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Direct-to-Consumer Genetic Tests: A Practitioner’s Guide

By Jennifer Larson, contributor

If you haven’t yet encountered a patient who wants to discuss their genetic disease risks, based on the results of a test like 23andMe, it’s only a matter of time.

And practitioners need to be ready, say the authors of “ Cases in Precision Medicine: When Patients Present with Direct-to-Consumer Genetic Tests Results,” which published May 7, 2019, in the Annals of Internal Medicine.

“Given the rise in public interest in human genetics and precision medicine, direct-to-consumer (DTC) genetic testing is becoming increasingly popular, and clinicians should expect patients to present the results of these tests,” they wrote.

These genetic tests are marketed to consumers and provide information on ancestry and family traits like eye and hair color, but some now also offer health information. For example, in April 2017, the U.S. Food and Drug Administration cleared the way for the marketing of the 23andMe Personal Genome Service Genetic Health Risk tests for ten conditions and diseases.

“These tests may offer information on risks for certain diseases, carrier status for autosomal recessive diseases that have reproductive implications, and pathogenic variants (the preferred term for what are colloquially called ‘mutations’),” the study’s authors noted.

Thus, physicians and other healthcare practitioners may want to learn more about these results and how they can advise their patients who have questions.

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When test results can give a false sense of security

A consumer can purchase a “Health and Ancestry” test from 23andMe that will reveal information on factors such as the presence or absence of three particular variants in the BRCA1 and BRCA2 genes.  A negative result for those three variants might convince a person they’re not at risk for hereditary breast cancer, when actually, they could still have a mutation or variance that the test doesn’t include in its screening.

“I don’t want people to be lulled into complacency when they get a normal result and think, ‘Now I’m off the hook,’” said Wendy Chung, MD, PhD, one of the study’s authors.

The false sense of security that some people may develop upon receiving test results concerns other doctors, too, like Russel Kaufman, MD, FACP, FCCP, chief medical officer of Kentmere Healthcare Consulting Corporation.

5 ways providers can respond to consumer genetic tests:

1. Learn about the tests. Since these kinds of direct-to-consumer genetic tests are becoming increasingly popular, doctors may want to take some time to read up on them and learn what they entail in advance. “They have to understand what genes are being tested and what variants are being tested,” said Kaufman.

2. Acknowledge the results. Don’t blow it off if a patient walks into the exam room and presents the test results. “You’ve got to take the results, and you’ve got to deal with them,” said Kaufman. “You can’t ignore them.”

3. Talk to patients about their reasons for taking the test. “Ask, ‘Why did you take this test? What did you hope to get out of it?’” suggested Chung. You may be able to discover some of their concerns about their family history, and can determine the best way to proceed from there.

4. Consult with a genetic counselor. Don’t be afraid to consult with someone who’s an expert in this arena. “If the practitioner has insufficient knowledge of genetics, input from a genetic professional may alleviate risks for misinterpretation of results, inappropriate disease management or prevention or inadequate follow-up,” the Annals of Internal Medicine study authors wrote. 

5. Refer a patient to a genetic counselor. You may feel more comfortable referring a patient to a genetic counselor to further discuss their concerns and determine what tests, if any, might be appropriate for them. 

Helping patients understand the limitations and risks of consumer genetic tests

In addition to “negative” test results possibly giving a false sense of security, the FDA has acknowledged that there are some additional risks related to taking DTC genetic tests. They have identified strategies for consumers to consider, which physicians and advanced practitioners can share with their patients.

For example, the FDA notes, “A positive test could be stressful and upsetting, as you may learn information that suggests you might be at an increased risk for a disease or condition. Remember that a positive result from a test does not mean that you will develop that disease or condition.”

The FDA has stressed that consumers should not forego visits to their healthcare provider, including screenings, which you and your staff may want to reinforce.

What if patients ask you first?

Some patients may ask for your opinion on direct-to-consumer genetic tests before taking one.  You can tell them that it’s perfectly fine to take such a test for fun or to learn more about their biological family, said Chung. Just make sure they understand that the tests do have limits.

Direct-to-Consumer Genetic Testing - AMA

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