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Thursday Mar 29, 2018

DTC Tests Raise Questions Among Patients, Physicians

The FDA recently approved a direct-to-consumer (DTC) genetic test that offers an assessment of a person's risk for breast cancer. Although consumer interest in such tests is increasing, the agency itself acknowledged in a press statement that the product has significant limitations.(www.fda.gov) Furthermore, a recent analysis indicated that 40 percent of DTC tests could yield false-positive results.(www.nature.com)  

[person swabbing cheek with cotton swab]

AAFP News: What are the potentially positive aspects of direct-to-consumer genetic testing?

Decker: I like things that get patients involved in their own care and pique their interest. I like things that are engaging and make people in charge of their own health care. I like things people can do for themselves and pursue on their own. In general, the availability of direct-to-consumer genetic tests does a great job of this.

Private companies are pushing people to be more aware of their health and wellness, and we're getting better at understanding genetics and gene therapy. It's an exciting field in medicine, and I am always excited to talk to patients about it. Basically, anything that gets someone to talk to me about prevention and wellness more is a good thing.

Lazarin: As physicians, we don't get a lot of genetics training in medical school. The field is rapidly expanding -- not just with direct-to-consumer products -- and the increased interest will hopefully motivate physicians to learn more about genetics and its influence in the health of our patients as they bring questions and test results into our offices.

AAFP News: What downsides do you see?

Lazarin: I'm wary of how much emphasis patients put on tests in general, even if it's something like cholesterol. They often put more weight on the test than the lifestyle modifications we recommend. Sometimes when a test comes back negative, people consider that a clean bill of health without realizing there are multiple factors that contribute to being healthy. There needs to be a conversation about what the test results can and cannot actually tell them about their health and potential health risks. I worry that the companies marketing the direct-to-consumer tests may mislead the consumer about limitations of their tests. What if the science simply isn't there yet to support the test's claim?

Decker: Genetic tests are aimed at specific genes. Let's say a test considers three specific genes, but they might be only three of 20 risk factors. People forget there are innumerable other factors that contribute to health or that could increase the risk of getting a disease. If a patient has a family history of breast cancer, that's an opportunity to have a conversation about risks. Now a patient with a family history of breast cancer might get this new test, think they are at low risk and never see anyone about it again.

Lazarin: I think direct-to-consumer tests should connect consumers to genetic counselors to answer their questions. If someone has a high-risk test result, who is responsible for explaining that information? If I order a cholesterol test, I'm responsible for making sure the patient knows what their results mean. Are these companies putting anything like that in place? What is their ethical responsibility?

Also, what are they doing with people's genetic information going forward? How are patients going to be affected by a negative result? Some of their genetic information is protected by the Genetic Information Nondiscrimination Act of 2008, but there are gaps that the consumer may not be aware of when they choose to take the tests.

Decker: Those are great questions. Many people think that all health information is protected, but life insurance and disability insurance can adjust rates or make inquiries based on results of these tests.

AAFP News: Of the various tests available, which do you see as having the greatest possible utility?

Decker: Guidelines for when and who to test can be complicated. If a woman has a mother and an aunt who had breast cancer, they still might not need to be tested. It depends on what age (their relatives) were diagnosed. Also, if they have other family members with other types of cancer, that increases their risks. Basically, any direct-to-consumer testing could be beneficial, as Margaux said, in the context of a conversation with a genetic counselor or by having a family physician who can interpret the results.

Lazarin: I agree. There is potential with some of these tests to be used in prevention. Typically, patients with certain hereditary cancers are offered genetic testing after they have the diagnosis. With proper guidance, patients who are at risk could potentially have testing before the disease itself presents -- though this doesn't necessarily have to be direct-to-consumer testing specifically; physician-mediated testing could also play an important role. However, for patients whose physicians don't know about the tests, or with insurances that restrict coverage, or even with limited access to genetic counselors, the opportunity for highly motivated patients to have an opportunity for direct-to-consumer testing could be helpful in certain situations.

That said, I think the utility of the disease-risk tests depend somewhat on which disease. For example, cystic fibrosis versus obesity or heart disease. As we mentioned before, genetics may only be one part of the puzzle, while lifestyle choices, the environment and social determinants of health may also be significant pieces.

