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Profile of the Institute
The Consultative Process: A Grassroots Approach
Strategic
Research Priority Themes
Organizational Structure
Management and Evaluation
Financial Resources
Conclusions and Next Steps
Our Vision is to become the leading Canadian organization for the advocacy, development and support of all fields of genetic, basic biochemistry and cell biology research, maximizing the health opportunities offered by this knowledge to the benefit of Canadians and the global community.
Our Mandate is to support research on the human and model genomes and on all aspects of genetics, basic biochemistry and cell biology related to health and disease, including the translation of knowledge into health policy and practice, and the societal implications of genetic discoveries (Figure 1).
The Canadian Institutes for Health Research (CIHR) was established in June 2000 to "excel in the creation of new knowledge and its translation into improved health for Canadians, more effective health services and products and a strengthened Canadian health care system". Most notably, CIHR has a broader mandate than its predecessor, the Medical Research Council of Canada (MRC).This mandate embraces all forms of health research, from the study of molecules, to research on health policy and populations. In addition, CIHR has been charged with the responsibility of examining social, ethical and legal issues related to health, a responsibility that is particularly acute with the technical possibilities of modern biology (including genomics, cell biology, stem cell research and cloning). Knowledge translation is also a major component of the mandate of CIHR, a component that will assure that the Canadian population receives the benefit from its investment in health research.
CIHR's mandate and structure are unique in the world. CIHR is structured around 13 Institutes that each support research in biomedical, clinical, health systems and services and population health.The Institutes are based in universities or teaching hospitals across the country, but may also have staff located in a variety of other venues.The Institutes are part of a larger national research network that links researchers and other stakeholders across the country.
Established in December 2000, the Institute of Genetics (IG) is one of 13 Institutes of CIHR. The Institute is based at The Hospital for Sick Children in Toronto, the home institution of the inaugural Scientific Director, Dr. Roderick R. McInnes.
The Institute's Advisory Board (IAB) consists of 17 individuals with exceptional qualifications and demonstrated leadership - from Canada and abroad - under the guidance of the inaugu ral Chair, Dr. Joel Weiner, and the inaugural Vice-Chair, Dr. François Rousseau.
In the complex funding landscape of Canada, the IG has a special responsibility to support research in fundamental biomedical science. The increasing importance to health research of the basic disciplines of genetics, biochemistry, proteomics, cell biology and bioinformatics derives partly from the following forces:
Emerging disciplines
In addition to supporting established areas, the Institute recognizes that new fields of health research are continually emerging. Investigators working in these nascent, leading-edge fields will require the support of the Institute of Genetics in developing their programs and in bringing the significance of their work to the attention of other disciplines. The rapidly expanding science of bioinformatics, for example, has a central role in integrating the massive amount of new information flowing from the genome project into more established fields. Research in mathematics, physics, chemistry and engineering is also of increasing relevance to biology and medicine, and the Institute will foster the integration of these scientists into health research. Finally, the ethical, legal and social issues that emanate from the science and medicine of genetics are of great importance to policy makers and to the public, as well as to the research community. These issues require special consideration in all of the activities supported by the Institute of Genetics.
The importance of the Institute of Genetics to other CIHR Institutes
There is increasing recognition of the genetic contribution to virtually all disease processes, and therefore to health. Consequently, the study of genes and genetics is central to the well-being of all Canadians.The importance of genetics to all branches of health research therefore requires that the Institute facilitate and support the genetic, biochemical and cell biology research of the 12 other CIHR Institutes. In these diverse roles, the activities of the IG are of significance to the entire health research community..jpg)
Figure 1.
The major research communities aligned with the IG
This figure highlights the importance of translating research knowledge to the Canadian population
Ourvalues:
Figure 2.
Grassroots consultation process
Strategic Planning Retreat held in September 2002 (Aylmer, Quebec), and attended by approximately 60 leading researchers, academics, government and scientific policy makers in the genetics, biochemistry, cell biology and social science research communities. The following six research priority themes have emerged from the grassroots consultation process and have been adopted by the IAB:
These Research Priority Themes were selected because each of these areas of research is considered to be of fundamental and increasing national importance, and because strategic funding is considered likely to have a significant impact in building on Canadian research strength, or in addressing a critical weakness.The designation of these Research Priorities will direct greater resources for training and research to these fields of investigation.
The Research Priority Themes From Genes to Genomic Medicine and Proteomics build on the established strengths in Canada in human molecular genetics and proteomics research. Others, such as Clinical Genetics Research and Health Services for Genetic Diseases, exemplify areas where there is a great need to enhance Canadian research in the discipline. In these nascent fields of research, where the existing community is often small and inexperienced, it will be the goal of the Institute to support the research community to the point where they can be successful in the CIHR Open Competition.The choice of other Research Priorities, including Population Genetics, Genetic Epidemiology, and Complex Diseases, and of both Genetics and Ethical, Legal and Social Issues, as well as Bioinformatics, recognizes the presence in Canada of relatively small but internationally respected cohorts of Canadian researchers in each of these fields.The efforts and expertise of these leaders will provide the foundation for increasing Canada's capacity and impact in these critically important disciplines.
