A lot has changed since the BRCA genes were discovered in the early 1990s. Mutations in BRCA1 and BRCA2 — short for breast cancer genes 1 and 2 — were the first specific genetic changes linked to cancers that run in families. These include breast cancer and ovarian cancer in women, prostate cancer and breast cancer in men, and pancreatic cancer in both men and women. Today, genetic testing for mutations in the BRCA1 and BRCA2 genes is more available and affordable than ever before.
Knowing a person’s BRCA1 or BCRA2 mutation status can help guide treatment decisions. It can also raise a red flag about the risk for developing additional cancers. Family members may consider testing as well, to see if they too have an increased cancer risk.
So when an April 2019 study in the Journal of Clinical Oncology showed that only about a quarter of women with breast cancer and a third of women with ovarian cancer in Georgia and California had received BRCA testing, it raised eyebrows in the cancer community.
Genetic Testing at MSK
“The rates of genetic testing observed in this study were eye-opening to the cancer genetics and oncology community. Testing rates were much lower than expected,” says Zsofia Stadler, Clinical Director of MSK’s Clinical Genetics Service. “Importantly, the study uncovered both racial and socioeconomic disparities in genetic testing rates among women with ovarian cancer. For example, testing rates were far lower for black women than white women. They were also lower for uninsured than insured patients.”
Testing is important because certain targeted drugs may be effective against cancers driven by BRCA mutations.
“With the US Food and Drug Administration’s approval of a class of drugs called PARP inhibitors in both BRCA-associated advanced breast and ovarian cancers, we now know that women with these cancers can benefit from these targeted therapies,” Dr. Stadler says. “Moreover, having a germline BRCA1 or BRCA2 mutation increases the risk of a second cancer, which could be prevented with appropriate enhanced screening or risk-reducing surgery.” (Germline mutations are inherited at birth.)
Women who know they have these mutations may decide to undergo more extensive surgery, for example. This might include the removal of the unaffected ovary or breast.
Experts at MSK say that the study’s low numbers highlight the need for better education among healthcare providers and the general public about the importance of genetic testing and genetic counseling.
However, the numbers seen in this study are not representative of what happens at MSK, says Angela Arnold Ross, a senior genetic counselor at MSK Bergen. Since 2008, every woman who has come to MSK for ovarian cancer surgery or treatment has been offered genetic testing. For women with breast cancer, MSK follows the guidelines laid out by the National Comprehensive Cancer Network to determine who would most benefit from genetic testing. Because breast cancer is a more common disease, the guidelines for who should be offered genetic testing are stricter.
Obstacles to Testing
The study’s authors noted that obstacles to genetic testing may have influenced low testing rates. These include lack of access to genetic testing, the cost of testing, and insurance coverage. Ms. Arnold Ross says that these can be roadblocks for people deciding to get tested no matter where they live. But strides have been made to make testing more accessible.
“These challenges happen everywhere,” she adds. “Out-of-pocket costs can vary, but the cost of genetic testing itself has gone down over the years as the technology has improved and the number of labs competing to run these tests has increased. This is due to peer-reviewed articles documenting the importance of genetic testing for certain people.”
Insurance coverage for genetic tests can also vary, but more and more insurers, including Medicare, are now covering or partially covering this testing. Financial assistance can help ease some of the burden. At MSK, financial assistance is available for people who have genetic testing.
MSK also offers genetic counseling and testing for families that may be at risk. “When a woman has genetic testing and learns that she carries one of these mutations, it can be life-saving for her relatives as well,” Dr. Stadler says. “If they also test positive, they can greatly benefit from enhanced screening and prevention measures.”