Handling the Headaches of At-Home Genetic Testing

For Jill Steinberg, the take-home genetic test was meant to be fun. Her husband saw a sale on 23andMe kits, discounted for 2010 World DNA Day, and bought two on a whim, for himself and for his then-30-year-old wife, who was recovering at home after delivering their second child. Steinberg had no reason to suspect anything was wrong—she was young and in good health—but thought that diving into the genome she’d just passed down to another child could be interesting. Her sister, 4 years older, had recently battled breast cancer, but Steinberg’s latest trip to her obstetrician/gynecologist raised no red flags. She figured she’d spit in the tube, send it off, and maybe learn a bit more about her ancestry and genes.

>> LISTEN: Should Cops Have Access to Consumer DNA?

Five months later, Steinberg was in the hospital again, this time for a double mastectomy. The 23andMe kit had identified her as positive for mutations for the BRCA1 and BRCA2 genes, a condition that almost invariably results in aggressive, malignant breast cancer.

“I’m like 99.6 percent Ashkenazi Jew,” she said, referring to an ethnic group that the BRCA mutation is particularly common in. “I should be having this test, and my doctor told me it wasn’t necessary.”

(After getting her 23andMe results, there wasn’t friction with her doctor—he welcomed the new information and immediately set her on the path to confirming the information and providing care.) The take-home test started a medical journey that the Steinbergs never expected. At the time, 23andMe’s genetic results weren’t official, as the tests lived in a certification gray area that wasn’t under the control of federal standards. A few weeks after getting her results, Steinberg went to a traditional genetic counseling unit, which re-ran her genome at Myriad Genetics, a molecular diagnostics company, and confirmed that she did have the BRCA mutations.

“I didn’t want to sit around and wait for cancer,” Steinberg told Healthcare Analytics News™. “I have these two babies, and I didn’t want to sit around and wait, and all of a sudden, when they’re 13 or older, I have cancer. I couldn’t go through what my sister went through.”

Eight years later, Steinberg is cancer free, and 23andMe’s methods have gone legit: In March, the company received the first FDA approval to test for BRCA mutations for a direct-to-consumer product. But beyond that, these tests have become a cultural fad. Similar direct-to-consumer genetics services such as Color and Ancestry all contribute to a growing industry that analysts for the market consulting firm Credence Research predict will be worth $340 million by 2022. On Facebook, friends swap stories of shared Neanderthal genetics or forgotten family heritage, even delving into details like their genetically-predisposed wine preferences or DNA-compatible dating partners. Users like Steinberg say genetic testing should be as easy to access as a take-home pregnancy test, but doctors and other medical professionals worry that a direct-to-consumer model is no substitute for genetic services performed in a clinical setting inside the normal healthcare apparatus.

“There’s a lot of information and a lot of nuanced discussion that happens in the clinic, and that is the role of the genetic counselor,” said Ophira M. Ginsberg, MD, the director of the high-risk cancer genetics program at NYU Langone’s Perlmutter Cancer Center. “It’s much more than just revealing information.”

How Direct-to-Consumer Genetic Tests Get It Wrong

Direct-to-consumer tests, such as those offered by 23andMe, often provide users with raw readouts of their genetic markers, which they take to third-party services that can “interpret” the data. These outside vendors, like StrateGene and LiveWello, offer to interpret the raw data from 23andMe or Ancestry for an additional fee, transforming that data into easier-to-understand tidbits such as whether a customer is genetically resistant to getting norovirus or how that individual metabolizes caffeine.

In the messier economy of scale that these products inhabit (23andMe alone claims to have genotyped at least 2 million customers), physicians worry that false positives and overconfidence in the test’s results will cause patients to slip through the cracks. One study, published this past spring in Genetics in Medicine, noted that an aggregated sample of direct-to-consumer tests resulted in a 40 percent false positive rate when judging raw data from the various services. Although that appears to be an alarming figure, Inverse notes that the false positive rate is based on mistakes made by third-party services analyzing the raw data from take-home genetics tests.

>> READ: Genetic Databases Bump Up Against Privacy Concerns

Going that far into the fringe, the study’s authors warned, should never be a supplement for actual medical advice.

“While having access to raw genotyping data can be informative and empowering for patients, this type of information can also be inaccurate and misinterpreted,” the authors wrote. “Genetic testing needs to be interpreted by a qualified healthcare professional in the context of several other factors, such as personal and family medical history.”

But as direct-to-consumer genetic tests continue to proliferate, doctors will undoubtedly have to grapple with worry that some will see them as a replacement for modern medicine.

“Tools like this have really put the power and knowledge in the individuals,” a friend of mine from college told me, as I asked around about people’s personal experiences with the service. He said he’d used 23andMe specifically for the medical section and analyzed his data with a third-party service, hoping to “remove doctors from his life as much as possible.” “In my opinion, at this point, people should become knowledgeable themselves and take their health into their own hands unless it is an emergency or life-or-death situation,” he said.

“We certainly wouldn’t consider it advisable for somebody to interpret their own [genetic data] or have not commercial non-CLIA [Clinical Laboratory Improvement Amendments]-certified laboratory tell you whether or not you have a serious communicable disease, for example, which may have all kinds of implications,” Ginsberg said. (23andMenow uses CLIA-certified labs to perform its genetic tests, after New York and California told the company it couldn’t operate in their states without using verified labs; other direct-to-consumer kits may not have made the leap yet.) Still, outside of the raw data, take-home kits don’t offer any of the wealth of services that a clinical setting does.

“The main thing here that we’re concerned about is the lack of real kind of honest description of what the test can and cannot do,” Ginsberg said. “We feel they’re sort of misrepresenting what they are able to provide to the

population.”

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?”

Get the best insights in healthcare analytics directly to your inbox.

Related

How Did 23andMe Stumble in Its Early Days?

Using a Web-Based Platform to Deliver Genetic Results Responsibly

Lost in the CRISPR Hype, a Gene-Editing Giant Is Fighting Back