By definition, the Research Priority Themes are not permanent. Rather, the Institute will continue to evaluate these Themes, and the scope of strategic initiatives within them, in consultation with the research community, partners (particularly other CIHR Institutes and national funding agencies), and other stakeholders.The Institute will change or modify its strategic directions over the years, in response to the ever-changing international research landscape.
Each Research Priority Theme is examined at greater length in subsequent sections of this Strategic Plan.
Strengths, Opportunities & Challenges
During the strategic planning process, the research community identified strengths, opportunities and challenges that will influence the strategic directions of the Institute:
Strengths
Opportunities
Challenges
Strategic Goals
Four strategic goals will guide the activities of the Institute of Genetics in the coming years, as indicated:
Supporting individual investigators and strengthening the IG research community
The IG bears a special responsibility to support the work of individual investigators and research communities in the fundamental biological and biomedical sciences, and of researchers investigating social, legal and ethical issues related to genetics.
Supporting individual investigators
Throughout the consultation process, there was a consistent request that the Institute provide clear and unwavering support for investigator-initiated research. The IG research community is looking for the Institute's support of their work through the CIHR Open Operating Grants Program. The expected support includes advocacy for adequate funding, access to essential infrastructure and a range of funding programs to seed and strengthen the CIHR Open Competition.
In addition, the IG has developed a suite of Regular Funding Programs (continuous launch cycle) that are a constant feature in the IG research funding landscape.
Figure 3 Our Regular Funding Programs:
Subject to an annual review by the Institute Advisory Board, these programs are designed to facilitate training and/or research within the IG Research Community.
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Strengthening the IG research community
To fulfill its mandate, the Institute must work with its constituent communities to facilitate the development of their areas of research.
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Advancing research and building capacity in areas of strategic priority
The Institute must facilitate the research of all members of its research community, and continue to support our strong research communities in the basic sciences of genetics, biochemistry and cell biology. In addition, however, the Institute must also maintain its strategic focus and concentrate funding in its areas of research priority. An essential part of this process is to build researcher capacity in those Research Priority Areas in which the training of additional investigators is deemed to be critical.
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Establishing Strategic Partnerships
The broad research mandate of the Institute, together with the importance of disseminating new knowledge that emanates from this research, underscores the requirement for the Institute to build multiple and effective partnerships. The Institute will identify and facilitate partnership opportunities with health research stakeholders whose interests align with the vision, mandate and strategic goals of the Institute, to the mutual benefit of all parties.
While partnerships provide additional financial resources for research, they are also critical to the Institute for other reasons. A key tenet of creating partnerships is to engage stakeholders at early stages of our activities, to allow the Institute to develop research programs that align with the interests of the stakeholder as well as the Institute. Early engagement facilitates more effective knowledge transfer and exchange - including the sharing of best practices. Partnership activities create synergies, eliminate redundancies in research activities and funding, and lead to a more effective use of resources. At the international level, the Institute will collaborate with international colleagues to build on the strengths of Canadian researchers, thereby complementing our expertise with that of other countries.
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Voluntary Health Organizations
The IG Voluntary Health Organizations (VHO) Working Group is a critical link between the Institute and the VHO community in Canada. The members of the working group inform and advance the IG research agenda and advise the Institute, and through it, CIHR, of their own research objectives. This Working Group is essential in assuring that CIHR facilitates the work of these national organizations.
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Facilitating the knowledge transfer of genetic and biochemistry discoveries, and the examination of their ethical, legal and social implications
One of CIHR's principal obligations is to accelerate "the discovery of cures and treatments and improvements to health care, prevention and wellness strategies." The ever-accelerating generation of new genetic and basic biomedical knowledge, which is relevant to virtually all areas of medicine, has created a remarkable challenge in knowledge translation. In addition, the appetite for information on in both the public and scientific communities. The Institute of Genetics recognizes the enormous disparity between extant and expanding knowledge in genetics and the biomedical sciences, and the highly imperfect level of awareness of this knowledge and its applications.
Accordingly, a primary objective of the Institute is to promote knowledge translation health services providers to fully appreciate the benefits of a strong national investment in health research. The Institute of Genetics and its research community must facilitate the transfer of new knowledge to researchers in other disciplines, to physicians and other health care givers, and to policy makers, governments and the public.
For the public sector, knowledge transfer of the findings of health research constitutes the foundation for the fair allocation of financial and human resources for health care. Without a full appreciation of the substance and significance of this new knowledge, no government can make informed decisions on the future of health care.
