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Rare Diseases

GenCOUNSEL: Optimization of genetic counselling for clinical implementation of genome-wide sequencing

Genetic testing to analyze a person’s entire genome, called genome-wide sequencing (GWS), is an exciting and potent new tool for diagnosing disorders, diseases, and risk factors. However, the information garnered from this type of testing can be overwhelming and may be misinterpreted by non-experts. Genetic counsellors are health professionals that aid patients and families in making informed decisions around this type of testing. However, due to the small number of counsellors in Canada and lack of legal recognition, access to their services is extremely limited. As the access to GWS improves and cost decreases, the use of this technology will increase along with the need for genetic counselling. The GenCOUNSEL project will determine the most efficient methods of providing genetic counselling services in the clinic. The project will investigate the legal, economic, social, and clinical aspects of improving access to these services in an equitable manner across Canada. GenCOUNSEL is based at BC Children’s Hospital, BC Women’s Hospital, and UBC.

Dr. Larry Lynd is a project leader, along with researchers from BCPHSA, McGill University, and UBC on one of ten successfully funded projects at UBC. Their project will examine the issues and barriers to expanding public access to genetic counsellors as the use of health-related genome sequencing increases in Canada.

For more information, visit the Genome Canada website here.