COMPLETED The Atlantic Medical Genetics and Genomics Initiative (AMGGI)
The Atlantic Medical Genetics & Genomics Initiative (AMGGI) was a $9.6 Genome Canada project to ascertain, collect and molecularly characterize 28 new monogenic disorders in Atlantic Canada.
AMGGI was developed to systematically identify genes and genetic mutations related to familial, monogenic disorders in communities throughout the Atlantic Provinces. The research program linked human genetic research efforts in Newfoundland, based at Memorial University, with activities in the three Maritime Provinces, centred at Dalhousie University. The interdisciplinary project team, led by molecular geneticists, brought together recognized experts in clinical ascertainment, gene discovery, genetic diagnostics, genetic counseling, health economics and human ethics.
One of the major accomplishments of AMGGI was the development of a diagnostic kit to determine if an individual is susceptible to sudden cardiac death. The AMGGI team discovered a mutation that was found to be causative for sudden cardiac death, and the diagnostic kit was developed on the basis of this mutation. Patients can now be screened for the mutation with the help of this diagnostic kit, and implantable cardioverter defibrillator (ICD) devices can subsequently be implanted to prevent sudden cardiac death. See more about this in the News section below.
The comprehensive program, from ascertainment and discovery to genetic diagnostics and community outreach, leveraged regional health care resources through the active recruitment of community-based clinicians to assist in identifying disorders, families and individual cases for the discovery effort. The AMGGI project generated tangible socioeconomic benefits by improving health care and disease management options for individuals, families and communities in Atlantic Canada burdened by relatively isolated but devastating monogenic disorders, and served as a model for human genetic research internationally.
The population of Atlantic Canada is internationally recognized as one of the world’s most valued human populations for gene discovery and related medical genomics research. The AMGGI project was a Canadian health research initiative that made use of the region’s human population structure and history, as well as the quality of the health care system, to provide a streamlined process to identify genes that have a major impact on health.
Knowledge generated from the initiative was transferred to local health care providers to improve clinical management. Thorough evaluation of the impact of genetic information on the health and wellbeing of patients, families and communities and economic costs/benefit analysis was an integral part of the research program. The AMGGI project maximizes use of Atlantic Canada’s natural human genomics resource for efficient, cost-effective and significant medical breakthroughs.
An integral component of the AMGGI proposal was the innovative study of the potential impacts of genetic discovery on the provision of health care services, including assessing the wellbeing of patients and families who are affected by genetic conditions and who are the most likely consumers of new genetic technologies. The GE3LS (Genomics, Ethics, Environment, Economic, Legal and Social Issues) team examined the values, beliefs and practices of physicians and genetic counselors who are the potential providers of genetic services, as well as those of patients, families and communities in which these services are offered.
The GE3LS team assessed the genetic burden of disease at a variety of levels (personal, community, provincial, federal) and along a number of dimensions (ethical, legal, psychological, sociological, and economic) in a well-defined population. The team included regional directors of medical diagnostic laboratories as part of the commitment to facilitate knowledge transfer to the health care system.