Humans on average carry 1-2 mutations that could cause severe genetic disorders for them or their offspring. But what does that really mean?
It means something different for every person that finds out. Which is why genetic counselors are so important; for education, support, and guidance for the best course of action.
The trouble is, there aren’t that many trained genetic counselors out there. Lisa Alderson, cofounder and CEO of Genome Medical, puts the numbers at around 4,000 nationwide with an additional 2,500 geneticists who can make scientific sense of complex cases.
“It’s insufficient to meet demand today and it’s definitely going to be insufficient to meet the expected growth in demand in the upcoming years as genetic testing grows exponentially,” Alderson explained via phone.
That’s why she founded Genome Medical with the help of fellow Invitae alumnus Randy Scott and Harvard Medical School Geneticist Robert Green. (It’s the eighth company Alderson has helped grow from the earliest stages so she definitely has some entrepreneurial genes).
Genome Medical can’t solve the chronic counselor shortage, but it can increase access, timeliness, and ease. As it stands, patients that learn they are at higher risk of developing a type of cancer, or early-onset Alzheimer’s disease, may have to wait months to get a one-on-one appointment.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
With Genome Medical, they can schedule an appointment for the very next day (the team is working on same-day capabilities). Depending on the individual’s needs, an in-house genetic counselor or geneticist, or a contracted specialist, will be tagged in for the call — which can be via phone or video.
It’s early days, but Alderson said the team is working on getting coverage from insurers. A video consultation currently costs $149.
With the astronomical rise of genomics and personalized medicine, it’s a smart business to move into. Indeed, Genome Medical has already raised $12 million in funding from Canaan Partners, Illumina Ventures, HealthInvest Equity Partners and Flywheel Ventures. The company has struck additional partnerships with the likes of Good Start Genetics, which sells carrier screening tests.
Alderson said there is also significant demand for what she calls “proactive health,” before a test is ordered. The genetic counselors help explain a given person’s options and prepare them for what the results might mean.
A post-test consultation then includes a detailed “clinical action plan,” which summarizes all the findings, what they mean, and recommendations for how to best apply that knowledge.
It’s all part of the company’s broader mission to provide an end-to-end solution. Importantly, Genome Medical is also building out a team of doctors for additional guidance and integration of the genetic testing into the healthcare system.
“It’s really only at that point that you’re truly harnessing the power of these genetic insights,” Alderson noted. “If it is affecting and changing care for you as an individual, that’s a positive outcome.”
Photo: andresr, Getty Images
