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

Genome-wide sequencing (GWS; whole genome or exome sequencing) is a powerful new genetic test that analyzes a person’s entire genetic make-up. While valuable, it can be problematic, by revealing disorders or disease risk factors unrelated to the original reason for testing, or by generating complex findings that are difficult for non-expert health providers to interpret. While not currently routinely available, genome-wide sequencing will soon be in more widespread use for patients who need it – increasing demand for genetic counselling, to which access is already limited in Canada.

Genetic counsellors provide education and emotional and decisional support to patients and families, helping them to make informed decisions about genetic testing and its results. Because of lack of legal recognition of genetic counsellors in Canada, most of them are found in academic centres rather than in the community.

GenCOUNSEL, which brings together experts in genetic counselling, genomics, ethics, health services implementation and health economics research, is the first project to examine the genetic counselling issues associated with clinical implementation of GWS. It will determine the most efficient socio-economic, clinical, legal and economic methods of providing genetic counselling once GWS is available in the clinic. It will create an understanding of current and future needs for genetic counselling, develop best practices for the delivery of genetic counselling, improve access to the counselling, particularly for underserved patient populations, and study the feasibility of different models of legal recognition of genetic counsellors. The result will be increased access, patient satisfaction and cost-efficiency while helping to make genetic counselling available to all Canadians who need it.