Direct to consumer BRCA tests offer promise, deliver pitfalls

The Norton & Elaine Sarnoff Center for Jewish Genetics issued a statement from its Board of Directors to help educate our community about BRCA mutations and genetic testing.

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On March 6, after a lengthy examination process, the U.S. Food and Drug Administration (FDA) granted approval to consumer genetic testing company 23andMe to include information about a small number of BRCA1 and BRCA2 mutations in its reports to customers.

Mutations in these genes increase lifetime cancer risk for breast cancer in women and in men, ovarian cancer, prostate cancer, and certain types of pancreatic cancer and melanoma. The mutations included in 23andMe's test are most commonly found among Ashkenazi Jews.

Many in the medical and scientific establishments have issued cautionary responses urging consumers to understand the limitations of such testing and to consider traditional clinical pathways instead. For an individual, learning that she or he has one of these mutations can be life-changing. Some BRCA-positive individuals opt for careful surveillance, while others choose a path of radical surgery which reduces cancer risk, but is not without risks of its own.

The Norton & Elaine Sarnoff Center for Jewish Genetics issued a statement from its Board of Directors to help educate our community about these critical issues. As important as these cautions are for all consumers, the fact that the newly approved test targets mutations more common among Jews demands that we provide our community with the information individuals need to understand their options and make informed decisions.

Our statement highlights four key issues for people to understand when considering direct-to-consumer testing, or taking action based on results, whether positive or negative.

1.      The results given by these tests are extremely limited and potentially misleading. The three mutations identified in 23andMe's test represent only a small fraction of more than 1,000 known cancer-related mutations in theBRCA1/BRCA2genes. Additionally, this test does not provide any information about mutations in other genes that can dramatically increase a person's cancer risk. Individuals with a significant personal or family history of cancer should consult with a genetic counselor or healthcare provider about more comprehensive testing options, as a negative 23andMe result does not eliminate the possibility of a different genetic mutation.

2.      Those who receive positive test results without assistance from a genetic counselor or qualified physician are not likely to have adequate preparation to understand their risk or evaluate appropriate preventative measures.

3.      Those who receive negative test results may not understand their remaining risks for hereditary or non-hereditary cancer. Only about 10 percent of cancers are directly linked to mutations such as those found in the BRCA1/BRCA2 genes. Some cancer is familial, but most cancer (about 70 percent) is sporadic, with no directly traceable genetic or familial component. A negative test result alone says very little about an individual's ultimate risk for cancer.

4.      In almost all cases, physicians and genetic counselors who see patients regarding direct-to-consumer (DTC) test results will and should recommend that patients get more comprehensive testing.

For individuals who have concerns about their hereditary cancer risk, we recommend:

  • Meeting with a genetic counselor, or with a physician or health care provider involved with cancer treatment and prevention.
  • Discussing with that professional your personal and family history of breast, ovarian, and other cancers, what testing results can and cannot reveal, and the options that exist if a test reveals a mutation that increases risk for cancer.

The Norton & Elaine Sarnoff Center for Jewish Genetics offers a wealth of resources for people who want to learn more about their risk and options for testing, prevention, and early detection. These resources include community access to a genetic counselor who is available to speak with concerned community members, provide education, answer questions, and direct individuals to appropriate clinical resources.

On Thursday, June 21, the Center will also host a community education event, What's Jewish About BRCA? , featuring Dr. Susan Domchek of the Basser Center for BRCA. To learn more about this event, and to read the full statement from our Board of Directors, visit JewishGenetics.org.

Jason Rothstein, MPH, is the director of the Norton & Elaine Sarnoff Center for Jewish Genetics.

 




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