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OBJECTIVES
CONTEXT - the Rationale for the Priorities of the IG
Part A: Initial Long-term Strategic Initiatives.
- The Specific Goals of the IG
Appendix 2 - Why population genetics is so critical to CIHR
Appendix 3 - Additional Strategic Initiatives of the Institute of Genetics
Strategic Direction Outlook (June 10, 2001)
OBJECTIVES
The Institute of Genetics (IG) will support research on all aspects of genetics, genomics and basic biochemistry related to human health and disease. Genetics is both the most fundamental biological science, as well as the foundation of modern medicine. Since all disease has a genetic component, the enormous morbidity and mortality resulting from genetic variation is probably inestimable. Consequently, the IG has a unique and critical responsibility: to nurture research and knowledge translation in all CIHR institutes, while nevertheless allocating sufficient resources to the optimal development of its own biomedical and health sciences. A more specific articulation of the goals of the IG is presented in Appendix 1.
CONTEXT - the Rationale for the Priorities of the IG
The current state of biochemistry and genetics research in Canada
Prior to the completion of the consultative processes - largely Workshops, outlined in Actions (below), it would be premature to make final generalizations about the state of all areas of biochemical and genetic science and health research in Canada that fall within the mandate of the IG. Nevertheless, many if not most of the major strengths and weaknesses in the areas of research relevant to the IG have been identified in the course of i) CIHR-sponsored Opportunity Workshops held over the past 18 months (on genetics, developmental biology, and several areas of biochemistry), ii) interactions between the SD and investigators across the country during visits to more than 15 institutions across Canada over the past 5 months, III) contributions from the IG IAB, IV) other ad hoc communications and meetings between the SD and members of the relevant communities.
Strengths
It is clear that Canada is very strong in some areas of basic genetic and biochemical research. For example, in the human genetics of monogenic disorders (such as cystic fibrosis) we are world leaders. Moreover, although our strengths are not uniform in many areas of biochemistry and genetics, there is often strong leadership, with pockets of internationally-recognized excellence. This situation prevails, for example, in developmental biology, some areas of proteomics (cell signaling), bioinformatics, and in the presence, throughout the country, of many remarkable geneticists and biochemists working on diverse topics. In genomics research, we have a number of international leaders, but in the past our efforts have been insufficient (although this situation should improve greatly due to the major strategic funding efforts of Genome Canada.) In the critical fields mentioned above that are blessed with leadership and scattered excellence but in need of overall development, the IG will often be able to give the leaders the resources required to make the difference embodied by the CIHR vision.
Weaknesses
The consultative processes of the past 18 months have also identified serious weakness in the country in a number of areas regarded by the community as of critical importance. The following six areas of biomedical and/or health research have been identified as in critical need of development. These six areas are therefore each a Priority of the IG, and the focus of Strategic Initiatives.
Organization of the Leadership of the Strategic Initiatives of the IG
To organize all areas of Priority in the IG, we have formed Priority and Planning Committees, often jointly with other Institutes, or with other funding agencies. For the most part, these P & P Committees are composed of 5-8 researchers from across the country, to take advantage of the talents of scientists and leaders who are not on the IAB (although IAB members contribute to these Committees as well, but are always a definite minority). At present, approximately 50 researchers outside the IAB are involved in P & P Committees.
Part A: Initial Long-term Strategic Initiatives
Priority 1. Population Genetics of Complex Diseases (Pillars 1-4).
Background
This Priority is the predominant one of the IG and is likely to occupy this position for at least the next decade. It is of great significance not only to the IG but to all CIHR Institutes. The impact of genetics on most disease is complex, and is due to variant forms of genes (predisposing alleles) that predispose the carrier to a risk of acquiring the disorder. The genetic basis of complex diseases is discussed in Appendix 2, which briefly outlines why this area of research is so critical to CIHR.
Despite both the feasibility and the need for strong initiatives in Canada in the population genetics of complex diseases, however, there are only about 10-12 human population geneticists in the country (whereas there are literally dozens of monogenic geneticists). A substantial increase in the number of population geneticists is therefore essential - an increase of three-fold is not likely to be an over-estimate of the needs of both academe and industry of such scientists. Consequently, the IG must first facilitate the education of a large increase in the number of population geneticists, and support strongly the current group of scientists in their work.
