Should all women be tested for BRCA mutations?

Women who know they have BRCA1 or BRCA2 gene mutations that puts them at higher risk for breast and ovarian cancers can get earlier or more frequent screenings, and even take other steps to be proactive about their health.

But, does this mean all women need to be screened for these mutations? According to University of California Los Angeles researchers, that might not always be the case.

In an issue of JAMA Oncology, two researchers from UCLA argue that expanding screening beyond women with a family history doesn’t make sense, given the high cost of screening and relatively low number of women with BRCA mutations. The U.S. Preventive Services Task Force recommendation also supports screening for only women with a family history of breast, ovarian and related cancers.

“It’s like looking for a needle in a haystack,” UCLA researcher Dr. Elisa Long said in a news release. “If only one in 400 women across the country have one or both of the BRCA1 or BRCA2 mutations, universal screening would cost $1 million to $2 million to detect a single BRCA mutation, or nearly $400 billion to screen all women in the U.S. Perhaps this money could be better spent on other diagnostic tools for young women, such as MRIs, to have the greatest impact.”

The most commonly used genetic test for BRCA mutations costs about $4,000, but as other lower-cost testing options enter the market, it may become more practical to expand screening. Still, the researchers questioned whether it would be possible to provide personalized genetic counseling on a universal level.

“Receiving genetic counseling prior to genetic testing — by a health care specialist trained in genetics — is important to assist individuals in making decisions about the pros and cons of genetic testing,” says Melody Perpich, a genetic counselor at the Creticos Cancer Center at Advocate Illinois Masonic Medical Center in Chicago. “Furthermore, even if someone tests negative, they may still be at increased risk for cancer. Genetic counselors can discuss appropriate risk management strategies based on personal and/or family history of cancer.”

In addition, identifying the correct individual to test is key, Perpich says. For example, if one woman in a family was diagnosed with breast cancer before age 50, it may make sense to test her first to see if she has a gene mutation.

“Once a mutation has been identified in the family, the cost of testing other relatives is less than $400 since you are testing only for the familial mutation,” Perpich explains.

The UCLA researchers support across-the-board screening for certain high-risk populations, such as Ashkenazi Jewish women, who have about a one in 50 chance of having a BRCA mutation. Study leaders said screening for that population could help avoid about 62 breast cancers and 34 ovarian cancers for every 10,000 women tested.

One in 8 women will develop breast cancer in her lifetime. Inherited gene mutations only account for about 5 to 10 percent of all breast cancers, according to the National Cancer Institute, so most women who develop breast cancer do not have a mutation.

To learn more about breast health, please visit Stories of the Girls.