Facilitating Cascade Genetic Testing Study

Genetic testing for cancer predisposition genes, including BRCA1 and BRCA2, has been available in clinical practice for over 25 years. Individuals with a BRCA1 or BRCA2 mutation have up to an 87% risk of developing breast cancer, 60% risk of ovarian cancer, and increased risks for pancreatic cancer, prostate cancer, and male breast cancer. Once an individual is identified with a BRCA mutation, genetic testing can be offered to their relatives, where efforts can be targeted at reducing their cancer risks. Testing at-risk family members of a BRCA mutation carrier is referred to as cascade testing. Relatives of a known BRCA mutation carrier have the highest known risks of developing cancer. However, less than 30% of first-degree relatives of BRCA carriers have had genetic testing, and even fewer second- and third-degree relatives. We urgently need to increase rates of cascade testing in relatives of known BRCA mutation carriers.

Digital tools have been developed to support healthcare services, including providing patient education, counselling, and decision support. Overall, digital genetics tools have been well received by patients, with high levels of usability, acceptability and satisfaction reported. These digital tools have been shown to improve patient-reported outcomes, including increasing knowledge, reducing decisional conflict, initiating active-decision making and facilitating patient-centered care.

The goal of this study is to develop and pilot test a patient-centered digital tool for cascade testing for BRCA1 and BRCA2 carriers (called probands) and their relatives. This will provide the necessary evidence to inform a large randomized controlled trial, leading to a much-needed resource for patients and their families to increase the identification of individuals at a very high-risk of developing cancer.

You are eligible to participate in this study if you meet all of the following criteria.

Probands:

  • You are an adult (over 18 years old)
  • You have a known BRCA1 or BRCA2 pathogenic or likely pathogenic mutation
  • You are the first person in your family to be diagnosed with a BRCA1 or BRCA2 mutation
  • You have accessed genetics services (i.e. genetic counselling, genetic testing) in the past 5 years
  • You can read and understand English
  • You reside in Canada

Relatives:

  • You are an adult (over 18 years old)
  • You are a relative of an individual who has been identified as a BRCA1 or BRCA2 pathogenic or likely pathogenic mutation carrier
  • You can read and understand English
  • You reside in Canada

Providers: 

  • You currently provide care in a genetics clinic in Canada (including physicians, genetic counsellors, nurses, etc.).

All study activities can be completed at home. If you choose to participate, you will be asked to:

  • Complete a consent form indicating your willingness to participate
  • Provide your contact information
  • Complete a short, online survey to obtain your demographic information and understand your experiences with genetics services
  • Participate in a virtual interview that will explore your needs and preferences for a digital tool to facilitate the uptake of cascade testing.

If you are interested in participating or learning more about the Cascade Study, please contact the study team by emailing cascadestudy@wchospital.ca or calling 416-323-6400 x2749.