Thursday, January 2, 2014

U.S. Preventive Services Task Force Finds Benefit in Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer for Small Group of High-Risk Women

WASHINGTON, D.C. – December 24, 2013 – The U.S. Preventive Services Task Force (Task Force) today published its final recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. The Task Force recommends that women with family members who have had breast, ovarian, tubal, or peritoneal cancer talk with a health care professional to learn if their history might put them at risk for carrying a BRCA mutation. Women who screen positive should receive genetic counseling and, if indicated after counseling, BRCA testing. Additionally, for the vast majority of American women (90 percent), who do not have a family history associated with an increased risk for the inherited mutations, the Task Force continues to recommend against genetic counseling and testing.

One important step in preventing BRCA-related cancer is helping women understand their risk. Mutations in the BRCA1 and BRCA2 genes, which are present in 0.2 to 0.3 percent of women, are just one of many factors that can increase a woman’s risk for developing breast and ovarian cancer. Women with these potentially harmful mutations can have up to a five times greater chance of developing breast cancer, and BRCA mutations can also increase a woman’s lifetime risk for ovarian cancer to as high as 40 percent.

“Too many American women and families are faced with the challenge of dealing with cancer diagnosis and treatment. We have great hope in the science of genomics to improve screening practices and even prevent some cancers,” says Task Force chair Virginia Moyer, M.D., M.P.H. “At this point, the evidence shows that most American women will not benefit from genetic counseling or the test for gene mutations in BRCA1 and BRCA2. For women who have a family history that might be associated with an increased risk for these mutations, we found that some may benefit from in-depth genetic counseling that thoroughly reviews their family history and, if indicated and after weighing the pros and cons of BRCA testing, receiving the test.”

Current tests work best for women at a high risk for developing cancer, but the test alone does not always provide a definitive answer. There are some harms of testing; results are often inconclusive and many women could be burdened with the uncertainty of whether they are—or are not—at an increased risk for cancer. Inconclusive genetic testing leads many women to choose to take powerful medications or undergo major surgery to reduce their risk for developing cancer. Unfortunately, most will not benefit from these interventions and may needlessly suffer great harm, especially because they were never at increased risk to begin with. Therefore, the Task Force continues to recommend against routine genetic counseling and BRCA testing in women without a strong family history of cancer.

“Evidence still shows that there are serious, negative consequences that could result from testing women who are at low risk for BRCA mutations. The BRCA test works best for women who have reviewed their family history of breast or ovarian cancer and the pros and cons of the screening test with a trained professional,” says Dr. Moyer. “We hope further research will improve the ways genomic science can help women and their doctors understand their risk for cancer.”

The Task Force’s final recommendation statement is published online in Annals of Internal Medicine, as well as on the Task Force Web site at A fact sheet that explains the recommendation statement in plain language is also available. A draft version of this recommendation was available for public comment in April 2013.

The Task Force is an independent, volunteer panel of national experts in prevention and evidence-based medicine that works to improve the health of all Americans by making evidence-based recommendations about clinical preventive services such as screenings, counseling services, and preventive medications.

Contact: Ana Fullmer at / (202) 350-6668

Click here to read the original bulletin by The U.S. Preventive Services Task Force