Le consortium étant pan canadien avec des membres internationaux, tous nos documents sont rédigés en anglais. Nous faisons un effort pour traduire en français la majorité d'entre eux, mais ce travail n'est pas encore complété. SVP nous excuser pour la disponibilité exclusivement en Anglais de certains textes et illustrations.

The pace of genetic discovery. Since 1990, the rate of gene discovery has been exponential. These discoveries have set the foundation for the understanding and acceptance that genes are a significant determinant of health (1) and response to healthcare (2), and that virtually all disease has a genetic contribution to its causation. In the very next future, genetics will likely identify which individual genes, or group of genes, are associated to disease susceptibility or protection and which ones affect our response to therapy. For instance, knowledge of inborn errors of metabolism facilitates diagnosis, prevention and treatment. This experience sparked great interest in determining how genetic factors predispose to common disease. Since 1980, billions were invested in genetics and genomics research worldwide, to begin to answer this question. In the past decade, Canada alone invested an estimated $600 million in human genetic research (3), and Canadians have made significant contributions to gene discovery. However, to date, there has been little research to determine how these discoveries can be translated into practice and therefore improve health. We do not yet know how best to capture the benefits of this new knowledge. This lack of knowledge is highlighted by the fact that the effectiveness of commonly used tests, such as the BRCA breast cancer gene test, is often not established. Indeed, all developed countries have failed to effectively deliver new medical knowledge to their populations, as outlined in a recent commentary by a leading health researcher (4).

Capturing the health, social and economic benefits of genetic innovations is a significant opportunity for Canada, and a major objective of this research program. Genetic laboratory services are a corner stone of genetic services which rely on effective and timely diagnosis of a genetic condition or carrier status. Genetic testing is currently used to i)confirm a diagnosis where symptoms already exist (such as fragile-X syndrome), indicate whether someone with a family history of late-onset disease is likely to develop the disease (such as Huntington's disease), ii)test whether someone is a carrier of a recessive disorder (such as cystic fibrosis), or iii)screen before birth for genetic disorders (such as Down syndrome) or newborns for genetic disorders (such as phenylketonuria). Genetic laboratory services interface with all aspects of health services delivery and policy making. Indeed, as shown in figure 1, they are located at the interface with gene discovery and technology development in genetics, technology assessment and clinical evaluation, health care professionals (medical geneticists, genetic counselors, primary care and other physicians), public health, public policy and, not the least, the population through accessibility to laboratory services. Interactions between interfaces and stakeholders are principally realized through decision-making processes and tools, including evidence-based laboratory medicine, computer simulation, health economics, knowledge transfer tools and web-based education. Diagnostic tools emanating from gene discoveries need to be evaluated for their medical utility, cost-effectiveness and impact on quality of life. Government health agencies are currently ill prepared to provide a formal policy aimed at health professionals and decision makers in order to lead them to help the genetic field efficiently contribute to the general objectives of the health care system. Despite huge investments to discover and develop new technologies, Canada has minimal and dispersed capacity to evaluate not only the effectiveness of new tests and treatments, as mentioned in the Romanow and Kirby commissions and the 2003 Federal, provincial, territorial Health Care Renewal Accord (5, 6, 7), but also the dynamics that underlie the development of the field and their consequences on the continuous capacity of the health care system to meet its fundamental objectives. Recently, different projects, lead by members of this Consortium, were initiated to enhance technology transfer and knowledge translation downstream of genetic discovery. However, these initiatives are fragmented and do not individually encompass the full spectrum of expertise necessary to integrate cost-effective genetic innovations into health care in a timely manner. We propose to interface several such initiatives and build on them, thereby leveraging both the expertise and the resources.