The scope and breadth of the Institute mandate, and the need to reach out to a diverse group of stakeholders, including the public as well as policy makers, requires a multifaceted knowledge translation strategy for the Institute and for the CIHR.
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The identification, confirmation and constant reassessment of its six Research Priority Themes are major responsibilities of the Institute. They are:
Integrating the Physical and Applied Sciences into Health Research
It is becoming quite evident that many of the significant findings in health research have been - and continue to be - greatly influenced by advances in the physical and applied sciences. For example, advances in proteomics and genomics have benefited greatly from engineering initiatives in nanotechnology, robotics, imaging technologies and surface chemistry. Similarly, there is ample evidence that many of the new directions in the physical and applied sciences had their start in the biological and biomedical fields. Examples of the latter can be found in recent research initiatives in biomaterials ranging from new adhesives through new peptide-based gel materials for drug delivery.
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Proteomics and Bioinformatics
Two Priority and Planning (P&P) Committees, one for Proteomics and the other for Bioinformatics, will guide the Institute in defining the strategic goals of this important theme.
Proteomics
The IG recognizes that medical research is increasingly shifting from the process of gene discovery to an emphasis on the molecular nature of protein structure and function on the genomic scale. This field, called "proteomics", studies the proteome (the complete protein complement of a given genome). Presently, the research community is in a position to capitalize on applications of existing proteomics technology where Canada has strength: structural proteomics, protein function discovery, protein-protein interactions and analysis of protein complexes. The emerging area of proteomics research is the integration of proteomics into a "global view" of cell structure and function (e.g., sub-cellular localization of individual proteins, on the proteome scale). Integration with other disciplines, including bioinformatics, chemistry, physics and engineering, is crucial to the success of proteomics research. We can also anticipate an increasing use of proteomics tools in clinical laboratory medicine.
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Bioinformatics
In its broadest sense, bioinformatics is concerned with the application of computa tional approaches to the solution of biological problems. This field includes DNA and RNA protein sequence analysis, data mining, molecular evolution, in silico simulations of cellular signaling and metabolic networks, computational molecular and structural biology, and the analysis of high throughput data arising from DNA and protein large scale analysis. A multidisciplinary science, bioinformatics lies at the intersection of computational, molecular and structural biology. It is therefore concerned with the development of methods for the acquisition, manipulation and analysis of biological data, as well as for testing research hypotheses that will ultimately result in biological and medical discoveries. Canada, with its strengths in mathematics, computer sciences and biological and health sciences is well positioned to be a leader in this new and emerging discipline. The Human Genome Project and other recent discoveries have transformed biology into an information science. This transformation has created a tremendous international demand for bioinformaticians.
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Support and facilitate community-building and networking activities
From Genes to Genomic Medicine (including Clinical Genetics Research)
The overall goal of this Research Priority Theme is to foster research leading to the clinical application of genetic discoveries. It will be directly aligned with CIHR's strategic objective of "stimulating research activities that accelerate the translation of research into action". The challenging, complex, multi-step process leading from basic research discoveries to their ultimate integration into clinical practice will require the active participation and collaboration of many research disciplines and partners. To facilitate this process, the Institute will support research that bridges clinical and more basic research expertise. Canadian clinical investigators work within a publicly-funded health care system that confers important advantages compared to researchers in many other countries. The prevalent culture favors collaboration, as well as clinical and population research. In addition, the community of GELS researchers will enable clinical investigators to observe and address ethical issues related to clinical research.
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Clinical Genetics Research
The support of clinical genetics research is an integral component of this research theme. Apart from a small number of outstanding individuals, clinical genetics research is an underdeveloped area in Canada - a weak link in the translation of new discoveries to the clinic.
The demand for clinical genetics researchers is substantial and increasing.This demand is driven by a number of factors, including the identification of the genes associated with single gene diseases, the development of treatment for these individually rare disorders, and the increasing relevance of genetics to the diagnosis and management of patients in all areas of medicine, particularly the genetically complex common diseases. Moreover, the increasing importance of novel molecular therapies requires their evaluation in well-designed clinical trials.
Despite the exciting potential of laboratory research for clinical applications, several major factors impair the translation of knowledge from the lab to the clinical population.These factors include the limited number of clinical investigators, the failure to provide them with mentors and defined career paths, the weakness or absence of local peer groups, and the near-absence of adequate and stable platforms and infrastructures for their research. Moreover, the research interests of many clinical geneticists become overwhelmed by the ever-present demands of the clinic. One major goal of this Theme, therefore, is to identify remedies for these rate-limiting factors, and to enact strategies and provide platforms that will introduce the structural changes required to make Canada a leader in clinical genetics research.
