately benefit both the subject population and the global community.

Benefit Sharing

The interests of the participating population and the general population must be considered separate and apart from commercial interests. To this end the interests of the population should be represented in commercial agreements.
Benefit-sharing arrangements should be prospectively incorporated into the overall design of biobank initiatives. The public should be consulted on the issue of benefit sharing.
Benefit sharing should be considered as a mechanism (or rather a spectrum of mechanisms) to balance the commercial interests with those of research participants in a way that is both respectful and reflective of the relative contributions to the research endeavour.

Top

Governance

Governance refers to “those processes by which human organizations, whether private, public or civic, steer themselves.”⁸⁸ The governance issues that arise in the context of biobanking are complex and broader than those inherent in “health research involving human subjects.” This is because biobanking involves the interaction of private entities in a realm that is traditionally considered “public.” Issues of corporate governance and corporate ethics are therefore highly relevant. In the context of biobanking, governance issues arise in and between organizations, including public and private institutions, sponsor companies, regulatory agencies, research ethics boards, researchers, research participants and the general public. The governance of biobanks is important for many reasons, not least of which because it plays a key role in ensuring accountability and in building and maintaining public trust.

Michael Yeo argues convincingly that large-scale biobanks are more akin to business organizations than to research entities as traditionally conceived and that the existing legal and ethical framework governing research is inadequate. The norms of research and research ethics have been developed narrowly and do not adequately consider the privacy and consent challenges that arise in the context of biobanking. Numerous commentators have called for stronger privacy protection and changes to the requirements for informed consent for future research on samples and associated data contained in biobanks (Yeo, p. 16). Additionally, biobanking, even if construed strictly as a research tool, differs markedly from other types of research involving human subjects. Modifications to the current legal and ethical regime or the development of a separate regulatory regime are inevitably required. This argument is bolstered when the commercial exploitation of biobanks is brought into the fray. The pressing question is whether the currently available governance tools — the law, policy and ethical norms — can adequately address the concerns arising from biobanking: Are these tools sufficiently adaptable to the biobanking context, or do further tools — legislation, regulations, policy statements specific to biobanks — need to be developed?

Public opinion data suggest that the public understands the importance of ethical governance systems in genetic research, an area that is viewed as being central to the future of medical research. This is demonstrated by the public's recognition of the importance of a collaborative effort involving government and the scientific community in developing an appropriate governance regime (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Generally speaking, individuals do not want to choose between genetic research and protection of privacy. Rather surprisingly, if forced to choose, slightly more people emphasize research than privacy protection (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). It appears that the more people learn about genetic research and biobanking, the more likely they will conclude that the benefits of the research outweigh the risks involved. This does not mean that there is an unconditional acceptance of the free use of genetic information. Rather, the public wants to see a demonstrable link between the substance of the initiatives and the benefits to be derived. Without this link, the default position is that of strict privacy protection. If, however, the public is shown that there is impetus to improve governance and to address concerns about potential abuses or misuses of genetic information, public trust and confidence is enhanced. These data point strongly to the importance of public consultation and education on issues surrounding large-scale population genetic research.

There exists an opportunity for Canadian biobank planners to learn from the challenges faced during the development of other large-scale biobank initiatives. The experience of the Medical Research Council (MRC) in the United Kingdom is particularly instructive and should be closely examined so Canadian planners avoid similar criticisms. If Canada does embark on a large-scale population genetic database involving children, the planners must, on an inclusive and ongoing basis, engage scientists and other stakeholders in the process. In the first instance, it is necessary to address anticipated challenges to the scientific methodology and anticipate that criticism will be directed at the nature of the development process itself. It is advisable to consider whether a peer review process might be effectively employed to ensure objectivity and independence in the project development process.

Regardless of the degree of reform that is deemed necessary, large-scale biobanking clearly requires the development of an accountable regulatory framework that incorporates the legal and ethical norms governing human subject research and the evolving ethical norms of corporate governance.

Table 16 depicts, schematically representation, an overview of the complex governance environment in which biobanks operate in Canada.

Table 16 –
Overview of the Governance Environment in Which Biobanks Operate in Canada
Professional Responsibility
Professional and Scientific Norms Universal Declaration of Human Rights (UN) Declaration of Helsinki (WMA)
Science	Medicine
Various professional codes promoting: honesty, integrity, protection of the public interest, academic freedom, data sharing, peer review (etc.). (Canadian Information Processing Society) (Canadian Council of Professional Engineers) (Chemical Institute of Canada)	Hippocratic Oath (Provincial Colleges of Physicians and Surgeons) (Canadian Medical Association) (National Specialist Societies)

Law		Policy	Ethics
Charters of Rights and Freedoms Federal: privacy acts (public sector, private sector) CHRA Bill of Rights Common law: privacy/ confidentiality consent fiduciary law	Provincial/ territorial statutes: privacy (public sector, private sector, health) hospitals human tissue cancer registries public health statistics provincial charters and human rights acts	Federal: Tri-Council Policy Statement funding strategies (CIHR guidelines*) Provincial/territorial: provincial policy statements university and hospital policy statements	Canada: Tri-Council Policy Statement Statement of Principles on the Ethical Conduct of Human Genetic Research Involving Human Populations
International Law: Convention on Human Rights and Biomedicine Convention on Biological Diversity (by analogy)			International: International Ethical Guidelines for Biomedical Research Involving Human Subjects (CIOMS) Universal Declaration on the Human Genome (UNESCO) HUGO Statement on the Ethical Conduct of Genetic Research HUGO Statement on Benefit-sharing Statement on Databases (WMA) (Emerging norms of corporate ethics)
Biobank-specific Policies And Procedures
(Biobank-specific guidelines for research ethics boards*)

Table 17 –
Summary of Public Opinion Data Relevant to Governance Issues
Public Concerns
United Kingdom	Participants stress the importance of regulations governing collection, storage, use and disposal of samples, and preferred oversight of these processes by an independent body (Einseidel, p.8 citing Portal et al, 2000).
Canada	Canadians default toward the strict protection of genetic privacy but they afford high positive value to health and medical uses of their information (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Canadians are quite open to research uses of their genetic information (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). When it comes to regulatory and ethical governance systems, more Canadians (56%) believe that the medical and research community should play the main role in determining priorities and procedures than believe the government should (41%) (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Canadians believe that government should set legislation, but think the research and medical community are more expert and closer to the situation on the ground. Canadians want a strongly collaborative effort involving government and the scientific/medical communities (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Canadians support for a regime that balances the strict protection of personal genetic information with facilitating access to such information to gain important corollary benefits (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Public support for a governance regime requires consistent linkage between the substance of initiatives and the benefits to be derived, the default position (i.e., strict protection of privacy) comes into play (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Knowledge and discussion about genetic research and genetic privacy increases the conviction that the benefits of facilitating access to genetic information outweigh the drawbacks (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). The more people know about genetic research and biobanks, the more likely they are to consider that the benefits outweigh the risks; those who are likely to hear about the issues early and engage are more enthusiastic about the benefits of genetic research (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). Focus group research suggests that, once people are given a sense that those responsible for governing these issues are thinking about them and working to improve their governance, concerns about potential abuse or misuse abate and interest in gaining the benefits increases (Pollara and Earnscliffe, Genetic Privacy Issues, p. 14). An overwhelming number of Canadians (96%) see genetic research as very (67%) or somewhat (29%) central to the future of medical research (Pollara and Earnscliffe, Genetic Privacy Issues, p. 93). Most Canadians (73%) exhibit a willingness to allow personal genetic information to be used in medical research (the percentage rises if one's identity is stripped from the database) (Pollara and Earnscliffe, Genetic Privacy Issues, p. 95). Concerns exist regarding donor anonymity, records being used for research purposes and the possibility of employers and insurance companies obtaining and misusing the information (Einseidel, p. 13, citing Canadian Medical Association, 2000).

