More Women Should Be Considered for BRCA Testing, Task Force Says

According to a recent recommendation statement by the U.S. Preventive Services Task Force, more women should be considered for genetic testing to identify mutations in the genes known as BRCA1 and BRCA2. These mutations, which can be inherited from either your mother or father, prevent cells from repairing themselves, leading to cancer. In women, BRCA 1 and BRCA 2 mutations are known to increase the risk of developing breast and ovarian cancer. In men, they are associated with an increased risk of prostate and breast cancer, as well as pancreatic cancer and melanoma skin cancer.

In the past, the USPSTF has recommended physicians estimate the risks of women with a family history of breast and ovarian cancer for carrying a genetic mutation, and consider referring them for counseling and testing if it seems appropriate. The 2019 statement expands that recommendation to include (1) women with a personal history of these cancers and (2) women of Ashkenazi Jewish (Eastern European) ancestry. It does not make recommendations for BRCA testing in men.

The recommendation statement was published in the August 20, 2019 issue of the Journal of the American Medical Association as “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.”

Background

The U.S. Preventive Services Task Force is an independent, volunteer panel of national experts in prevention and evidence-based medicine. The task force makes recommendations about the value of services such as preventive screening tests, counseling services, and medicines. The goal is to help guide primary care providers and their patients decide which preventive services a person may need or want to try to avoid developing different diseases during their lifetime.

In 2013, the USPSTF recommended that physicians assess whether women with a family history of breast or ovarian cancer showed signs of carrying a gene mutation related to cancer and, based on the results, whether they should consider testing for BRCA1 and BRCA2 mutations. BRCA1 and BRCA2 are responsible for about 5 to 10 percent of breast cancers and about 15 percent of ovarian cancers. In the general population, about 1 in every 300 to 500 women has a BRCA1/2 mutation. The incidence is much higher for women of Ashkenazi Jewish ancestry — about 1 in 40.

If you test positive for a BRCA1 or BRCA2 mutation, you and your doctor can use this information — along with details of your family history — to make decisions about ways to try to prevent cancer or diagnose it early. This can include more frequent screening tests, surgery to remove the breasts or ovaries, or medicines.

New recommendations in 2019

To create the 2019 recommendation statement, the USPSTF reviewed findings from research that studied risk assessment, genetic testing, and actions taken to reduce the risk of developing breast or ovarian cancer. Based on that review, the USPSTF now recommends that women have their risk for a possible BRCA1 or BRCA2 mutation assessed if they:

• have a family history of breast, ovarian, fallopian tube, or peritoneal cancer, a type of cancer found in the lining of the abdominal wall
• have completed treatment for any of the above cancers, but have not had genetic testing in the past
• are of Ashkenazi Jewish ancestry

If any of these three criteria apply, the USPSTF then recommends a three-step process to help you and your care team decide if genetic testing is right for you:

1. A primary care provider should assess your personal and family cancer history to determine if you’re likely to carry a BRCA gene mutation.

Your doctor will ask for information about your personal and family medical history of certain cancers, as well as whether your family has Ashkenazi Jewish ancestry. The USPSTF recommends these assessment questionnaires:

• Tyrer-Cuzick Tool
• Ontario Family History Assessment Tool
• Manchester Scoring System
• Referral Screening Tool
• Pedigree Assessment Tool
• 7-Question Family History Screening Tool
• brief versions of BRCAPRO

2. If the family risk assessment suggests you may carry a BRCA mutation, your care provider should refer you to a genetic counselor.

A genetic counselor is trained to help you understand the role of genetics in disease, build a more complete family history, see disease patterns in the family, and talk through the benefits and risks of genetic testing. After genetic test results come back, a genetic counselor can explain possible next steps to take.

3. After meeting with a genetic counselor, you decide whether to have genetic testing.

It’s possible that after talking through the process and what results may mean that you won’t want genetic testing — and that’s OK. This three-step process should help you decide what’s right for you.

The recommendations do not include mention of other BRCA-related cancers such as prostate cancer, pancreatic cancer, and melanoma. It also does not make recommendations for people living with stage IV, metastatic breast cancer.

Reaction from experts

Many breast cancer experts applauded the recommendation because it widens the pool of women who should be considered for genetic testing. Private insurers tend to follow USPSTF recommendations, so the costs of genetic counseling and genetic testing are more likely to be covered.

But some experts felt the recommendation did not go far enough. In a response published in the same issue of JAMA, Susan Domchek, MD, executive director of the Basser Center for BRCA at Abramson Cancer Center, and Mark Robson, MD, chief of the Breast Medicine Service at Memorial Sloan Kettering Cancer Center, expressed concerns that the recommendations did not include women newly diagnosed with breast cancer. A positive BRCA1 or BRCA2 result can often influence decisions about surgery — choosing to have mastectomy instead of lumpectomy, for example — and chemotherapy.

The statement also does not include women with metastatic breast cancer, even though a BRCA mutation might make a type of targeted therapy called a PARP inhibitor available.

What this means for you

These updated USPSTF recommendations may make you a candidate for genetic testing if you weren’t before. If you feel your family or personal history of cancer or ethnic background fits the new guidelines, talk to your care team about the USPSTF recommendations. You can work together to figure out if you have signs of carrying a BRCA mutation. If so, they can refer you to a genetic counselor.

If you had BRCA testing before 2014 and tested negative, but your history suggests a mutation could be present, talk to your doctor. Research has found more mutations related to breast cancer, in the BRCA genes as well as other genes. Retesting might give some insight into your diagnosis.

US Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652–665. doi:https://doi.org/10.1001/jama.2019.10987