Initial Strategies
We have formed, with the Institute of Population Health (SD: John Frank), a joint Priorities and Planning Committee on the Population Genetics of Complex Diseases (first meeting, June 26, 2001) to lead our efforts in this area. Critically, both Genome Canada and the CGDN will join with us in planning a national Workshop (early autumn, 2001) to plan research in this field. Our initial strategies are as follows:
Greatly increase both the number of scientists and research capacity
Build on existing strengths including Canada's health care system and unique populations (aboriginal communities and founder populations)
Define strong ethical guidelines for research in populations with specific needs, involving the population in the process
Focus, at least initially, on complex diseases in which Canada already has research strength
Foster the development of patient databases that include genotypic and phenotypic characterisation of patient populations with Institute of Population and Public Health and Institute of Health Services and Policy Research
Engage virtually all other Institutes in this initiative
Initial Actions
Joint P&P committee with IPPH has been formed to lead this initiative. First meeting on June 26, 2001 in Toronto
Workshop being planned jointly with Genome Canada and Canadian Genetic Disease Network
Training Centres RFA launched. Minimum commitment for funding of one Centre for 6 years, at $250,000/yr. Partner contributions may increase the number of Centres funded.(see Appendix 3)
Career Transition Award RFA to be launched in July, 2001; one-year commitment (at present). To allow scientists from other disciplines to retrain as population geneticists (e.g. from fish population genetics). Two awards will be offered, each at $80,000/yr. for one year.(see Appendix 3)
Short-term Exchange Program RFA to be launched in July, 2001; multi-year commitment. To facilitate acquisition of population genetics training by scientists from other disciplines.(see Appendix 3)
Background
The identification of this Priority by the genetics and health services communities is, beyond question, a true child of the CIHR, with its emphasis on pillar-crossing research. The explosion in our understanding of the genetic contribution to both monogenic and genetically complex diseases requires that the public investment in this research be matched by efforts to demonstrate to provincial governments that it is in their best interests to deliver this new knowledge to the public. However, at the present time there are virtually no geneticists in Canada whose research is focussed on health services, nor are there any health service researchers whose major interest is in genetics. Nevertheless, excellent researchers from both disciplines who have some experience or interest in this new area have been identified, allowing us to begin to begin to address the challenges of research in this important area. Moreover, the province of Quebec, in particular, has an enviable track record in the application of genetic knowledge to medicine and its population and will provide considerable insight and experience. Finally, we presently include knowledge translation about genetics under this initiative, since such communication, both to the public and to the primary care-giver, is key to the success of this effort.
Initial Strategies
The IG has, together with the IHSPR (SD: Morris Barer), formed a joint Priorities and Planning Committee which will first meet in the autumn of 2001, to plan a national Workshop. Some of the goals of this initiative will be to:
Facilitate the integration of genetics into clinical practice by:
incorporating advances of molecular testing into established programs
enabling predictive and prognostic testing
permitting evaluative research on genetic tests and services
Develop and evaluate educational programs and communication resources for health professionals, patients and public users
Improve the genetic health care delivery to diverse groups
Propose policies to federal and provincial governments concerning the availability and regulation of genetic tests
Establish patient databases linked to health care services; surveillance issues
Initial Actions
Joint P&P committee with IHSPR has been formed to lead this initiative
Workshop is being planned
Education and Outreach RFA to be launched in July, 2001 (see Appendix 3)
Web site on Health Information for Genetics to be created, together with Genetic Counselors of Canada
Background
The Institute of Genetics recognizes that medical research will shift its direction over the next five years from the process of gene discovery to an escalating emphasis on the molecular nature of protein structure and function, or "Proteomics". Defects in proteins or their levels of expression account for virtually every known human disease and are therefore, the primary targets in pharmaceutical development. The field of proteomics encompasses new technologies for the rapid separation and analysis of proteins at massive scale. The interest of other CIHR Institutes in this important initiative is indicated by the fact that at least 10 other Institutes have agreed to support the Workshop in Proteomics that the IG has organized for Aug. 27-29, in Kingston.
Initial Strategies
Increase both the number of scientists and research capacity
Creation of summer schools to provide hands-on training for investigators in key platform technologies such as mass spectrometry, crystallography and membrane protein biology
Coordination of major Canadian proteomics efforts with international efforts, thereby assuring Canada a place in the information trade
The establishment of several proteomics platforms across the country that will assure that Canadian biomedical researchers have access to technologies that are vital to their ability to compete internationally
Support for the development of novel enabling technologies in proteomics and related information management
Coordination of disease-based proteomics efforts in diabetes, cardiovascular disease and neurolologic disease, and other diseases.