Summary: Governance

“Biobanking” is an amorphous endeavour that cuts across numerous scientific and medical disciplines. It will require innovative governance strategies and further refinement of the governance environment.
Conflicts and inconsistencies that exist in the governance framework must be identified and appropriately addressed.
The management structure of biobanks must be accountable and the commercial aspects of biobanking must be transparent not to undermine public support for such endeavours.
Professional responsibility is reflected in the ethical and professional norms of the scientific disciplines and the norms of medical practice. Biobanking will require a novel multidisciplinary conception of professional responsibility.
Law (provincial, national and international), policy statements (federal, provincial/territorial and institutional) and numerous relevant ethical statements are relevant in the governance of biobanks and ought to be carefully considered in the development of biobank-specific policies and procedures.
Biobank-specific policies and procedures must clearly define, among other things (Yeo, pp. 19–20):
- the precise contents of the biobank, including specimens (e.g., tissue, blood, cells or the DNA samples derived therefrom), DNA sequence data, demographic information, health information and other linked information
- specimen and data collection procedures, including the terms of consent granted by participants
- the extent to which individuals can be identified from the biobank data
- the rules and procedures by which access to biobank contents is granted to researchers
- the safeguards in place to protect the interests of those whose information is held (including security, oversight and accountability provisions)
- the organizational structure and governing rules of the biobank.
Research ethics boards urgently require guidance on the legal and ethical issues associated with biobanking.
Research ethics board approval must be obtained for all proposed research protocols prior to recruitment of participants in population genetic research:
- they must be independent and multidisciplinary and must include members of the participation population
- they should evaluate and monitor the constitution of the biobank, review all research projects and review requests for access
- to perform their function, they should be aware of all contractual terms between researchers and the biobank.
Issues of capacity, competence and independence of research ethics boards must be addressed.
There is a need to create an independent organization that would be responsible for project oversight and surveillance.
There is a need to establish long-term monitoring and periodic auditing of biobanks.

Top

Summary of the Main Issues

There has been a paradigm shift in genetic research from linkage analysis to large-scale population genetic research. This leads to increasing societal importance in ensuring that the ethical, legal and social issues are addressed as the research develops. There is real cause for optimism that society will reap profound benefits from innovations stemming from this second phase of the Human Genome Project. It is expected that population genetic research will enable researchers to gain a better understanding of the gene–environment interactions implicated in complex human diseases, which in turn may enable novel drug development strategies as well as the development of novel diagnostic and predictive tests. There is a need for rigorous scientific scrutiny and for careful consideration of the relevant ethical, legal and social issues. This summary will review the main issues identified in this synthesis paper and to prioritize them, where it is possible to do so.

In developing a strategy that will best meet the needs of the Canadian public, the research community, private industry and policy makers can draw from a wealth of experience developed in other nations; Canada must proceed cautiously and with an eye to the particularities of Canadian society and the regulatory regime in which biobanking is and will be situated.

At each step, it is important for policy makers to recognize that population genetic research is made possible through the participation of individual volunteers who collectively comprise a “population.” The contribution of this population to the research is essential and, arguably, the population must be recognized as a partner in the research endeavour. It is from this presumption that the following conclusions flow.

Public Education and Consultation

In the first instance, a transparent public education and consultation strategy must be developed to determine whether Canada should promote, as a societal objective, the development of large-scale biobank initiatives. Policy makers should not exclude the possibility that Canada should not pursue large-scale population genetic research initiatives. If, however, Canada opts to pursue population genetic research after carefully reviewing all the issues, ongoing consultative strategies must be developed to ensure the continuing relevance and acceptance of such initiatives. Consultative strategies must be transparent and the results must be incorporated into the relevant projects where it is reasonable to do so. To this end, criticism that has been levied against UK Biobank is instructive. Consultation must not been seen as a “bolt-on activity to secure support for a “politically driven project.”⁸⁹ Developing an appropriate education and consultation strategy will be challenging. Careful thought must be given to the development of an appropriate bundle of strategies that will yield the best possible understanding of public and stakeholder sentiment in the Canadian context. Appropriate and sustained levels of funding must be allocated to ongoing education and consultation.

Privacy and Confidentiality

Numerous factors make the issues surrounding privacy and confidentiality particularly challenging, including rapid developments in information technology, genetic research and bioinformatics as well as the ongoing tension between the desire to do beneficial health research and the need to protect personal health information. The issue of privacy is particularly complex. Specifically, there is no coherent legal framework to appropriately address the health-related privacy issues that are relevant in the context of biobanking. A very high priority must be to tackle these issues and to gain an understanding of the interactions between existing and proposed federal and provincial privacy statutes (and other potentially relevant statutes) that are implicated in biobanking. There is a possibility that careful analysis of the legal framework may compel consideration of biobank specific legislation that could more reasonably address specific privacy issues.

At the safeguarding level, it is necessary to consider whether appropriate mechanisms exist for encryption, anonymization and sharing of data. It is also worth considering, at a very early stage of project planning, optimal strategies for data collection and storage to ensure that accord with emerging international standards.

Informed Consent

In Canada, individual informed consent appears to be the de facto norm for prospective population genetic research. It is recognized that the inability of researchers and biobank planners to predict all possible future uses of human biologic materials and associated data poses a challenge to the process of informed consent. The implementation of large-scale population genetic research requires a reassessment of the current normative framework governing informed consent.

It must also be noted that population genetic research involving minor subjects is ethically and legally fraught with uncertainty. If Canada wishes to pursue the currently proposed Lifelong Health Initiative or other similar initiatives, it must address this issue.

Commercialization

A major objective of population genetic research is the development of new drugs and treatments for human disease. It is inevitable that private industry will be involved in the process and that it will seek to accumulate intellectual property rights over innovations. The challenge is to effectively reconcile the needs of industry with the needs of the broader research community and with the populations that enable such research. Numerous concerns arise in the context of the commercialization of genetic research, not least of which is the potential adverse effect on public trust. Though the public is generally supportive of genetic research, there is a real risk that overemphasis of the commercial aspect will result in a backlash against population genetic research and the commercial products developed as a result of that research.

In developing a consultative strategy, Canada is well advised to consider the development of innovative public–private collaborations that involve a “partnership” with the subject populations of genetic research.

Benefit sharing is one such collaborative mechanism. It should not be viewed as contrary to the existing intellectual property regime nor as a mechanism to curb commercial involvement in genetic research. Rather, benefit sharing should be considered as a mechanism (or rather a spectrum of mechanisms) to balance the commercial interests with those of research participants in a way that is both respectful and reflective of the relative contributions to the research endeavour.

