Knowledge Gaps of DTC Test

Ellen Matloff, president & CEO of digital health company My Gene Counsel, says she was adamantly opposed to DTC testing just six years ago. But since then, 15 million people have had one done, and the number of DTC genetic companies has mushroomed. “I realized, especially as a genetic counselor, I was doing consumers a disservice with my attitude. What we needed to do was find a way to use information from these tests to create a bridge for patients to the medical world.” My Gene Counsel is endeavoring to do that by becoming a trusted source of unbiased, evidence-based information for patients and physicians.

Some of Fine’s patients, including those with genetic mutations of unknown significance or who are BRCA-negative but have a concerning family history of breast cancer, were among the first to register. Other early adopters are BRCA-positive patients anxious to know how they will be monitored and what risk-reduction measures they can take.

23andMe and Ancestry dominate the “entertainment testing” market, telling people everything from their origins to genetic traits like curly hair and caffeine sensitivity, says Laney. But 23andMe is also now FDA-approved to assess their customers for seven rare genetic conditions such as Gaucher disease and alpha-1 antitrypsin deficiency as well as genetic predispositions for additional conditions, including breast cancer, Alzheimer's, Parkinson's, and  celiac diseases. Helix has also moved in this direction with DNA testing kits for diabetes and inherited high cholesterol. “I consider these screening tests because they’re really designed to look for genetic conditions that are actionable,” Laney says. “They’re more designed to suggest the possibility of a problem, and then you’re supposed to get further testing done at a doctor’s office.”

A growing number of DTC companies have also expanded into carrier testing, with implications for people in their childbearing years. Anyone identified as a carrier for a condition by a DTC kit needs to have the finding verified in a more specific diagnostic setting and receive genetic counseling to learn how the gene change may increase the risk for problems in their children, Laney says. Some carrier panels may also reveal an existing genetic condition or increased risk for a health issue.

“It makes sense for patients to share those results with their physician, mostly just to start the conversation,” Laney says, although PCPs mostly still view 23andMe as more of a “delegated annoyance.” Physicians should be at least be aware of the various DTC genetic tests being marketed to their patients.

Genetics and clinical diagnostics are related and, in some respects, overlapping fields. One big difference is that genetics can sometimes find “previvors” who are genetically predisposed to a disease, but do not yet have it. The advantage of knowing a person’s genetic predispositions before any sort of symptoms emerge is that physicians can work with patients to reduce their risk of disease or at least catch it at an earlier, more treatable stage, says Matloff. The information would be useful to the medical practices of primary care physicians (PCPs), OB-GYNs, breast surgeons, oncologists, gastroenterologists, and cardiac specialists, among others.

Before founding My Gene Counsel, Matloff ran the Cancer Genetic Counseling Program at Yale School of Medicine for 18 years, and during her tenure the cost of medical-grade genetic testing plummeted and was recommended more widely. It was also more often ordered by healthcare providers without the help of a genetic counselor. “We started seeing a lot of mistakes happening, bad mistakes, people who had their breasts and ovaries removed and then later learned that they hadn’t needed to, and people with advanced cancer diagnoses who were told their test was normal when in fact it was not,” she says. At the same time, thousands of people began to have DTC genetic testing and had their raw data in hand.

“I realized we needed to do something different, something digital and scalable that would not replace in-person meetings with physicians or a genetic counselor but that would be available faster,” says Matloff. “It would be different from a WebMD search and tie specifically to a person’s test result by gene and variant, and then send out push notifications as the field and our information updates.”