Initial Actions
P&P committee has been formed to lead this initiative
Training Centres RFA launched (see Appendix 3)
Career Transition Award RFA to be launched in July, 2001 (see Appendix 3)
Short-term Exchange Program RFA to be launched in July, 2001 (see Appendix 3)
Workshop planned for August 27-29, 2001
Background
Bioinformatics in its broadest sense is concerned with the application of computational approaches to the solution of biological problems. This includes DNA, RNA and protein sequence analyses, data mining, molecular evolution, in silico simulations of cellular signaling and metabolic networks, computational molecular and structural biology and the analysis of high through-put data arising from DNA and protein microarrays, mass spectrometry and densitometry. Bioinformatics arises at the intersection of computing and molecular and structural biology and it thus a multi-disciplinary science concerned with the development of methods for the acquisition, manipulation and analysis of biological data which will ultimately result in biological and medical discoveries. Canada, with its strengths in computer sciences, biological and health sciences, is well positioned to be a leader in this new discipline. The IG, other CIHR Institutes, and Genome Canada are committed to supporting research and training initiatives in Bioinformatics.
Initial Strategies
Increase both the number of scientists and research capacity
Meet the huge demand of the general biomedical research community for knowledge of basic bioinformatics
Create a national resource by building a coherent national strategy in bioinformatics in coordination for the entire country, together other organizations such as Genome Canada, the CGDN, NRC, Health Canada
Establish links to other national and international bioinformatics entities
Develop multi-centre projects to support the national strategy in bioinformatics
Develop strategic interactions between bioinformatics and medical informatics
Link diverse disciplines such as mathematics, engineering, and the physical sciences to the bioinformatics of the life sciences
P&P committee has been formed to lead this initiative
Training Centres RFA launched (see Appendix 3)
Career Transition Award RFA to be launched in July, 2001 (see Appendix 3)
Short-term Exchange Program RFA to be launched in July, 2001 (see Appendix 3)
Planning Workshop being organized jointly with Genome Canada, CGDN and probably others (e.g. NRC)
Support the excellent Bioinformatics Training Workshops run by the CGDN
Background
Canada is internationally recognized for its leadership in many areas of human and medical genetics, and clinicians have often been amongst the most outstanding figures in this field. Apart from a small number remarkable individuals, however, Canadian clinical geneticists who do research on populations of patients (vs. in the lab) have been comparatively few (a problem common to all areas of clinical research, in most countries). Because of the increasing relevance of genetics to the diagnosis and management of patients in all walks of medicine, to the study of population genetics, and to the design and application of health policy and services, the need for clinical genetics researchers is substantial and increasing. The IG has recognized that the development of clinical genetics research will be best facilitated by the establishment of Clinical Genetics Research Centres in critical locations throughout the country. These centres will serve as focal points for the organization of the many interfaces between genetics, patients, populations, diagnostic laboratories, and health policy and government agencies.
Initial Strategies
Increase both the number of scientists and research capacity in clinical genetics
Co-ordinate research activities of the different types of clinical geneticists (e.g. cancer, biochemical, dysmorphologists, etc.)
Establish several Clinical Genetics Research Centres across the country
Facilitate knowledge transfer and mutual education between clinical geneticists and developmental biologists
Establish genetic disease and birth defect registries/databases
Organize Consortia of patients with specific genetic disease, both to facilitate clinical research and create formal links between genetics and patient communities
Promote the study of the natural history of the disease
Initial Actions
P&P committee has been formed to lead this initiative
Career Transition Award RFA to be launched in July, 2001 (see Appendix 3)
Short-term Exchange Program RFA to be launched in July, 2001 (see Appendix 3)
Workshop being planned for August 19-20, 2001
Background
Canada has a number of internationally respected leaders in the field of bioethics, but again, because of the rapid emergence of numerous novel ethical issues arising from genetic discovery, the existing researchers cannot meet the demands for their skills. Thus, the IG must both i) encourage the development of increased number of investigators working in this field and ii) foster research on subjects including, for example, ethical issues related to research, care strategies, access to care, population screening, privacy and the use of genetic information, and community and population-based risk management strategies. In this context, all research areas of the CIHR Institute of Genetics will include discussions or even workshops to provide (to the broad genetics research community) opportunities for the exploration and discussion of new ethical, legal and social concepts, to evaluate complex difficult-to-resolve issues related to genetics and human subjects.