Governance

Governance issues for biobanks arise between organizations and institutions (both public and private), sponsor companies, regulatory agencies, research ethics boards, researchers, research participants and the general public. The governance of biobanks is critically important because of the role it plays in ensuring accountability and in building and maintaining public trust. The pressing question is whether the currently available governance tools — the legal, policy and ethical norms — can adequately address the concerns arising in the context of biobanks. Are the existing tools sufficiently adaptable, or are other tools needed, including legislation, regulations, and policy statements that are specific to biobanks?

When considering the appropriateness of the current governance framework, public concerns about commercial involvement and the potential misuse of genetic information cannot be underestimated. With the increasing trend to the collection and use of genetic information, the more likely it will be that instances of misuse will occur. To assure the integrity of population genetic research, reasonable steps must be taken to understand the current governance framework and to consider ways to strengthen the protections offered to research participants and their families.

Though there is time to prospectively plan for large-scale population genetic initiatives, the reality is that research ethics boards urgently require guidance on the legal and ethical issues associated with biobanking on a smaller scale. Institutional and regional banks are being established at an ever-increasing rate as the potential value of genetic information is being realized. The Tri-Council Policy Statement provides insufficient guidance to research ethics boards that are asked to review biobank projects.

Recruitment Strategies

Methods of recruiting participants into population genetic research must be supported on scientific, legal and ethical grounds. In addition, mechanisms for participant recruitment must be developed that are specifically referable to the Canadian health care system and to patient behaviour within that system. Recruitment strategies ought to focus on the fair distribution of the benefits and burdens of population genetic research to the entire population. This is difficult in Canada because of the vast geographical size of the nation, the diversity of the populations within Canada and the relatively small population.

Top

Overview of Large-scale Population Genetic Research Initiatives

Characteristic	Icelandic Health Sector Database	UK Biobank	Estonian Gene Bank Project
Data collected	personal health information genotype data genealogical data	personal health information genotype data physical examination	personal health information genotype data genealogical data
Follow-up		Initial follow-up period is 10 years
Study size	270 000, including children and the deceased	500,000 adults aged 45–60 years	1 million
Interested parties	Icelandic government and deCODE Genetics	Wellcome Trust/Medical Research Council	Eesti Geenivaramu and eGeen Inc.
Consultation	extensive post facto debate (local and international)	in progress, though limited to date	extensive up-front consultation
Population support	initial support, but confidence eroded by opposition pressure orchestrated by Icelandic scientists and physicians	Biobank project was modified in light of recommendations from members of public and health care professionals oversight body arose as a result of such consultation	high level of population awareness and support for the project in August 2002, 76% of population knew of project and only 2% were against it
Enabling legislation	act on a health sector database act on biobanks	none	human genes research act personal data protection act databases act
Licensing strategy	exclusive licence granted to deCODE Genetics	publicly owned; non-exclusive licences to be granted to researchers (public or private)	eGeen is the exclusive licensee that will finance the project for the benefit of both parties
Recruitment	physicians provide encrypted information to deCODE Genetics about potential participants; preliminary genealogy analysis is performed data are decrypted and returned to physicians who then contact appropriate patients, explain the research and obtain written consent	physicians in participating medical centres contact their patients, explain the research and obtain written consent from individuals who want to participate	physicians contact their patients, explain the research and obtain written consent from individuals who agree to participate
Access	Ministry of Health commercial subscription special access for Icelandic researchers?	individuals have a legal right to access their personal data. any use of material from the study by commercial organizations is subject to approval by the Scientific Management Committee and the overseeing body and must conform to relevant ethical and legal requirements	only the gene donor or that person's physician can access personalized information about the gene donor. state agencies
Consent	informed consent is obtained to access an individual's health record and to collect DNA samples act on biobanks requires that biological samples be obtained for clearly defined purposes but gives board of the biobank the power to authorize use for purposes other than those for which samples were originally collected	participants must “provide written consent to enable follow-up through NHS registers, their general practice and other medical records, for permission to use their data and blood samples for various analyses and specified and unspecified biochemical and genetic tests and for permission to recontact”	written informed consent is given by participants to have tissue sample, health information and genealogy entered in the Gene Bank in a coded form specified uses include genetic research, public health research and statistical purposes that are in conformity with the law minor can be a gene donor if guardian is informed. consent may be withdrawn at any point up until sample is coded
Right of withdrawal	donor may request destruction of his or her biological sample at any time data obtained and included in analysis prior to destruction of sample will not be destroyed	not stated in draft protocol dated February 14, 2002	participants can request destruction of all data that can be decoded
Feedback of results	research findings are published on the deCODE Genetics Web site	participants receive feedback on measures taken during physical examination information about progress of research will be available to all participants through newsletters, Web-based media and peer-reviewed publications
Oversight and surveillance	Data Protection Commission, National Bioethics Committee dedicated bodies: monitoring committee; interdisciplinary ethics committee Monitoring Committee is statutorily mandated to ensure that the HSD is operated in accordance with the law	independent oversight body, including lay membership, to oversee the workings of UK Biobank to conduct research activities and perform audits to ensure that data collected are used responsibly and within terms of consent obtained from participants	Estonian Genome Project Foundation is chief processor chief processor must enter contract with authorized processors (eGeen) or gene researchers by which terms are set for storage, security measures, procedures for copying, distributing or destroying samples separate supervisory board and scientific advisory board
Ethics approval	all research protocols must be submitted to the National Bioethics Committee; it must monitor progress of the research and may stop research that goes beyond bounds of the protocol or is otherwise unethical Interdisciplinary Ethics Committee has the power to monitor ongoing research and to stop research that is not conducted in an appropriate manner	not referenced in draft protocol dated February 14, 2002	science committee to advise on matters of scientific validity of research carried out with gene bank consultative ethics committee oversees processing procedures of gene bank
Benefit sharing	deCODE Genetics to provide Iceland a share of annual profits obtained from running database; profits to be used to promote health services, research and development Icelandic medical records facilities to computerized at deCODE's expense. Icelandic government has full access to HSD pursuant to sub-license with Hoffman-LaRoche, Icelanders will receive free drugs that are developed using HSD for patent term	return of research result to biobank in exchange for use of samples	Estonian Genome Project Foundation holds a stake in eGeen Inc.
Current status	ongoing	interim advisory group established; meets regularly and advises MRC on approaches to the project pilot studies to be conducted prior to commencement of main study	pilot study completed in October 2002 main project commenced in spring 2003

Top

Excerpts from the Government Response to the Work of the Medical Research Council Report by the House of Commons Science and Technology Select Committee

Recommendation 30: We appreciate the difficulties in projecting the long-term running costs of Biobank at this stage but we are reassured to see that the issue is being actively considered now (para. 54).

and

Recommendation 31: The Biobank is an exciting project and we commend the MRC's efforts to ensure that the United Kingdom is taking the lead in harvesting the fruits of the human genome. We are concerned, however, that funds were allocated to the project before the scientific questions over its value and methodology were fully addressed (Para 57). [Governance]
- Government response: The Government endorses the Committee's commendation of the MRC in ensuring that the United Kingdom continues to take a lead in harvesting the fruits of the human genome research. Unanimity is rare among the scientific community for a major project. One of the reasons that the project has taken so long to bring to fruition (the first joint meeting held by the MRC and Wellcome Trust for scientists wishing to assist in development of the concept was in 1998) is that the funders have engaged scientists and other stakeholders on an inclusive basis from every stage. Now that the “hub” and “spokes” responsible for collection and analysis of samples and data have been selected, work will continue on finalization of a business plan and protocol and these will be widely disseminated.
Recommendation 32: It is not clear to us that Biobank was peer-reviewed and funded on the same basis as any other grant proposal. Our impression is that a scientific case for Biobank has been put together by the funders to support a politically driven project (para. 58). [Governance]

and

Recommendation 33: We recommend that the MRC publish the comments of Biobank's peer reviewers anonymously to build confidence that the project is fully justified and supported by the scientific community (para. 59). [Governance]
- Government response: The idea of the Biobank was first raised by scientists and the project was peer reviewed. However it would not have been appropriate to review the project “like any other grant proposal.” It is designed as a national resource for future research projects which cannot yet be specified in detail (though there will of course be peer review of these). The joint peer review procedure used by the funders (DH, Wellcome Trust and the MRC) involved predominantly international experts as it was agreed that this was the best way of ensuring objectivity and independence and avoiding conflicts of interest.
  
