For patients with rare, unexplained disorders and their families, genome-wide sequencing (GWS; exome and whole genome) can provide much-needed answers but it can also raise a lot of questions.
Families need clinical expertise and emotional support to make informed decisions. The families we support are the center focus of our research. Our project, GenCOUNSEL, brings together international experts to determine the best methods for providing genetic counselling and ensure all Canadians have access to this specialized expertise and support.
Genome-wide sequencing (GWS) is a powerful new genetic test that analyzes a person’s entire genetic make-up. 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 non-expert health providers to interpret. While not currently routinely available, GWS 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 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. Factors such as cost of time and travel, language and cultural barriers exist for many Canadians when accessing genetic counselling. Furthermore, the lack of legal recognition of genetic counsellors in Canada means they work primarily in clinical genetics units at academic centers, rather than in the community.
GenCOUNSEL, which brings together experts in genetic counselling, genomics, ethics, health services implementation and health economics, is the first project to examine the genetic counselling issues associated with clinical implementation of GWS. It 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 (Activity 1-Profession)
- Investigate and develop best practices for delivery of genetic counselling (Activity 2-Programs)
- Improve access to genetic counselling, especially for underserved patient populations (Activity 3-Practice)
- Develop a framework for the legal recognition of genetic counsellors (Activity 4-Policy)