Anyone who has had BRCA1 or BRCA2 testing can log onto My Gene Counsel to learn about their gene and variant, and what they can do about the finding. Registered users of its recently launched patient portal can have their genetic test results paired with matching streams of information. For those who had testing done via a DTC kit, that would include how to get results confirmed at a medical-grade testing facility. In the next few months, all of the readily tested hereditary cancer and cardiac genes will be released, says Matloff.

Users also receive push notifications by text or email when any new evidence emerges about their particular genetic mutation. That’s important, says Matloff, because many people who have genetic testing done never return to a genetic counselor if they saw one in the first place. “Right now, there is absolutely no mechanism for patients to receive updates. They just have to hope that their healthcare provider remembers to update them the next time they go in for a visit… and that’s a tall order considering how many patients physicians are seeing and how little time they’re able to spend with each one.”

Come early 2019, My Gene Counsel will also be separately available as a portal for physicians, nurses, physician assistants and other healthcare providers, including genetic counselors, to look up specific gene mutations of their patients, says Matloff. Patients who are My Gene Counsel users can also enable their providers to receive the same relevant updates they do.

The new tool will require a lot less of providers’ time and be the better option from a malpractice point of view, says Matloff. Physicians would need hours, if not days, to exhaustively research some topics on their own, and they “simply don’t have the time and resources to [independently] stay on top of all of the updates.”

“Genetics is the most rapidly changing field in medicine, bar none,” agrees Fine, “so being able to tap into that database will be very helpful.” Over time, she imagines it could even guide clinical decision-making about when targeted interventions such as prophylactic surgery are justified.

Bridging the Divides

Consumers presented with concerning DTC genetic test results need guidance on next steps and may not know where to turn, says Laney. Most reports will instruct them to consider genetic counseling, but not how to find an affordable and available counselor.

Test results can also be hard to interpret, says Laney. Not long ago, a man who ran his raw data from 23andMe through Promethease came into Emory’s genetic clinic for a consult and testing only to learn his newly found genetic condition was a fluke, the result of a glitch in the software. “He had a variant alright, just not a disease-causing one,” she says. “If you’re a consumer that’s awfully confusing. All the terminology is hard enough for someone who has gone through medical school to understand.”

Part of ThinkGenetic’s mission, Laney says, is to translate complicated genetic information into plain language for the general population, so they enter the conversation with their PCP on a more level playing field—not simply barrage them with a long list of questions. “We’ve started with the conditions that are on carrier panels, have clinical trials, or are very common in the population, things where we know there are actionable next steps,” she says.

Admittedly, ThinkGenetic has a “long way to go in reaching out to PCPs, family practitioners, and neurologists/specialists,” says Laney. It has designed symptom-based, patient-specific summaries with actionable next steps to help with patient-doctor engagement so healthcare providers don’t get “blindsided” by patients who initiate a conversation about their risk for a specific genetic condition. But currently, the summaries cover only about 200 of 7,000 known genetic conditions.

ThinkGenetic’s “patient-focused diagnostic assistant” helps patients remember to mention critical signs and symptoms to their physician, says Laney, since some seemingly unrelated symptoms “could be key to knowing what’s going on with them.” An example would be people with Fabry disease, a rare genetic condition, where the important clues would include GI pain, a burning sensation in their hands and feet, and an inability to sweat normally.

For physicians, having a targeted ThinkGenetic summary that tells them the ways a genetic condition like Fabry disease can affect the whole body and the specialized treatment facilities where they can refer patients “sounds a lot better than ‘I don’t know’ or trying to bluff their way through it,” says Laney.  After a confirmed diagnosis of a genetic condition, ThinkGenetic’s summary content also provides healthcare providers and consumers with useful “tips and tricks” (e.g., a foot mister that cools the extremities, soothing neuropathic pain) beyond the targeted therapy.