  The Government accepts the integrity of the peer review operated by the funders in relation to the UK Biobank project. Reviewers' comments cannot be published as they were sought in confidence by funders in the normal way. Peer reviewers' comments are currently exempt from the Freedom of Information Act disclosure requirements which take effect in 2005. Any changes to the current practice on peer review would need to be discussed, agreed and implemented consistently by all the research councils and other stakeholders.
Recommendation 34: We believe that fully informed consent is an essential requirement for participation in Biobank. The MRC may have good grounds for not adopting the Human Genetics Commission's guidelines on consent for Biobank but it should state clearly what its position is and, if it disagrees with them, explain why (para. 60). [Informed consent]
- Government response: The government agrees that fully informed consent is paramount. Planning for BioBank has always been on the basis that fully informed consent is an essential requirement. The discussions on consent in the Human Genetics Commission report Inside Information are not guidelines but rather general points to consider. These are consistent with the principles for consent which the funders are developing for BioBank, and with the guidelines developed by an expert MRV Working Group on DNA collections, which was published following wide consultation in 2000. In practice therefore, the Human Genetics Commission's points will indeed be followed.
Recommendation 35: We fear that the project's long-term viability could be threatened if Biobank's funders fail to adopt a more open approach and engage not only the project's participants and stakeholders but the wider public (para. 63). [Consultation]

and

Recommendation 36: It is our impression that the MRC's consultation for Biobank has been a bolt-on activity to secure widespread support for the project rather than a genuine attempt to build a consensus on the project's aims and methods. In a project of such sensitivity and importance, consultation must be at the heart of the process not at the periphery (para. 65). [Consultation]
- Government response: The Government recognizes that consultation forms a vital part of the development of a project such as this. MRC and the other funders are committed to continued wide consultation as the project develops. The UK BioBank project is predicated on the willingness of volunteers to participate — broad public acceptance of the aims of the project is therefore an essential part of its implementation.
  
  Consultation with a wide range of stakeholders, including the public, has been a fully integrated part of the project planning over the last three years and this is one of the reasons that the project has taken so long to bring to fruition. Initiatives include:
  - informal consultation workshops with health professionals (GPs, nurses, etc.) across the country in 2001 and 2003
  - independent qualitative and quantitative research by (different) consultants in 2000 and 2002, reports of which have been published; the 2002 study was followed up, partly at the suggestion of some focus group participants, early in 2003 with further work with those social groups that had been underrepresented
  - an ethics consultation workshop in 2002, involving ethicists and special interest groups; the report has been published and has informed development of the current draft ethics and governance framework on which there will be further consultation in 2003
  - workshops for the wider research community wishing to contribute to the development of the project (in 2001 and 2002)
  - presence at science festivals (e.g., BA, Cheltenham)
  - meetings with Human Genetics Commission including a public forum in 2002
  - a parliamentary briefing in 2003.
  Most of these consultations have indicated broad public support for the Biobank concept. Comments on the ethics and governance structure and on the scientific protocol are being taken into account in developing the project further.
  
  The Biobank's communication and consultation strategy over the next few months will focus in a number of different areas. External consultants have been commissioned by the funders to explore attitudes to the proposed ethics and governance framework for the project. In parallel, the funders will start to develop, with the newly appointed CEO for Biobank, a longer-term communications and consultation strategy for the project. This will include communications and consultation work to be done locally by the spokes with potential volunteers and health professionals, to underpin final development and piloting of the research protocol (a copy of the current draft has been available on the Biobank Web site since the summer of 2002). The CEO plans to appoint a Communications Director for the project later this year. Funders are also in the process of setting up a Public Panel. This is a group of approximately 50 people who have participated in previous consultation work commissioned by the funders and who have expressed an interest in some continued involvement.
Recommendation 37: The MRC appears to be taking a sensible attitude toward industrial involvement in Biobank. It must be made clear that all results will be in the public domain but we recognize that if new therapies are to arise from Biobank, industry's involvement is inevitable and necessary (para. 66). [Commercialization]
- Government response: The Government welcomes this recommendation.
Recommendation 38: We agree with the Human Genetics Commission that Biobank's participants should be represented on the independent oversight body or on participants' panels at each regional centre. It is vital that participants play an active role in the management of the project (para. 69). [Governance]
- Government response: The Government and the MRC agree that volunteer participation in oversight of the project would be helpful nationally and/or locally.
  
  Details of the members of the oversight group will be made public. This will mean that although the identity of the volunteers and all data samples would be confidential, volunteers who are on the oversight group may be identifiable as volunteers. This would need to be adequately explained and consent obtained.
Recommendation 39: The Human Genetics Commission has recommended that the Government fund research into the encryption techniques to ensure data security. We support this view (para. 71). [Privacy and Governance]
- Government response: Work is already under way within the NHS' national IT programme leading to the determination and establishment of reliable and robust standards that will ensure the confidentiality and security needs of NHS patient data are satisfied. These new arrangements will include appropriate means to anonymise, pseudoanonymise and encrypt patient data according to identified and agreed needs and that are suitable for patient data stored in databases or that is communicated electronically between information partners. The standards for achieving this security and confidentiality will be piloted and validated within arrangements for the NHS' national IT programme and will be available to the MRC for adoption as required.
  
  DH is working closely with government security authorities including ‘The Central Sponsor for Information Assurance' to ensure appropriateness of NHS methods and to achieve alignment with government advice where appropriate.
Recommendation 40: It is important that participants in Biobank are aware of the risk that police could obtain access to their data and samples before giving consent and before samples are taken. The funders should monitor to what extent this issue acts as a disincentive to participation (para. 72). [Privacy, Consent and Recruitment]
- Government response: The Government agrees that participants are made aware of this issue. The position of the funders has been that police could not search the database but that they could not refuse specific access in the unlikely event of a court order. When the issue of police access was explored during consultation, people seemed accepting of this approach.
Recommendation 41: The MRC has a distinguished history and can claim credit for the high status of United Kingdom biomedical research. We commend it for valuable work it undertakes to maintain that reputation. Nevertheless, there is significant disquiet about the policies and performance of the MRC from individual researchers and organizations. We realize that we were unlikely to receive submissions from people with no grievances but we have concluded that those who have submitted evidence have legitimate concerns. We have found evidence of poor financial management and poor planning, with too many funds committed over long periods leading to large numbers of top-quality grant proposals being turned down. The MRC has introduced misguided strategies for its research support that have discriminated against young researchers and some disciplines. It has been guilty of inconsistent and inadequate communications which have hampered our ability to assess the MRC's performance and misled its research community. Combined, these have harmed the reputation of the organization and caused great resentment among and inconvenience to the research community it is meant to be supporting (para. 74).
- Government response: The Government welcomes the Committee's attempt, in this conclusion to balance the MRC's continuing track record against the complaints the Committee has received.
  
