BRCA Genetic Testing: Past, Present, and Future

1 out of every 40 Ashkenazi Jews carry the BRCA gene. What are we doing about it?

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There have been significant improvements in the last quarter century related to how we identify and treat inherited cancer risk associated with BRCA mutations.

Twenty-four years ago the BRCA genes were discovered. Ten years ago, legislation was passed to prevent genetic discrimination by health insurance or employers. Five years ago, Angelina Jolie shared her personal journey of learning that she carries a BRCA gene mutation with The New York Times.

So, where are we now—and where are we going?

Watch JOFA’s Webinar on the BRCA Founder Outreach Study!

Well, we’ve established a lot of the important science:

  • BRCA genes, BRCA1 and BRCA2, are the most common hereditary causes of breast and ovarian cancer.
  • There are also cancer risks for men who carry BRCA mutations: prostate cancer and a small risk of male breast cancer.
  • There is a slightly increased risk of pancreatic cancer for both women and men who carry BRCA
  • BRCA mutations, specifically three “hotspots” in these two genes, called the Ashkenazi Jewish BRCA founder mutations, are found in 1 out of every 40 individuals of Ashkenazi Jewish ancestry.

BRCA mutations are found in 1 out of every 40 individuals of Ashkenazi Jewish ancestry.

We’ve also learned that when genetic testing is provided in consultation with a health care provider such as a genetic counselor, individuals who carry BRCA mutations can take specific and proactive steps in their medical care to manage their cancer risk. These include increased breast screening or a risk-reducing breast surgery, earlier prostate screenings, and removal of the ovaries and fallopian tubes after a woman has completed child-bearing.

Even with these great advances in science and care, over 90% of individuals with Ashkenazi Jewish ancestry who carry a BRCA mutation don’t know they are BRCA+. Why?

One word: access.

Over 90% of individuals with Ashkenazi Jewish ancestry who carry a BRCA mutation don’t know.

If you’ve seen a genetic counselor before, you know that the wait time can be lengthy and that a personal or family history of BRCA-associated cancers is required for insurance coverage of genetic testing. So, providing the test to all Jews with Ashkenazi ancestry, regardless of family history and at no cost, is impactful—especially when it comes with medical guidance.

Without medical guidance, navigating the complex interpretation of genetic information can be misleading and even harmful. Despite the convenience of direct-to-consumer testing, there are individualized recommendations for cancer surveillance that can only be given by a health care provider.

The study that I’m a part of, the BFOR (BRCA Founder OutReach) study combines the convenience of direct-to-consumer genetic tests under the guidance of a trusted medical care provider.

Individuals enroll through an online platform accessible at bforstudy.com. The novel online tool combines a series of videos with an interactive question and answer component to provide the educational content of a genetic counseling session from home.

The BFOR study combines the convenience of direct-to-consumer genetic tests under the guidance of a trusted medical care provider.

After enrolling through the online platform, participants go to a local Quest Laboratory to have their blood drawn. They will have an opportunity for an in-depth conversation with a heath care provider when their test results are returned. This medical expertise is an important part of appropriate recommendations related to “next steps”. For example, even those who test negative may be advised to consider further and more expanded genetic testing if they have a strong personal or family history of cancer.

In addition, the BFOR Study is examining how to engage with healthcare providers other than genetic counselors in the delivery of genetic testing results. Without intervention of some kind, genetic testing won’t be able to offer benefits because there won’t be enough people to interpret the results: There are approximately 300,000 primary care physicians in the U.S., but only around 4,000 genetic counselors. Training doctors is another step towards a future with greater access, and better personalized medical care for us all.

The potential to save lives is clear – and we can work together to make it happen.

My hope is that by broadening the ways in which we think about offering genetic testing, we enable 100% of those who are at risk for carrying a BRCA mutation to make an informed decision about their health care and their future. The potential to save lives is clear – and we can work together to make it happen.

If you are interested in the BFOR study and would like to learn more, please visit bforstudy.com or call 1-833-600-BFOR. To watch JOFA’s webinar on the topic, click here

Kelly Morgan is a genetic counselor at Memorial Sloan Kettering Cancer Center. She graduated from the Icahn School of Medicine at Mount Sinai with a Master’s degree in Genetic Counseling after receiving a Bachelor’s degree in Genetics from the University of Wisconsin-Madison. In her current role, she is a clinical genetic counselor and contributor to the BFOR Study.

Posts are contributed by third parties. The opinions and facts in them are presented solely by the authors and JOFA assumes no responsibility for them.

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