Grant: Project Grant

Genetic testing for BRCA1 and BRCA2 is increasingly performed after a breast or ovarian cancer diagnosis, to inform cancer treatment decisions. However, a primary goal of genetic testing is to identify individuals before cancer develops and reduce the risk of cancer ever developing. Individuals at the highest risk of having a BRCA1 or BRCA2 mutation are family members of an individual who has been identified with a mutation. Cascade testing is the systematic process of providing genetic counselling and testing for at-risk blood relatives after a germline mutation is identified in a family member. Unfortunately, uptake of cascade testing is low; less than 40% of at-risk relatives are tested. This is a missed opportunity to identify individuals with the highest known risks of developing breast and ovarian cancers. Low uptake has been attributed to the fact that patients bear the primary responsibility of notifying and engaging their relatives about cascade testing due to privacy regulations. There is a great need to develop effective approaches to close the gap in cascade testing. Digital platforms are being used in other genetics applications, however, there are currently no cascade testing platforms that have been shown to be effective in increasing cascade testing. In the current study, we will develop and pilot test a digital cascade testing platform. The aims of the study are: 1) To explore the needs and preferences of probands, relatives, and health professionals in relation to a digital tool to facilitate the uptake of cascade genetic testing; 2) To co-design and usability test a digital tool to facilitate cascade testing; and 3) to evaluate the feasibility and acceptability of the digital tool. This will provide the necessary evidence to inform a large randomized controlled trial, leading to an effective resource for patients and their families to increase the identification of individuals at a very high-risk of developing cancer.