  The MRC has an excellent track record and has shown in its annual reports the MRC meets its mission as set out in their Royal Charter.
  
  While we agree that some areas of financial management and planning could be improved, we believe that as a whole the MRC is able to plan and control its expenditure, their audited accounts have been approved by the NAO.
  
  The Government does not agree that the MRC's research strategies are misguided. The MRC's long term strategies are developed by the MRC council, which has representatives from the scientific and medical communities, in consultation with a range of organizations including the MRC research boards and Government departments.
  
  The Government has acknowledged throughout this response the need to pay greater attention to communication with the research community, and to evaluation of research policy and strategy.
Source: United Kingdom, Department of Trade and Industry, “Government Response to ‘The Work of the Medical Research Council' Report by the House of Commons Science and Technology Select Committee (HC 132),” Cm 5834, June 2003, pp. 15–19.

Top

Summary of Canadian Privacy Legislation

Jurisdiction	Legislation (Bill) Covers:	Citation and Status of Bills as of July 31, 2003
Federal	public sector	Privacy Act, R.S.C. 1985, c. P-21.
	private sector	Personal Information Protection and Electronic Documents Act (PIPEDA), S.C. 2000, c.5. Not applicable to private sector holdings or health information until January 2004
British Columbia	public	Freedom of Information and Protection of Privacy Act, R.S.B.C. 1996, c. 165
	private (bill)	Personal Information Protection Act – Bill 38 introduced in legislature on April 30, 2003 received second reading on May 1, 2003 if passed, will come into force on January 1, 2004
	tissue	Human Tissue Gift Act, R.S.B.C. 1996, c. 211
Alberta	public	Freedom of Information and Protection of Privacy Act, R.S.A. 2000, c. F-25
	private (bill)	Personal Information Protection Act – Bill 44 introduced in legislature on May 14, 2003 if passed, will come into force on January 1, 2004
	health	Health Information Act, R.S.A. 2000, c. H-5
	tissue	Human Tissue Gift Act, R.S.A. 2000, c. H-15
Saskatchewan	public	The Freedom of Information and Protection of Privacy Act, S.S. 1990-91, c. F-22.01
	health	The Health Information Protection Act, S.S. 1999, c. H-0.021 (Bill 29) received Royal Assent on May 6, 1999 not yet proclaimed into force
	tissue	The Human Tissue Gift Act, R.S.A. 1978, c. H-15
Manitoba	public	Freedom of Information and Protection of Privacy Act, C.C.S.M., c. F175
	health	Personal Health Information Act, C.C.S.M., c. P33.5
	tissue	Human Tissue Act, C.C.S.M. c. H180
Ontario	public	Freedom of Information and Protection of Privacy Act, R.S.O 1990, c. F.31
	tissue	Trillium Gift of Life Network Act, R.S.O. 1990, c. H.20
Quebec	public	An Act respecting access to documents held by public bodies and the protection of personal information, R.S.Q., c. A-2.1
	private	An Act respecting the protection of personal information in the private sector, R.S.Q., c. P-39.1
	tissue	An Act respecting medical laboratories, organ, tissue, gamete and embryo conservation, ambulance services and the disposal of human bodies, R.S.Q. L- 0.2
	tort	Civil Code of Quebec, S.Q. 1991, c. 64
Nova Scotia	public	Freedom of Information and Protection of Privacy Act, S.N.S. 1993, c. 5
	tissue	Human Tissue Gift Act, R.S.N.S. 1989, c. 215.
New Brunswick	public	Protection of Personal Information Act, S.N.B. 1998, c. P-19.1
	tissue	Human Tissue Act, R.S.N.B. 1973, c. H-12
Prince Edward Island	public	Freedom of Information and Protection of Privacy Act, S.P.E.I. 2002, c. F-15.01
	tissue	Human Tissue Donation Act, S.P.E.I. c. H-12.1
Newfoundland and Labrador	public	Access to Information and Protection of Privacy Act, S.N.L. 2002, c. A-1.1 received Royal Assent on March 14, 2002 not yet proclaimed into force
	tissue	Human Tissue Act, R.S.N.L. 1999, c. H-15
Yukon	public	Access to Information and Protection of Privacy Act, S.Y. 1995, c. 1
	tissue	Human Tissue Gift Act, R.S.Y. 1986, c. 89 (search for Yukon statutes from this site)
Northwest Territories	public	Access to Information and Protection of Privacy Act, S.N.W.T. 1994, c. 20
	tissue	Human Tissue Act, R.S.N.W.T. 1988, c. H-6 online: Canadian Legal Information Institute (search for NWT statutes from this site)
Nunavut	public	Access to Information and Protection of Privacy Act (Nunavut), S.N.W.T. 1994, c. 20 as duplicated for Nunavut by s. 29 of the Nunavut Act
	tissue	Human Tissue Act, R.S.N.W.T. 1988, c. H-6 as duplicated for Nunavut by s. 29 of the Nunavut Act

Top

Informed Consent: Information Relevant to Individual Participants in Population Genetic Research

Articles 2.4 and 10.2 of the Tri-Council Policy Statement (TCPS) on advise that research participants should be provided with the following information about the research protocol(s) in which they are asked to participate:

Article 24:
- information that the individual is being invited to participate in a research project;
- a comprehensible statement of the research purpose, the identity of the researcher, the expected duration and nature of participation, and a description of research procedures;
- a comprehensible description of reasonably foreseeable harms and benefits that may arise from participation, as well as the likely consequences of non-participation, particularly in research related to treatment, or where invasive methodologies are involved, or where there is a potential for physical or psychological harm;
- an assurance that prospective subjects are free not to participate, have the right to withdraw at any time without prejudice to pre-existing entitlements, and will be given continual and meaningful opportunities for deciding whether or not to continue to participate; and
- the possibility of commercialization of research findings, and the presence of any apparent or actual or potential conflict of interest on the part of researchers, their institutions or sponsors.
Commentary

The commentary in the TCPS relating to Article 2.4 contains a table listing “additional information that may be required for some projects.” The following information is directly relevant to biobank projects:
- an assurance that new information will be provided to the subjects in a timely manner whenever such information is relevant to a subject's decision to continue or withdraw from participation;
- information on the appropriate resources outside the research team to contact regarding possible ethical issues in the research;
- an indication as to who will have access to information collected on the identity of subjects, descriptions of how confidentiality will be protected, and anticipated uses of data;
- the ways in which the research results will be published, and how the subjects will be informed of the results of the research.
Article 10.2:
- the type and amount of tissue to be taken, as well as the location where the tissue is to be taken;
- the manner in which tissue will be taken, the safety and invasiveness of acquisition, and the duration and conditions of preservation;
- the potential uses for the tissue, including any commercial uses;
- the safeguards to protect the individual's privacy and confidentiality;
- identifying information attached to the specific tissue, and its potential traceability; and
- how the use of the tissue could affect privacy.