AAFP News: Are there certain patients or patient groups who might benefit from using the tests?

Decker: The BRCA test from 23andMe could be particularly helpful to the Ashkenazi Jewish population because the genetic mutations it tests for are most common in that population, but it's not going to be as useful to other populations in which those three specific genes are not the primary drivers of risk.

Lazarin: I think it's also important to keep in mind that there are other BRCA tests available other than the direct-to-consumer test. Otherwise, I believe that any patients who are motivated to learn more about their health could potentially benefit.

AAFP News: How would you counsel patients who ask you about these types of tests?

Decker: Patients aren't asking about direct-to-consumer tests yet, but I definitely have them asking about genetics. It's been great to go through the tools with patients and be able to say, "With this history, we have this recommendation and this guideline to order this robust test." I haven't heard anyone ask specifically about direct-to-consumer tests. That could be because I work in a relatively impoverished area, and these are expensive and usually out-of-pocket tests.

Lazarin: I have family members who have asked about specific DTC tests, and patients asking about genetic testing but not specifically direct-to-consumer tests. For people with certain hereditary concerns and high risks, there is an opportunity to use these tests as part of a larger discussion about understanding their risks.

AAFP News: Are there particular patients or patient populations you would urge to steer clear of DTC tests?

Lazarin: I'm concerned about seeming paternalistic. If someone is interested in it and engaged in their health care, why discourage them? Some may prefer to receive certain health information in the privacy of their home. I keep thinking about one of the first direct-to-consumer tests, which was the home pregnancy test. Physicians were worried about it. They thought women couldn't handle getting the results alone, and that it would be more harm than help. The medical community could learn from that experience.

We're supposed to be adopting team-based care and patient-centered collaboration and moving away from the process where the doctor tells the patient what to do and the patient does it without asking questions. If a patient is interested and wants information, that's a good thing.

Decker: The tests we're talking about would be vetted and approved by the FDA, so they should be safe and appropriate.

AAFP News: Will this boost patients' engagement in their health and well-being?

Decker: Like Margaux's pregnancy example, the result should not be the end. What's the next step? It should be, "I'm going to talk to someone and do something." The same should be true of genetic testing. Positive or negative, you're going to need some kind of explanation. Thus, I really hope the tests result in increased interest and engagement, and I would be a little worried if they resulted in less engagement.

AAFP News: Overall, what do you think about the FDA's movement in this direction with DTC products?

Decker: The FDA is getting things through the approval process faster as the result of de novo premarket review for low- to moderate-risk products that are not similar to other products already on the market. That's pretty reasonable. In the past, the FDA has been slow to approve things compared to their colleagues in other developed countries. There are benefits and harms to that, too.

Lazarin: I think it's good that the FDA is involved. What do we do with information that's not HIPAA-protected? We are living in an era where the discussion around how personal information gets out there and how it is used is very relevant. From medical devices such as pacemakers and monitors that send data to the manufacturer to mobile devices and fitness trackers, our information is getting out there. There needs to be some sort of oversight. The laboratories that offer the DTC tests should be held to the same accreditation standards and held accountable for quality control and improvement.

AAFP News: Any final thoughts?

Lazarin: Ultimately, anything that empowers patients to take an active role in understanding their body and their health is exciting and important to me as a physician. It can be used to understand what the patient's priorities are and open the door to conversations about quality of life and patients' goals.

Decker: We are definitely in the realm of Star Trek medicine here. I am excited to see where we go with genetics and gene therapies, and I am hopeful that this will be an empowering, informative field.

Stewart Decker, M.D., is a family physician practicing in southern Oregon. He focuses on the intersection of public health and primary care. You can follow him on Twitter at @drstewartdecker.(twitter.com)

Margaux Lazarin, D.O., M.P.H., provides comprehensive family health services at community health centers in the San Francisco Bay Area, with a focus on providing evidenced-based care for underserved communities. Her husband is a genetic counselor.

Posted at 10:36AM Mar 29, 2018 by Stewart Decker, M.D., and Margaux Lazarin, D.O., M.P.H.

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