Is mail-order genetic cancer testing for you?
Now that buying a do-it-yourself genetic cancer test, 23andMe®, is as easy as buying a grill or lamp online, will consumers “read the fine print” or expose themselves to undue stress and risk?
Hyannis-based surgeon Kathryn Dalton, DO, FACS, director of breast services for Cape Cod Healthcare, is concerned.
“I would not recommend any of the direct-to-consumer tests that say they can reliably report mutations in cancer genes. The tests are not all-encompassing or trustworthy in my clinical judgment, and patients are not provided with any pre-test counseling. If a patient came to me to review any of the direct-to-consumer test results, I believe the standard of acceptable medical care would require me to re-test them through a proven and experienced genetic testing company,” she said.
“23andMe only looks at three out of more than 1,000 known BRCA gene mutations, which significantly limits the scope. Individuals who receive negative results can still be at risk. These tests can give people false hope that they do not carry BRCA mutations,” she added.
The U.S. Food and Drug Administration (FDA) has some of the same concerns. When the FDA announced its authorization of 23andMe’s direct-to-consumer test that reports three mutations in the BRCA breast cancer genes, they noted many caveats. 23andMe list the same limitations:
- It is the first direct-to-consumer test to report on three specific BRCA1/BRCA2 breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent. These three mutations, however, are not the most common BRCA1/BRCA2 mutations in the general population.
- The test only detects three out of more than 1,000 known BRCA mutations.
- A negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk.
- The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling.
Cape Cod Healthcare’s high-risk breast program at the Cuda Women’s Health Center, has screened more than 20,000 women, tested about 1,000 and identified 90 patients to date with gene mutations that could be cancer-causing, according to Dr. Dalton. These patients benefited from something the direct-to-consumer genetic packages deny buyers – pre-test counseling.
“Prior to genetic testing, patients need informed consent. Patients need to discuss risks, benefits, potential outcomes and life changes before testing,” said Dr. Dalton. “This step, which is supported by the National Cancer Comprehensive Network (NCCN), takes time and personal counseling with a certified genetic counselor or practitioner trained in genetics.”
Genetic Alliance, a nonprofit health advocacy group, states on its web site that “counselors help clients cope with and adapt to the emotional, psychological, medical, social, and economic consequences of the test results. When communicating increased risk, counselors anticipate the likely distress and prepare patients for the results.”
When a risk is found, an informed choice without pressure or coercion is made when all relevant information has been given and understood.
Lacking the support of certified genetic counselors is a huge disadvantage to patients who do not have the information necessary to make informed decisions when they receive direct-to-consumer test results, Dr. Dalton explained.
By contrast, her patients can learn the risks and benefits and make an informed decision to live without her breasts and ovaries, due to a genetic predisposition for cancer.
“They are able to make this decision after proper genetic testing at Cape Cod Healthcare and a great deal of counseling. That is the standard of care everyone should demand and expect,” said Dr. Dalton.