Top

An Overview of International Statements Relating to Privacy and Genetic Information

United Nations, Universal Declaration of Human Rights, 1948
Art. 12	No one shall be subjected to arbitrary interference with his privacy, family, home or correspondence, nor to attacks upon his honour and reputation. Everyone has the right to the protection of the law against such interference or attacks.
WMA, Declaration of Helsinki, 1964
Art. 2	It is the duty of the physician in medical research to protect the life, health, privacy and dignity of the human subject.
Art. 21	Every precaution should be taken to respect the privacy of the [research] subject, the confidentiality of the patient's information and to minimize the impact of the study on the subject's physical and mental integrity and on the personality of the subject.
HUGO Statement on the Principled Conduct of Genetic Research, 1996
	The HUGO–Ethical, Legal and Social Issues Committee recommends “recognition of privacy and protection against unauthorized access be ensured by the confidentiality of the genetic information. Coding of such information, procedures for controlled access, and policies for the transfer and conservation of samples and information should be developed and put into place before sampling. Special consideration should be given to the actual or potential interests of family members.”
Council of Europe, Convention on Human Rights and Biomedicine, 1997
Art. 10(1)	Everyone has the right to respect for private life in relation to information about his or her health.
Art. 10(2)	Everyone is entitled to know any information collected about his or her health. However, the wishes of individuals not to be so informed shall be observed.
UNESCO, Universal Declaration on the Human Genome, 1997
Art. 5(c)	The right of each individual to decide whether or not to be informed of the results of genetic examination and the resulting consequences should be respected.
Art. 7	Genetic data associated with an identifiable person and stored or processed for the purposes of research or any other purpose must be held confidential in the conditions set by law.
CIOMS, International Ethical Guidelines for Biomedical Research Involving Human Subjects, 2002
Guideline 18	The investigator must establish secure safeguards of the confidentiality of subjects' research data. Subjects should be told the limits, legal or other, to the investigator's ability to safeguard confidentiality and the possible breaches of confidentiality.
World Medical Association, Declaration on Ethical Considerations Regarding Health Databases, 2002
s. 1	The right to privacy entitles people to exercise control over the use and disclosure of information about them as individuals. The privacy of a patient's personal health information is secured by the physician's duty of confidentiality.
RMGA, Statement of Principles on the Ethical Conduct of Human Genetic Research Involving Human Populations, 2003
Art. 4	Mutual confidence between the researcher and the population is essential to reciprocity. To respect this confidence, the researchers should ensure the security and the confidentiality of the population data.

