Grant: Genomics and Personalized Health -Large-Scale Applied Genomics Res Projects

Genome-wide sequencing (GWS) is a powerful new genetic test that analyzes a person’s entire genetic make-up to diagnose the cause of genetic disorders. GWS generates unique genetic counselling issues, as it may diagnose disorders or disease risk factors that are unrelated to the original reason for testing. In addition, it can generate complex results that are difficult for nonexpert health providers to interpret. Currently, this technology is not routinely available in Canada, but because of its diagnostic capability, GWS will soon be available for most Canadian patients who need it. This means that many more families will be considering GWS as a test option, further increasing the demand for genetic counselling. Genetic counsellors are specialist healthcare providers with the expertise to lead the integration of genomics into patient care across all areas of medicine. They represent the “front line” of medical genetics. By providing education, emotional and decisional support to patients and families, guiding them to make informed decisions regarding genetic testing, they help prevent inappropriate decision making that can have devastating health and /or emotional consequences for patients and families. In Canada, there is limited access to genetic counselling. Factors such as cost of time and travel, language and cultural barriers exist for many Canadians. Furthermore, the lack of legal recognition of genetic counsellors in Canada means they work primarily in clinical genetics units at academic centres, rather than in the community. GenCOUNSEL, led by international researchers in genetic counselling, genomics, ethics, health services implementation and health economics will determine the most effective socio-ethical, clinical, legal and economic methods to provide genetic counselling with clinical GWS implementation. GenCOUNSEL aims to: understand the current and future need for genetic counsellors, investigate and develop best practices for delivery of genetic counselling, improve access to genetic counselling, in particular for underserved patient populations, and develop a framework for the legal recognition of genetic counsellors. These activities will result in increased access, patient satisfaction, and cost-efficiency through provision of effective and professional genetic counselling for all Canadians who need it.