November 2019

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20 t m c » p u l s e | n o v e m b e r 2 0 1 9 Why You Should Talk to a Genetic Counselor About Your At-Home DNA Test Patients need experts to translate and interpret complex data K athryn Heiss has endured inexplicable fatigue and chronic pain for years. She bruises easily, suffers abnormal scarring and has developed hypermobile joints, but for a long time she did not know why this was happening to her body. After scouring the internet for answers, the Katy, Texas, resident suspected she might have Ehlers- Danlos syndrome, a condition that affects the connective tissues in the body and could lead to health complications. In December 2018, she sent a sample of her DNA to AncestryDNA. "I initially used AncestryDNA to help find and connect with living family members that I never knew existed," Heiss said. "I'd always been interested in my family's genealogy and history, so taking a DNA test to see how my genes affect me—and where they came from—seemed like the next logical step for me in my research." Heiss, 25, who trained with the U.S. Navy, downloaded her raw DNA data and combed through approximately 700,000 lines of genomic information. Based on the results, there was a possibility that she had inherited Ehlers- Danlos syndrome. But because the results were too broad to be definitive, Heiss decided to see a geneticist and genetic counselor at the Michael E. DeBakey VA Medical Center. That was a smart move, experts say. Genetic counselors play an important role as translators and interpreters of complex genetic information, helping people more clearly and accurately understand their test results. "We're also there to provide resources and help them navigate what may be reliable and what may be less reliable," said Daniel Riconda, pro- gram director of the Genetic Counseling Program at Baylor College of Medicine. "When you look at the internet and the vast wealth of informa- tion out there, sometimes it's hard to know what is science and what is science fiction, what is anec- dote, what is biased or unbiased. Although by no means do we have all of the answers to all of the questions, we may be able to provide some guidance to some of the resources that are more or less useful in that regard." Direct-to-consumer genetic tests have surged in popularity in recent years, with a growing population of consumers dab- bling in recreational genomics and sending off their DNA to companies such as and 23andMe to learn more about their traits, ancestry and health. More than 26 million people had used an at-home DNA test kit by early 2019, according to the MIT Technology Review. "We, by nature, are super curious people. We want to know information," said Amy Lynn McGuire, J.D., Ph.D., director of the Center for Medical Ethics and Health Policy at Baylor. But genetic tests can also deliver devastating news to con- sumers about their increased risk of certain health conditions, such as breast cancer, ovarian cancer, Alzheimer's disease and Parkinson's disease—raising questions about how the tests should be interpreted and who should be interpreting them. "The ability to get access to, not just genetic information, but all kinds of health information has really changed in the last decade or so. Things are much more toward direct-to-consumer access, as well as online access," McGuire said. "That really challenges how we think about the traditional health care pro- fessional-patient relationship. From my perspective, the gold standard is to be able to sit in a room with somebody and to get the information in a way that is put into context for you from the beginning." Before direct-to-consumer genetic tests, genetic information was often delivered face-to-face with a doctor who would explain the results and how to proceed, but the prevalence of these testing kits has removed the health care professional from the conversation. Genetic testing is "an evolving science," Riconda said. "In the end, home genetic testing, direct-to- consumer testing, is here to stay. The question is how best to respond to the consequences, benefits and limitations of it." Kathryn Heiss spoke to a geneticist and a genetic counselor after a sample of her DNA determined she likely has a form of Ehlers-Danlos syndrome. B y S h a n l e y P i e r c e

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