Column 4 min read

Despite FDA Approvals of Direct-to-Consumer Tests, People Still Need to See Certified Genetic Counselors

23andme tests may be fun to try, but genetic counselors can provide a full picture of health risks.

By Karen Powell featured image Andrzej Wojcicki / Science Photo Library / Getty Images

The Food and Drug Administration (FDA) recently gave the green light for direct-to-consumer testing company 23andMe to test for three mutations in the BRCA1 and BRCA2 genes. These are two of the most commonly known genes associated with breast, ovarian, prostate, and other cancer risks. That’s why the FDA’s authorization has prompted conversation within the medical industry about how these tests fit into the larger referral and diagnosis process for patients. It also raises the question of how physicians and certified genetic counselors should be working together to educate those interested in popular tests, like those from 23andMe, especially when it comes to breast cancer.

While 23andMe has helped to raise the general public’s awareness and interest in genetic testing (especially once it was named one of Oprah’s “Favorite Things”), its limited testing scope and high-level results can leave people without a full and accurate picture of their health risks.

For the average person, the FDA’s approval of 23andMe’s BRCA1 and BRCA2 testing provides legitimacy and a feeling of assurance in the results. However, the 23andMe website states that “these reports are not intended to tell you anything about your current state of health, or to be used to make medical decisions.” It also suggests that if you receive a positive result from the test, you should seek retesting from a medical physician immediately.

The major difference between getting testing from a company like 23andMe or having a certified genetic counselor order testing based on your personal and family history of cancer, is expertise. A certified genetic counselor prepares you in advance of testing for potential results, including uncertain variations and genes that might affect your risks of developing breast cancer. The counselor can explain what your results mean and, if you do have a positive result, help you identify the options and next steps that would work for you and your family.

While some people are using tests like 23andMe as something fun to do, they are going into the process uninformed, as opposed to patients who work with a certified genetic counselor.

For example, I had a family meet with me after being referred by their doctor. They had a family history of breast and other cancers. However, when we looked at their family history, half the cancers in their family were smoking related. The remaining cancers in the family appeared more sporadic in nature. This meant the family was not at risk for genetically predisposed cancers. They left reassured, and did not have to spend the money on testing. Even if they chose to go through a self-pay option, they would have been more informed and would have had a better understanding of their results in light of their family history.

When someone goes through the process alone with a direct-to-consumer product, they could be scared by a positive result, or even worse may be falsely reassured with negative results that do not provide the full picture of their health.

Thanks to the American Board of Genetic Counseling, patients can find a local certified genetic counselor at Of course, referrals from other clinicians are also always appreciated.

Insurance companies often require the patient meet a set of common indicators for genetic testing to be covered, for example having a blood relative with a known mutation in a gene that increases the patient’s risk for cancer, having one or more blood relatives with cancer, having early age of onset of cancer, or having Ashkenazi Jewish ancestry.

Some people use products like 23andMe because they think it would be too expensive to go down a more traditional medical route. However, if a patient does not meet the criteria for insurance coverage, or if their insurance doesn’t cover genetic testing at all, there are low-cost testing options at laboratories that meet standards for incorporating test results into clinical care.

Medically prescribed genetic tests include multiple genes that increase the risk for breast cancer, as well as full testing of the BRCA1 and BRCA2 genes. They are not limited to just three mutations, and they cost approximately $250.

People who are interested in getting their genetic health risk information should be encouraged to seek the counsel of their doctor in collaboration with a certified genetic counselor. This approach provides them a comprehensive plan with experts that can prepare them, help them determine illnesses for which they might be at risk, and inform them of treatments that might aid in the prevention of conditions such as breast cancer.

With tests such as 23andMe BRCA1 and BRCA2 testing now in the marketplace, we as professionals need to be more prepared than ever to ask and answer new questions. Additionally, physicians who receive patients with questions about their 23andMe test should encourage and refer them to certified genetic counselors. The physician and certified genetic counselor can then work together as a team to choose an appropriate course of action based on the patient’s medical conditions.

Karen Powell, MS, CGC, is a diplomate and the past-president of the American Board of Genetic Counseling, the association that certifies genetic counselors and helps protect patients from the misuse of genetic testing.