Top

¹ Yeo revised his work after the completion of this paper and it is now titled Biobank Research: The Conflict Between Privacy and Access Made Explicit
² The final versions of these four papers are available from the CBAC Web site.
³ United Kingdom, House of Commons Science and Technology Committee, “ The Work of the Medical Research Council: Third Report of Session 2002-03”.
⁴ United Kingdom, Department of Trade and Industry, “Government Response to ‘The Work of the Medical Research Council' Report by the House of Commons Science and Technology Select Committee (HC 132),” Cm 5834, June 2003.
⁵ See DNA Sciences, “ Genaissance Pharmaceuticals Enters into Agreement to Acquire Assets of DNA Sciences,” News Release, April 1, 2003; DNA Sciences, “ Genaissance Pharmaceuticals' Acquisition of Substantially All of the Assets of DNA Sciences Is Approved,” News Release, May 12, 2003.
⁶ Pollara and Earnscliffe Research, Public Opinion Research into Biotechnology Issues in the United States and Canada (Ottawa: Biotechnology Assistant Deputy Minister Coordinating Committee, 8th Wave, March 2003).
⁷ Pollara and Earnscliffe Research and Communications, Public Opinion Research into Genetic Privacy Issues (Ottawa: Biotechnology Assistant Deputy Minister Coordinating Committee, March 2003).
⁸ See, for example, Association of American Medical Colleges, “Policy Statement on Health Data Security, Patient Privacy, and the Use of Archival Patient Materials in Research” (1999); W. Grizzle et al., “Recommended Policies for Uses of Human Tissue in Research, Education and Quality Control” (1999), 123 Arch. Path. Lab. Med. 296; Medical Research Council, Human Tissue and Biological Samples for Use in Research (London: MRC, 1999); Working Party of the Royal College of Pathologists and the Institute of Biomedical Science, The Retention and Storage of Pathological Records and Archives, 2nd ed. (London: RCPATH,1999); Working Party of the Royal College of Pathologists and the Institute of Biomedical Science, Consensus Statement of Recommended Policies for Uses of Human Tissue in Research, Education and Quality Control (London: RCPATH,1999); World Health Organization, Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services (1999), WHO/HGN/GL/ETH/98.1; Human Genome Organization, “Statement on DNA Sampling: Control and Access” (1998), online: http://www.gene.ucl.ac.uk.hugo/sampling.html; Canadian Association of Pathologists, “Policy Statement and Guidelines for the Ethical Use of Human Tissue in Research” (1998), CAP Newsletter X; American Society of Human Genetics, “Statement on Informed Consent for Genetic Research” (1996), 59 Am. J. Hum. Genet. 471; Clayton et al., “Informed Consent for Genetic Research on Stored Tissue Samples” (1995), 274 JAMA 1786; American College of Medical Geneticists, “Statement on Storage and use of Genetic Materials” (1995), 57 Am. J. Hum. Genet. 1499; American Society of Human Genetics, Ad Hoc Committee on DNA Technology, “DNA Banking and DNA Analysis: Points to Consider” (1988), 42 Am. J. Hum. Genet. 781.
⁹ Laura M. Beskow et al., “Informed Consent for Population-Based Research Involving Genetics” (2001), 286 JAMA 2315; C. Weijer, “Benefit Sharing and Other Protections for Communities in Genetic Research” (2000), 58 Clin. Genet. 367; C. Weijer, G. Goldsand, E. J. Emanuel, “Protecting Communities in Research: Current Guidelines and Limits of Extrapolation” (1999), 23 Nat Genet 275; M. Deschênes, G. Cardinal, B. M. Knoppers et al., “Human Genetics Research DNA Banking and Consent: A Question of ‘Form'?” (2001), 59 Clin. Genet. 221.
¹⁰ Charlotte H. Harrison, “Neither Moore nor the Market: Alternative Models for Compensating Contributors of Human Tissue” (2002), Am. J. L. and Med. 77; E. Richard Gold, Body Parts: Property Rights and the Ownership of Human Biological Materials (Washington: Georgetown University Press, 1996); Moe Litman and Gerald Robertson, “The Common Law Status of Genetic Material,” in edited by Bartha Maria Knoppers (Toronto: Emond Montgomery Publications, 1996).
¹¹ See Human Genetics Commission, Inside Information: Balancing Interests in the Use of Personal Genetic Data (London: Human Genetics Commission, May 2002); John A. Robertson, “Privacy Issues in Second Stage Genomics” (1999), 40 Jurimetrics 59; Lawrence O. Gostin and James G. Hodge, “Genetic Privacy and the Law: An End to Genetic Exceptionalism” (1999), 40 Jurimetrics 21; George J. Annas, “Privacy Rules for DNA Databanks: Protecting Coded ‘Future Diaries'” (1993), 270 JAMA 2346.
¹² Henry T. Greely, “The Control of Genetic Research: Involving the ‘Groups Between'” (1997), 33 Hous. L. Rev. 1397; Eric T. Juengst, “Group Identity and Human Diversity: Keeping Biology Straight from Culture” (1998), 63 Am. J. Hum. Genet. 673; H. Markel, “The Stigma of Disease: Implications of Genetic Screening” (1992), 93 Am. J. Med. 209.
¹³ D. C. Wertz and J. C. Fletcher, “Ethical and Social Issues in Prenatal Sex Selection: A Survey of Geneticists in 37 Nations” (1998), 46 Soc. Sci. Med. 255; Anonymous, “Western Eyes on China's Eugenics Law” (1995), 346 Lancet 131; D. C. Wertz, “Did Eugenics Ever Die?” (2002), 3 Nat. Rev. Genet. 408.
¹⁴ Tom Spears, “Gene Study to Follow 30,000 Babies for Years,” The Ottawa Citizen (February 7, 2003).
¹⁵ William W. Lowrance, “The Promise of Human Genetic Databases: High Ethical as well as Scientific Standards are Needed” (2001), 322 BMJ 1009; D. Blumenthal, “Ethics Issues in Academic–Industry Relationships” (1996), 71 Acad. Med. 1291.
¹⁶ Wolfgang Edelstein, “The Responsible Practice of Science: Remarks About the Cross Pressures of Scientific Progress and the Ethics of Research,” December 1998.
¹⁷ Supra, note 1 (Committee Report, Recommendation 31).
¹⁸ Ibid.
¹⁹ Purposes for which stored human biologic materials can be used include, but are not restricted to, the following: clinical use, development of research tools (e.g., cell lines, cloned genes, gene markers, purified proteins or isolated DNA) development of diagnostic or therapeutic commercial products quality control in health care delivery, and forensic identification.
²⁰ Timothy Caulfield, Ross E. G. Upshur and Abdallah Daar, “DNA Databanks and Consent: A Suggested Policy Option Involving an Authorization Model” (2003), 4 BMC Medical Ethics, online: www.biomedcentral.com/1472-6939/4/1/; see also Henry T. Greely, “Breaking the Stalemate: A Prospective Regulatory Framework for Unforeseen Research Uses of Human Tissue Samples and Health Information” (1999), 34 Wake Forest L. Rev. 737.
²¹ For a recent comparison of several population genebanks, see, Melissa A. Austin, Sarah Harding Courtney McElroy, “Genebanks: A Comparison of Eight Proposed International Genetic Databases” (2003), 6 Community Genetics 37.
²² Medical Research Council, Natural Sciences and Engineering Research Council of Canada and the Social Sciences and Humanities Research Council of Canada, Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (Ottawa: Public Works and Government Services, 1998).
²³ HUGO Ethics Committee. “HUGO Statement on Benefit-Sharing” (2000), 6 Genome Digest 7-9.
²⁴ Supra, note 1 (Committee Report).
²⁵ Ibid. para 58.
²⁶ Ibid. para 57.
²⁷ Ibid. para 65.
²⁸ Supra, note 2 (Government Response).
²⁹ Eliot Marshall, “Company Plans to Bank Human DNA Profiles” (2001), 291 Science 575. This article focuses on the business strategy of First Genetic Trust Inc. It sees itself as “an intermediary between patients and researchers.” Individuals permit the company to store their genetic information in a confidential database for use in clinical research; visit their corporate Web site at: www.firstgenetic.net/. Another company, Ardais Inc. has a similar business strategy; visit their corporate Web site.
³⁰ Mary R. Anderlik, “Commercial Biobanks and Genetic Research: Banking Without Checks?” presentation delivered at the 3rd International DNA Sampling Conference, September 5–8, 2002, Montreal, Quebec.
³¹ Eric M. Meslin, “Raising the Bar in Research Ethics: Traditional Obligations are Not Enough” (2002), 112 Postgraduate Medicine 5.
³² Ibid. See also “Balancing Privacy and Biotechnology,” Business Week, editorial (15 April 2002).
³³ Dana Hawkins, “Keeping Secrets,” U.S. News and World Report (12 February 2002). See also Michael J. Trebilcock and Edward M. Iacobucci, “Privatization and Accountability” (2003) Harvard L. Rev. 1422. The authors note that people too often incorrectly conclude that flaws in the private market imply the need to maintain public sector influence. They propose that, in discussing the merits of public and private action, the analysis must be relative. They also suggest that private market shortcomings “pale in comparison to the flaws associated with public provision or public oversight of private actors.”
