Written by: Sarah Coles, MD and Tyler Coles
It’s getting harder to avoid omnipresent advertising for direct to consumer genetic testing. Sandwiched between podcast segments and scattered among your search results, you’ll find dozens of testing companies making promises in exchange for your, or even your dog’s, cheek swab. And the allure is understandable. Learn if you have perfect pitch, back hair, or an increased risk of developing Alzheimer disease. Uncover the secrets of your ancestry and the secrets of your eye color. At long last, we have a test that confirms you should lay off the milk and cheese. Amazingly, in that same report, you can discover if you carry BRCA. The availability of and demand for direct to consumer genetic testing has never been higher, and there is no sign the market has hit its peak. As physicians, we must approach this health trend as we would any other: do the benefits outweigh the risks and are our patients truly informed?
Direct to consumer (DTC) genetic tests are available for purchase online and in stores. In many cases, there is no requirement that customers consult a healthcare professional before participating. In exceptional cases where a physician order is required, such as when the customer is a minor, this order may be provided by a licensed clinician—contracted or employed by the testing company—after a questionnaire. Customers send in a DNA sample and receive their results directly from the company. The resulting report varies between providers, but often includes a wide variety of genetic information: making predictions about health, providing information about common traits, and offering information about ancestry. The testing process is designed to be as slick and painless as ordering the latest electronic gadget.
As physicians, we know that genetic testing is a complex process that includes significant history and risk assessment to properly order the tests and interpret the results. As part of the decision-making process prior to ordering any genetic test, physicians and genetics counselors routinely assess a patient’s risk for a disease state, prevention needs, current diagnoses, chronic and acute disease management, family history, and implications for family members and reproductive health. Detailed counseling and informed consent should be performed to discuss the risks and potential benefits of genetic testing. As medical science progresses in its understanding of the influence of genetics, it’s important to stress that many of these benefits are just probabilities, and that translating an “increased risk” into a plan of action for an individual patient is often impossible. Patients may find themselves with new unsettling questions and few answers.
Currently, DTC genetic testing is subject to limited regulation. There are no standards defining adequate informed consent nor requiring pre- or post-test counseling. Ethical concerns around genetic testing for individuals under the age of consent are unaddressed. The industry is not expected to prove analytical validity, clinical validity, or accuracy of their claims. For many tests, there is insufficient evidence to link a genetic marker to a particular trait or disease state, yet nothing stops companies from presenting these links as accepted medical facts. Even when genetic markers are well-linked to a disease state, there is no expectation that the results describe other factors which are likely to have far greater impact on disease risk, such as lifestyle, comorbid conditions, and environmental influences. With neither regulatory protections nor appropriate counseling, individuals may make important medical decisions based on inaccurate, incomplete, or misunderstood information.
Risks in the realm of genetic privacy are even murkier. Dressed up in medical jargon and imagery, people might presume their genetic data were as well-protected as their medical records. However, strong privacy protections like HIPAA do not generally apply to DTC genetic testing. Companies may claim ownership of DNA samples and are not obligated to destroy samples on request. Companies may retain the right to share genetic information with third parties, sell it directly or in aggregate, or use it to develop commercial products or services. Even when promises are made that customer information will not be sold, we are left to wonder which promises would survive bankruptcy or merger. When seemingly every week brings news of a fresh data breach, and even tech giants have trouble keeping passwords safe, can customers rest easy with their genetic information sitting in a database somewhere?
The potential harms of a genetic data breach are even more difficult to predict. While some laws are in place to protect people from discrimination based on genetics, the most prominent—the Genetic Information Nondiscrimination Act (GINA)—is woefully narrow and rapidly aging since its enactment in 2008. Its protections extend to decisions on employment, group health insurance, and Medicare supplemental plans. Meanwhile, life insurance, disability insurance, and long-term care plans are notably unprotected, as are schooling, housing, and lending. We can only imagine how scam artists could better target their victims with a full genetic profile at their fingertips. And consider that, while your social security number can be changed if it is stolen, genetic information is an identifier that you are stuck with for life. These are all good reasons to think twice before trading your saliva for a gene-powered earlobe report.
The potential for genetic testing to improve the practice of healthcare is exciting. However, we must temper this enthusiasm for medicine’s future, and consider the reality faced by our patients today. Look no further than Theranos to see the dangers of unbridled innovation in medical testing. Physicians must be the stewards of our practice and advocates for our patients. We should call upon the Food and Drug Administration to work with us to define reasonable standards for genetic testing and oversee the companies providing it. Genetic privacy and non-discrimination must be protected by law. And ultimately, decisions regarding genetic testing are best performed in consultation with a healthcare professional.