Initial Strategies
Increase the number of scientists
Integrate health care ethics into all IG programs by:
promoting discussion on bioethical, legal and social issues (ELSI), as a part of all IG activities
keeping the Institute Advisory Board and Workshop meetings informed of the latest bioethical, legal and social issues related to new developments in genetics
Sponsor research on ELSI in genetics
Initial Actions
P&P committee formed to lead this initiative
Training Centres RFA launched (see Appendix 3)
Career Transition Award RFA to be launched in July, 2001 (see Appendix 3)
Short-term Exchange Program RFA to be launched in July, 2001 (see Appendix 3)
The goals of the IG will be, first, to enhance the ability of basic and medical geneticists, as well as developmental biologists, structural biologists, biochemists, proteomicists and bioinformaticists, to do their work and to train future generations of scientists. Second, the Institute will encourage translational research by fostering collaboration between basic and clinical researchers in biochemistry and genetics throughout Canada. The effectiveness of this interdisciplinary dialogue will require the development of strong clinical genetic research initiatives and the training of additional academic clinical geneticists. Third, the Institute will collaborate with other Institutes of the CIHR to optimize the impact of genetic discovery on other disciplines.
The IG will also take advantage of the excellent genetics organizations that already serve the Canadian genetic and medical communities, by working with them to identify common goals. To this end, formal links have been established between the IG, the Canadian Genetics Diseases Network, and Genome Canada, as well as other key organizations. Fourth, the IG will assist in bringing the biochemical and genetics expertise of other countries to the Canadian medical science community, and in promoting the knowledge and experience of Canadian scientists internationally. Fifth, a critical responsibility of the IG will be to examine the ethical, legal and social implications of new genetic and biochemical discoveries. The IG will seek the opinion of the scientific, medical and lay communities in developing informed positions on the complex issues that will inevitably be generated by new findings and technical developments. Finally, the IG recognizes the paramount importance of its responsibility to inform the Canadian public of important new genetic and biochemical knowledge of general and medical significance.
APPENDIX 2 - Why population genetics is so critical to CIHR
The impact of genetics on most disease is complex, and is due to variant forms of genes (predisposing alleles) that predispose the carrier to a risk of acquiring the disorder. Whether the condition actually develops depends on whether others factors are also present, particularly environmental exposures (such as viruses, smoking, dietary factors) or yet other predisposing alleles. Many birth defects and virtually all of the common adult-onset disorders such as diabetes, hypertension and heart disease are genetically complex traits of this type. (Contrast these diseases with monogenic conditions such as CF, which the mutant gene alone causes the disease). Identification of the risk alleles of the complex diseases requires the study of populations with and without the disease, and of their environment. Population genetic research is therefore of great importance to the core objectives of all CIHR Institutes. Data from the Human Genome Project has suggested, for the first time, that it may be possible to identify the risk alleles of complex traits, by providing millions of new genetic markers (called SNPs). The possibility that risk alleles may be identifiable is of great interest not only to science and medicine, but also to the pharmacological industry, which is focussed on one facet of population genetics, termed pharmacogenomics.
APPENDIX 3 - Additional Strategic Initiatives of the Institute of Genetics
|
STRATEGIC |
STRATEGY |
ACTIONS |
MOST IMPORTANT |
|
Part A: Long-term initiatives (eight) | |||
| 7. Birth Defects
(joint initiative with Institute of Human Development, Child and Youth Health) |
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| 8. Coordination of IG strategy planning with VHOs |
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|
STRATEGIC |
STRATEGY |
ACTIONS |
MOST IMPORTANT |
| Part B: Multi-year SIs (two) | |||
| 1. Training Centres
in any area relevant to the IG, but specifically in:
|
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|
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| 2. Short-term exchange program |
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|
STRATEGIC |
STRATEGY |
ACTIONS |
MOST IMPORTANT |
| Part C: One-year SIs (two) | |||
| 1. Education and Outreach Initiative |
|
|
|
| 2. Career Transition Awards |
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|
|
STRATEGIC |
STRATEGY |
ACTIONS |
MOST IMPORTANT |
| Part D: Other Initiatives (five) | |||
| 1. Celera Database Subscription |
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| 2. BluePrint (Biomolecular Database) |
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Two plans to attract and retain young Canadian talent in biochemistry genetics and other areas of relevant to IG (3-4): |
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| 4. Post-doctoral Networking Program |
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| 5. Institute web site |
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Three Institutes are working on this initiative:
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|
STRATEGIC |
STRATEGY |
ACTIONS |
MOST IMPORTANT |
| Part E: Workshops with Other Institutes (two) (i.e. Institute of Genetics is not the lead Institute) | |||
| 1. Prion Disease Workshop |
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| 2. Longitudinal Study of Healthy Aging |
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