³⁴ Supra, note 3 (DNA Sciences) online: DNA Sciences. DNA Sciences Inc., was incorporated in 1998. Its corporate office is located in Fremont, California.
³⁵ Ibid., online: DNA Sciences.
³⁶ Ibid., online: DNA Sciences.
³⁷ Ibid., online: DNA Sciences.
³⁸ Ibid., “The Gene Trust Bill of Rights,” online: DNA Sciences.
³⁹ Ibid.
⁴⁰ Ibid., “DNA Sciences Privacy Policy,” Version: 4, Updated: 11-5-02, online: DNA Sciences.
⁴¹ Personal communication, Melodie Henderson, Vice President, Intellectual Capital and Licensing, Genaissance Pharmaceuticals, Inc.
⁴² Supra, note 3. See, DNA Sciences, “ Genaissance Pharmaceuticals Enters into Agreement to Acquire Assets of DNA Sciences,” News Release, April 1, 2003; DNA Sciences, Genaissance Pharmaceuticals' Acquisition of Substantially All of the Assets of DNA Sciences is Approved, May 12, 2003.
⁴³ Supra, note 39.
⁴⁴ Supra, note 9. See also Human Genetics Commission, “Public Attitudes to Human Genetic Information: People's Panel Quantitative Study” (2001); Human Genetics Commission, “Report to the Human Genetics Commission on Public Attitudes to the Uses of Human Genetic Information” (2000; People Science and Policy Ltd., “UK Biobank: A Question of Trust, A Consultation Exploring and Addressing Questions of Public Trust” (2002).
⁴⁵ Supra, note 1.
⁴⁶ Quebec, Commission de l'ethique de la Science et de la Technologie, “The Ethical Issues of Genetic Databases: Towards Democratic and Responsible Regulation,” 2003.
⁴⁷ Supra, note 20.
⁴⁸ S. D. Warren and L. D. Brandeis, “The Right to Privacy” (1890), 4 Harv. L. Rev. 193 at 193.
⁴⁹ See D. Feldman, Civil Liberties and Human Rights in England and Wales (Oxford: Clarendon, 1993), p. 399 where the author notes: “It is autonomy itself, the freedom to pursue one's own objectives and life-style and to enjoy personal space, which is the fundamental justification for privacy rights.”
⁵⁰ Canadian Charter of Rights and Freedoms, Part I of the Constitution Act, 1982, being Schedule B to the Canada Act, 1982 (U.K.), 1982, c. 11.
⁵¹ Ibid. See also Universal Declaration of Human Rights, GA Res. 217, UN Doc. A/810 (1948), Article 12 deals with protection from “arbitrary interference with [one's] privacy, family, home or correspondence” and “attacks upon [one's] honour and reputation.” The International Covenant on Civil and Political Rights has a similar provision and is legally binding on its parties, including Canada. Article 12 of that covenant states: “No one shall be subjected to arbitrary or unlawful interference with his privacy, family, home or correspondence, nor to unlawful attacks on his honour and reputation.” Other international instruments citing a right to privacy include the United Nations Convention on the Rights of the Child, GA Res. 44/25 (1989), art. 16., and the European Convention on Human Rights (1955), 213 U.N.T.S. 221, art. 8.
⁵² R v. Morgentaler, [1988] 1 S.C.R. 30.
⁵³ Ontario AIDS Society v. Ontario (1995), 25 O.R. (3d) 388, appeal dismissed (1996), 31 O.R. (3d) 798, leave to appeal to the Supreme Court of Canada denied, [1997] S.C.C.A. No. 33.
⁵⁴ R. v. Dyment, [1988] 2 S.C.R. 417.
⁵⁵ See Re Inquiry into Confidentiality of Health Records in Ontario (1979), 98 D.L.R. (3d) 704 (Ont. C.A.), (1981), 38 N.R. 588 (S.C.C.); Canadian AIDS Society v. Ontario (1995), 25 O.R. (3d) 388 (Gen. Div.); R. v. Osolin (1993), 109 D.L.R. (4th) 478 (S.C.C.); R v. O'Connor (1995), 130 D.L.R. (4th) 235 (S.C.C.), and A. (L.L.) v. B.(A.) (1995), 130 D.L.R. (4th) 422 (S.C.C.). On the issue of the fiduciary nature of the doctor-patient relationship generally, see McInerney v. MacDonald (1992), 93 D.L.R. (4th) 415 (S.C.C.).
⁵⁶ Canadian Medical Association, “Code of Ethics” (1996), 155 CMAJ 1176A. The physician is obligated to “[r]espect the patient's right to confidentiality except where this right conflicts with [his or her] responsibility to the law, or when maintenance of confidentiality would result in a significant risk of substantial harm to others or to the patient if the patient is incompetent; in such cases, take all reasonable steps to inform the patient that confidentiality will be breached.”
⁵⁷ Peters-Brown v. Regina District Health Board, [1995] S.J. No. 60 (Sask. Q.B.).
⁵⁸ (1990), 69 D.L.R. (4th) 755 at 757-8.
⁵⁹ Supra, note 53m McInerney.
⁶⁰ See also Norberg v. Wynrib, (1992) 92 D.L.R. (4th) 449 (S.C.C.); Henderson v. Johnston (1956), 5 D.L.R. (2d) 524 (Ont. High Ct.); and Cox v. College of Optometrists of Ontario (1988), 65 O.R. 461 (Ont. High Ct.).
⁶¹ Moe Litman and Lorraine Sheremeta, “The Report of the Committee of Inquiry on the Case Involving Dr. Nancy Olivieri: A Fiduciary Law Perspective” (2002), 10 Health L. Rev. 3.
⁶² Health Information Act, R.S.A. 2000, c. H-5, s.27.
⁶³ Ibid., s. 35(1)(m).
⁶⁴ Tarasoff v. Regents of the University of California, 551 P. 2d 334 (Cal. 1976).
⁶⁵ But see, Wenden v. Trikha (1993), 14 C.C.L.T. (2d) 225 (Alta. C.A.).
⁶⁶ See, for example, Pittman Estate v. Bain (1994), 112 D.L.R. (4th) 257 (Ont. Gen. Div). In this case, the wife of a patient who contracted HIV through a blood transfusion recovered damages from the Canadian Red Cross Society, the hospital and the family doctor for their failure to inform the patient that he had received contaminated blood. This case lends indirect support to the principle that, in exceptional circumstances, a doctor has a duty to warn a patient's partner of the risk of HIV infection, even though the duty involves disclosing confidential information without the patient's consent, and that failure to do so may result in the doctor being held liable in damages. See also MacPhail v. Desrosiers, [1998] N.S.J. No. 353 (QL) (C.A.), where the defendant, a physician at an abortion clinic, was held liable for a motor vehicle accident caused by a woman who had just terminated a pregnancy at the clinic.
⁶⁷ Supra, note 53, McInerney at 154: The right [of confidentiality] is absolute unless there is some paramount reason that overrides it. For example, there may be cases in which reasons connected with the safety of individuals or of the public, physical or moral, would be sufficiently cogent to supersede or qualify the obligation prima facie imposed by the confidential relation.
⁶⁸ Supra, note 60, Section 35(1)(m) allows the disclosure of confidential health information “to any person if the custodian believes, on reasonable grounds, that the disclosure will avert or minimize an imminent danger to the health or safety of any person.”
⁶⁹ See Canadian Medical Association, Code of Ethics (Ottawa: CMA, 1996), which allows a breach of patient confidentiality if there is “a significant risk of substantial harm to others.”
⁷⁰ For relevant jurisprudence, see Tarasoff v. Regents of University of California, 551 P. 2d 334 (Cal., 1976) and W. v. Egdell, [1990] 2 W.L.R. 471 (C.A.).
⁷¹ B. Knoppers and R. Chadwick, “The Human Genome Project: Under an International Ethical Microscope” (1995), 265 Science 2033 at 2033.
⁷² Personal Information Protection and Electronic Documents Act, R.S.C. 2000, c.5 (PIPEDA).
⁷³ Ibid, s. 3.
⁷⁴ Supra, note 70 (PIPEDA), ss. 7(2)(c) and 7(3)(f).
⁷⁵ An Act Respecting the Protection of Personal Information in the Private Sector, R.S.Q., c. P-39.1.
⁷⁶ Bill 44, Personal Information Protection Act, 3rd Sess., 25th Parl., Alberta, 2003 (First Reading 14 May 2003).
⁷⁷ Bill 38, Personal Information Protection Act, 4th Sess., 37th Parl., British Columbia, 2003 (First Reading 30 April 2003).
⁷⁸ Supra, note 1. See Appendix B of this paper.
⁷⁹ Halushka v. University of Saskatchewan (1965), 53 D.L.R. (2d) 436 at 443-44.
⁸⁰ Supra, note 60 (Health Information Act), ss. 48-55.
⁸¹ Supra, note 9.
⁸² Supra, note 18.
⁸³ Civil Code of Quebec, S.Q., 1991, c. 64, s. 21.
⁸⁴ Ellen I. Picard and Gerald B. Robertson, Legal Liability of Doctors and Hospitals in Canada (Scarborough: Carswell, 1996), 90-2; Kathleen Cranley Glass and Trudo Lemmens, “Research Involving Humans,” in Canadian Health Law and Policy, edited by Jocelyn Downie, Timothy Caulfield and Colleen Flood, 2nd ed., pp. 481–90 (Markham: Butterworths, 2002), p. 458
⁸⁵ Supra, note 20, art. 2.6.
⁸⁶ Timothy Caufield and Tim Outerbridge, “DNA Databanks, Public Opinion and the Law” (2002) 25 Clin. Invest. Med. 252.
⁸⁷ Lorraine Sheremeta and Bartha Maria Knoppers, “Beyond the Rhetoric: Population Genetics and Benefit-Sharing,” forthcoming.
⁸⁸ The Governance of Health Research Involving Human Subjects, online: Executive Summary.
⁸⁹ Supra, note 1.

http://cbac-cccb.ca

Created: 2006-07-07 Updated: 2006-08-02	Top of Page	Important Notices

Population Biobanking in Canada: Ethical, Legal and Social Issues

Table of Contents