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Facilitate knowledge transfer to the public and among clinical genetics disciplines
Population Genetics, Genetic Epidemiology, and Complex Diseases
The Human Genome Project, together with advances in other fields such as population genetics and genetic epidemiology, has made it feasible for researchers to begin to elucidate the genetic contribution to common diseases, which are genetically complex. Consequently, this priority will remain a predominant long-term research theme of the Institute of Genetics. The impact of genetics on most dis eases is due to variant forms of genes (predis posing alleles) that confer on the carrier an increased risk of acquiring the disorder. Whether the condition actually develops depends on the presence of other factors, particularly environmental exposures. Consequently, identification of the risk alleles of complex diseases requires both the genetic analysis of populations and of their environments. Since the identification of the causes of the common diseases is of great importance to the core objectives of all CIHR Institutes, this strategic priority is of interest to the entire CIHR community. The opportunities and challenges in this area for the next 5 to 10 years include the development of conceptual and methodological foundations, the design and methodology for large scale population-based approaches, and the integration of diverse research communities. Further challenges relate to building investigator capacity and addressing the shortage of practitioners and methodolo gists with knowledge and experience in more
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Establish partnerships and alliances with Canadian and international agencies to facilitate research within this theme
Health Services for Genetic Diseases
The explosion in our understanding of the genetic contribution to both monogenic and genetically complex diseases requires a corresponding increase in our efforts to deliver this new knowledge to the Canadian population. For example, we must determine how new knowledge about disease genes is best transferred to health care givers, to patients and to their families. Our increased knowledge of genetics requires that we determine which genetic tests should be offered, given economic realities. We must also learn how to evaluate the efficacy and impact of the transfer of knowledge about genetic dis ease, so that policy makers and governments can make informed decisions about the delivery of health services for genetic diseases.
Actions
Strengthen the health care system and promote health by fostering mechanisms
that will integrate information regarding effective genetic products and services
into clinical practice
Genetics and Ethical, Legal and Social Issues
The impact of genetics is evident at many levels of our society.The ethical, legal and social issues related to genetics will play a critical role in the way humanity perceives itself and will influence the way in which research is performed. Although Canada has many internationally respected leaders in GELS research, the rapid emergence of numerous, novel GELS issues requires that the number of researchers working in this area be greatly expanded; thus, research training in this area is a constant focus of our Institute.
Actions:
Explore and develop knowledge transfer strategies customized for the
dissemination of GELS research findings to target audiences in other professional disciplines and to the public at large
The leadership of the Institute of Genetics is widely distributed across Canada. The blue circles indicate P&P Committees that support the IG Research Priority Themes. The white circles indicate P&P Committees that support the IG Enabling Strategies.
The staff of the Institute is responsible for the implementation of the Strategic Plan under the guidance and direction of the Scientific Director and Institute Advisory Board. The Strategic Plan and the Research Priority Themes will be reevaluated on a regular basis, to best reflect changing research needs and emerging priorities.
The Institute will be evaluated in accordance with the CIHR document - "A Performance Measurement Framework for the Canadian Institutes of Health Research". The Institute of Genetics will measure and report on the effectiveness and impact of all programs that it has developed, and on other activities undertaken by the Institute, based on the outcomes indicated in this document. These outcomes include:
Institute Support Grant
Each Institute receives $1 million annually to operate and to develop the research communities that it represents, through an array of collaborative activities including workshops and national meetings.
The development of the IG Strategic Plan has been a comprehensive and national process, involving extensive consultation with members
of the IG-related scientific community and key stakeholders with a shared interest and passion for genetic, biochemistry and cell biology research, and research on the social, legal and ethical issues related to genetics.
The Strategic Plan provides a framework to advance the mandate of the Institute. It has been designed to provide a clear vision and sufficient direction for its highly dispersed and independent community, while being flexible enough to respond effectively to the many opportunities and challenges that may present themselves to the Institute over the next five years.
Acknowledgements
I would like to thank the many Canadian research leaders who have contributed so much time and effort to the development of this Strategic Plan, in particular the Institute Advisory Board members, the Chairs of the 12 Priority and Planning Committees of the Institute of Genetics, and the Voluntary Health Organizations Working Group. In addition, I am greatly indebted to the staff of the Institute for bringing this document to life. Stephanie Robertson, the Institute Assistant Director in Ottawa, and Amanda Devost, the Institute Project Officer, were responsible for the coordination of this document, and together with Milka Popov, the Assistant Director in Toronto, and Jennifer Jennings, the Executive Assistant and Project Manager, they have produced what I believe to be an excellent road map for the Institute for the next few years.
Contact
Roderick R. McInnes
MD, PhD, FRS(C)
Scientific Director
(416) 813-7400
rodig@sickkids.ca
http://www.cihr-irsc.gc.ca/
