Handling the Headaches of At-Home Genetic Testing

Jack Crosbie
JUNE 26, 2018

How Health Systems Can Clear the Confusion

Lee Ann McCoy, MS, a certified cancer genetic counselor at NYU Langone said the role of a clinical genetic counselor is part interpreter, part doctor, and part therapist. When patients receive their diagnostics from the lab, genetic counselors are there to talk them through the results and follow up on any additional testing, including on other family members who might be at risk.

“A lot of our patients who come in for genetic counseling may have taken a really long time to face, or decide to face, their risk,” McCoy said. “The idea behind just quietly doing this in your own private home could be appealing, but it defeats the purpose. We really work through what the implications of these tests can mean for [the patient] and their family.”

Kristin Platt, for instance, was in the middle of a dinner with her mother when she got her 23andMe results. She opened the email and skimmed through the data, noticing that she had tested positive for an alpha-one antitrypsin deficiency, something she’d never heard of before. At first, she thought she was just a carrier of some genetic trait, but when she got back to her parents’ house, she took a closer look. The kit’s results repeatedly urged her to see her doctor about the abnormality, and it occurred to her that she might be up against something serious.

>> READ: Why Consumers Could Drive the Genomic Revolution

Alpha-one is a dangerous mutation that causes long-term loss in lung capability and, if untreated, can take decades off an otherwise healthy person’s life expectancy. Platt, who’s now 43, had been diagnosed with adult-onset asthma at 35 and had been struggling with her lungs for years. As she learned more about the disease, she felt herself going through the stages of grief, signs she recognized from her own career as a drug and alcohol counselor.

“One day when I was cleaning house, I just sat down on the kitchen floor and started sobbing,” Platt said. “I really worked my way through it, but I realized that, you know, this is the way I was going to die.”

She said the 23andMe data were presented well and clearly indicated that she needed to take additional steps. Within a couple of weeks, she was in touch with her doctor and a genetic counselor from the AlphaOne Foundation, a nonprofit company focused on promoting research into the condition and improving quality of life for patients. This, Ginsberg and McCoy told me, is a vital step to reconciling the disorganization of direct-to-consumer model genetic testing and the traditional healthcare apparatus. If patients do use the tests—which they inevitably will—it’s important to confirm and absorb that data in a clinical treatment plan.

In Platt’s case, that’s exactly what happened. She’s a good case study for a possible future in which take-home tests can coexist with clinical services. Her doctors confirmed her diagnosis and caught her condition early. With augmentation therapy—regular injections of the protein her body struggles to produce—she can hope to lead a relatively normal life.

The analogy that advocates for take-home tests always return to is the pregnancy test. They give families a quick and easy way to alleviate fears or celebrate a new life-to-be. They’re not perfect—false positives and negatives are known to happen—which is why they’re almost always followed up by a visit to a doctor’s office. But pregnancy tests only look at a single variable: Are you pregnant? Genetic tests, on the other hand, examine millions of combinations of genetic factors and try to extrapolate real-life data from them. The importance of a follow-up visit, therefore, is amplified exponentially. Ginsberg doesn’t like direct-to-consumer genetic tests, but she conceded that anything that raises awareness of hereditary conditions, such as BRCA mutations, has the potential to help.

“It was information that I was able to use to change my life and save my own life,” Steinberg, the mother who underwent a double mastectomy after receiving her 23andMe test results, said. “Why wouldn’t everyone else want to have access to that?”

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