USPSTF Updates its Recommendations on Genetic Testing for BRCA Related Cancers: What it Means For You

By Nicole Choy

The United States Preventive Services Task Force (USPSTF) released a new recommendation statement regarding risk assessment, genetic counseling, and genetic testing for breast cancer last week, updating their previous recommendations which were last published in 2014. These updated recommendations were based on a review of over 100 different studies evaluating the effectiveness of risk assessment, genetic counseling, and genetic testing in reducing the incidence of breast and ovarian cancers for women. The review yielded two recommendations for women relating to breast and ovarian cancers. 

The summary of evidence suggested that women who have a personal or family history associated with an increased risk for harmful mutations in the BRCA genes benefited from receiving risk assessments incorporated into routine medical practice, such as collecting a personal or family medical history or using a brief risk assessment tool or survey. If the assessment suggests that a woman may be at an increased risk for a BRCA mutation, genetic counseling is recommended to determine if the individual is a good candidate for genetic testing for the BRCA genes. This is a Grade B recommendation which suggests that this practice has a moderate to substantial benefit and should be offered by healthcare providers. 

The second recommendation states that, based on evidence that is currently available, women with a personal or family history that is not associated with an increased risk for harmful mutations in the BRCA genes should not receive routine risk assessment, genetic counseling, and genetic testing. This recommendation is considered Grade D: testing of these individuals is discouraged by the USPSTF as they see no net benefit or that harms outweigh the benefits.

In comparison to the recommendations published in 2014, the recommendation remains consistent such that women who have a family history of breast and ovarian cancer stand to benefit from risk assessment, genetic counseling, and genetic testing. Where the current recommendations differ is the inclusion of women with a personal history of breast and ovarian cancer, in addition to a family history. However, it should be noted that these guidelines do not address the risk for men to carry BRCA mutations, despite the fact that men and women are equally as likely to carry a BRCA mutation. . In fact, many guidelines and recommendations overlook the risks of BRCA mutations in men. 

I have a personal or family history of breast or ovarian cancer—what does this mean for me?

Even USPSTF (still) thinks that your primary care physician should be addressing this history and, when appropriate, referring you to genetic counseling for consideration of BRCA testing. A referral to genetic counseling does not mean that you have to have testing done. The purpose of genetic counseling is to give you a better understanding of the risks, benefits, and limitations of testing. 

I’m Ashkenazi Jewish. Does that change anything? 

Yes! Ancestry is an important part of a risk assessment because BRCA mutations are much more common in individuals of Ashkenazi Jewish ancestry. About 1 in 40 individuals (males and females) of Ashkenazi Jewish ancestry carries a BRCA mutation (v. 1/200 – 1/500 in the general population). Given that the prior probability that someone of Ashkenazi Jewish ancestry is a carrier is so high, less personal or family history is needed for a reasonable chance of to test positive for a BRCA mutation. 

I do not have a personal or family history of breast or ovarian cancer—what does this mean for me?

While the USPSTF recommendations are based on a review of available evidence, it should be noted that recommendations from the USPSTF are more conservative than those of other organizations. 

Earlier this year the American Society of Breast Surgeons (ASBS) updated its guidelines to state that all individuals with a personal diagnosis of breast cancer should have access to genetic testing. 

Last year, the National Comprehensive Cancer Network (NCCN) guidelines were also expanded. Notably, NCCN Guidelines also recommend genetic counseling and consideration of testing for men with aggressive prostate cancer and for individuals with a personal or family history of pancreatic cancer. If you have no personal or family history of breast or ovarian cancer but your uncle died of pancreatic cancer—you still meet NCCN guidelines for BRCA testing. A closer evaluation of your family history would be helpful to assess how likely it would be that a BRCA mutation would be found if you did testing. 

While guidelines are meant to help inform the practice of healthcare providers, ultimately, an individual’s healthcare management should be a collaborative discussion between the patient and their healthcare providers. If you are interested in genetic testing, regardless of your personal or family history, speaking with a genetic counselor is an important step. Genetic counselors are specifically trained to evaluate a patient’s personal and family medical history. A genetic counselor can help you understand how likely it is that you would be found to carry a BRCA mutation, whether testing of additional genes should be considered, and also whether testing a different person in the family might be an ideal starting point. 

If you have questions about your personal or family medical history, or want to know if you may be a good candidate for genetic testing, you can schedule an appointment with a genetic counselor here!

I’m a healthcare provider and I don’t have a genetic counselor to refer to!

Grey Genetics contracts with practices to provide genetic counseling services. You can learn more here and also send us an email to set up a complimentary call to discuss your practice needs. 

Further Reading & Resources

“BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing.” US Preventive Services Task Force. Published: August 2019.

US Preventive Services Task Force. “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement”. JAMA. 20 Aug 2019.

Nelson HD, Pappas M, Cantor A, Haney E, Holmes R. “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.” JAMA. 20 Aug 2019

“Grade Definitions.” US Preventive Services Task Force. Updated: June 2018.

Thompson, P. “ASBS Recommends Genetic Testing For ALL Women Diagnosed with Breast Cancer.” Grey Genetics. 4 May 2019.

Griffith, E. “NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer.” Grey Genetics. 13 Jul 2018. 

Scott, S. “Guidelines Miss Hereditary Cancer in Men.” Grey Genetics. 18 Jun 2019.