BRCA Testing Shifts From Cancer Patients to Unaffected Women Interview with:

Fangjian Guo, MD, PhD Department of Obstetrics and Gynecology Center for Interdisciplinary Research in Women’s Health University of Texas Medical Branch Galveston TX

Dr. Fangjian Guo

Fangjian Guo, MD, PhD
Department of Obstetrics and Gynecology
Center for Interdisciplinary Research in Women’s Health
University of Texas Medical Branch
Galveston TX What is the background for this study? What are the main findings?

Response: BRCA testing in patients diagnosed with early-onset breast or ovarian cancer can identify women with high-risk mutations, which can guide treatment. Women who learn they have a high-risk mutation may also want to inform family members that they may also carry a high-risk mutation.

Additionally, BRCA testing can be used to identify high-risk mutation carriers before they develop breast or ovarian cancer. Carriers can then manage their cancer risks with screening (MRI/mammogram), chemoprevention, or prophylactic surgery. Current guidelines recommend BRCA testing for individuals who are considered high-risk for breast or ovarian cancer based on personal or family history.  However, this practice fails to identify most BRCA mutation carriers. It is estimated that more than 90% of mutation carriers have not been identified. One of the issues is that many women who do get tested are actually low-risk and do not have any personal or family history of breast or ovarian cancer.

This study assessed how BRCA testing was used in the US health care system during the past decade. We found that in 2004 most of the tests (75.7%) were performed in patients who had been diagnosed with breast or ovarian cancer. Only 24.3% of tests were performed in unaffected women. However, since 2006, the proportion of BRCA tests performed in unaffected women has increased sharply, with over 60% of the tests performed in unaffected women in 2014. What should readers take away from your report?

Response: From 2004 to 2014, BRCA testing in the U.S. shifted from being used primarily in breast and ovarian cancer patients to being used in unaffected women who do not have breast or ovarian cancer. Over the past decade, widespread direct-to-consumer marketing for genetic tests has raised consumers’ interest in BRCA testing, and increased women’s self-referrals and physician referrals to genetic services even when they are at low-risk for mutations. This may be the driving force for the shift in the usage of BRCA testing during last decade. However, this may not necessarily translate into a great improvement in identifying mutation carriers, as many of the tests are performed in women who do not carry harmful BRCA mutations. Policymakers may need to take this into consideration to promote proper use of the test and maximize the detection of mutation carriers. What recommendations do you have for future research as a result of this study?

Response: New genetic sequencing technologies are dramatically reducing costs for genetic testing and sequencing. However, current guidelines and clinical practice fail to efficiently identify women who carry harmful BRCA mutations. Effective testing strategies need to be identified that promote equitable distribution and rational use of BRCA testing and maximize the detection of mutation carriers. Is there anything else you would like to add?

Response: This study was supported in part by the Building Interdisciplinary Research Careers in Women’s Health Program (BIRCWH, K12HD052023) from the Office of Research on Women’s Health and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) and the National Research Service Award (T32HD055163) from the NICHD at the NIH. Thank you for your contribution to the community.


Use of BRCA Mutation Test in the U.S., 2004–2014

Fangjian Guo, MD, PhD , Jacqueline M. Hirth, PhD, MPH, Yu-li Lin, MS, Gwyn Richardson, MD, Lyuba Levine, MD, MMSci, Abbey B. Berenson, MD, PhD, Yong-Fang Kuo, PhD

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

More Medical Research Interviews on

[wysija_form id=”5″]

Last Updated on March 24, 2017 by Marie Benz MD FAAD