BC Cancer BRCA1/BRCA2 screening initiative for early identification of cancer risk in the Ashkenazi Jewish community

Article Highlights

·        1 in 40 people of Ashkenazi Jewish heritage carry BRCA1 or BRCA2 mutations, which can increase the risk of certain cancers.

·        In British Columbia, increased access to genetic testing is needed to better identify carriers of BRCA1/BRCA2 and other cancer gene mutations in the Ashkenazi Jewish community.

·        A new program, supported by the Diamond Family Foundation, aims to provide testing for people with Jewish heritage without the requirement of family cancer history.

·        The program includes online education and follow-up with genetic counsellors for families identified to have a BRCA1, BRCA2 or other gene mutation.

·        The pilot study will determine the effectiveness of this approach in British Columbia.

Background 

Globally, 1 in 40 people with Ashkenazi Jewish heritage are known to carry either a mutation in the BRCA1 or BRCA2 gene. With approximately 35,000 people with Ashkenazi Jewish ancestry – and likely many more who are not aware of their Jewish heritage – currently living in British Columbia, there is a need for increased access to genetic testing to help identify those carrying BRCA1/BRCA2 and other cancer gene mutations. Identifying individuals with cancer gene mutations is important because they are eligible for increased cancer screening and prevention options which can help detect cancer earlier or prevent it.

Previous research shows that more than half of BRCA1/BRCA2 mutation carriers in the Jewish population do not have a suggestive family history of cancer (Cousens et al., 2021). Current screening criteria in BC would not identify these individuals. Families with limited access to family history, smaller families and families with more biological males than females all face barriers to accessing genetic testing for BRCA1/BRCA2 and other cancer genes.

Streamlined genetic testing is an approach that focuses on population screening access rather than limiting testing to just those with an indicative family history. It is considered a safe and accessible alternative to traditional screening criteria. Studies have also demonstrated that population genetic screening can more efficiently identify BRCA1 and BRCA2 mutations in Ashkenazi Jewish communities (Manchanda et al., 2014).

With a generous grant from the Diamond Family Foundation, BRCAinBC and the BC Cancer Hereditary Cancer Program are collaborating to introduce an expanded genetic testing program for the Ashkenazi Jewish community in British Columbia and Yukon using a streamlined approach that does not require family cancer history information to qualify. The program was initially announced in the Spring of 2023 and featured in a CBC article.

In the current pilot program, this approach will use online patient education modules before testing and follow-up interactions with genetic counsellors if a mutation is found. While there may be concerns about replacing health provider interactions with online education tools, studies show that streamlined genetic testing has overall satisfaction rates similar to those who underwent traditional genetic testing models (Lieberman et al., 2017). The program will help determine if streamlined genetic testing works effectively in the Ashkenazi Jewish population here in BC and is a model that could be expanded in the future.

Program Overview: What is Involved

Participants who volunteer for the program will first learn about genetic mutations and their associated risks using online patient education tools. Following this educational orientation, if a participant consents to genetic testing, they will provide a saliva sample. If a participant is positive for a genetic mutation, they will be referred to a genetic counsellor to help them understand their results and steps to move forward. With the support of the genetic counsellor and the Hereditary Cancer Program, the participants will receive support and education to help navigate their newly diagnosed mutation, including receiving all necessary referrals and follow-up care. 

Initial Roll Out

The study is being rolled out in phases and will initially be open to 30-50 individuals, as tools are tested and modified. Intake will then increase gradually over time, with the goal to ultimately test 1000 people with Jewish ancestry across British Columbia.

The program is now fully released and open to the public.

Program Outcomes 

This program will help the BC Cancer Hereditary Cancer Program better understand the prevalence of genetic mutations in the Ashkenazi Jewish population here in British Columbia and the merits of testing for BRCA1/BRCA2 without the requirement of family cancer history. The program will also provide insights into the most appropriate model for program delivery and the opportunity for expanded genetic testing to a high-risk population.

Participation

Interested in getting tested and joining the program? Learn more here.

References 

1. Cousens, N. E., Tiller, J., Meiser, B., Barlow-Stewart, K., Rowley, S., Ko, Y.-A., Mahale, S., Campbell, I. G., Kaur, R., Bankier, A., Burnett, L., Jacobs, C., James, P. A., Trainer, A., Neil, S., Delatycki, M. B., & Andrews, L. (2021). Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: A protocol paper. BMJ Open, 11(6), e041186. https://doi.org/10.1136/bmjopen-2020-041186

2. Lieberman, S., Tomer, A., Ben-Chetrit, A., Olsha, O., Strano, S., Beeri, R., Koka, S., Fridman, H., Djemal, K., Glick, I., Zalut, T., Segev, S., Sklair, M., Kaufman, B., Lahad, A., Raz, A., & Levy-Lahad, E. (2017). Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: Proactive recruitment compared with self-referral. Genetics in Medicine, 19(7), 754-762. https://doi.org/10.1038/gim.2016.182

3. Manchanda, R., Legood, R., Burnell, M., McGuire, A., Raikou, M., Loggenberg, K., Wardle, J., Sanderson, S., Gessler, S., Side, L., Balogun, N., Desai, R., Kumar, A., Dorkins, H., Wallis, Y., Chapman, C., Taylor, R., Jacobs, C., Tomlinson, I., ... Jacobs, I. (2014). Cost-effectiveness of population screening for BRCA mutations in Ashkenazi Jewish women compared with family history–based testing. JNCI: Journal of the National Cancer Institute, 107(1). https://doi.org/10.1093/jnci/dju380