Prevention’s Next Frontier: Color’s Genetic Testing

By Lisa Wirthman

Group of people at prevention seminar

In the rapidly growing arena of personalized medicine, healthcare practices and products can be tailored to individual patients to create better diagnoses and more efficient treatments. One of the best examples is genomics, the study of our gene sets — a flourishing field that lets us see our DNA blueprints to understand how we work. The discipline has opened up the world of genetic testing and is helping us see where our biological instructions can go wrong.

As consumer awareness of the potential for early diagnosis of genetic diseases continues to grow, the global Direct-to-Consumer (DTC) Genetic Testing Market is expected to reach $2.5 billion by 2024, reports Global Market Insights.

Until now, genetic testing has largely focused on explaining poor health outcomes. But now, the head of one pioneering company says, he’s moving the conversation to a new and more proactive level: from explaining the underlying causes of poor health to preventing it.

The enterprise, Color Genomics, offers affordable at-home genetic testing for mutations that may indicate a higher risk for hereditary cancers, heart conditions and medication responses. The test sells for significantly less than previous products, making genetic testing more accessible to consumers.

For the company’s co-founder and CEO Othman Laraki, the mission to expand access to this powerful tool is personal.

“My grandmother passed away from breast cancer, and my mother survived it twice,” he said.

Genetic testing revealed that his mother has a genetic mutation, known as BRCA2, that increases her cancer risk – and that Laraki himself is a carrier.

“The question that emerged in my mind was whether there was a huge missed opportunity from not getting information to people earlier in their lives to use for prevention, as opposed to waiting and using that information as an explanation for why bad things happen,” he said.

According to a recent survey of about 500 primary care providers, about a third had ordered a genetic test, referred a patient for genetic counseling or returned a genetic test result.

Keep a pulse on the health trends that matter today.

  • Hidden
  • Hidden

Making genetics central to healthcare

Could genetic screening eventually become a part of regular checkups to help prevent diseases? According to a recent survey of about 500 primary care providers, about a third had ordered a genetic test, referred a patient for genetic counseling or returned a genetic test result.

Insurance carriers are experiencing the challenge of keeping up with the rapidly evolving technologies in personalized medicine to ensure that high quality, high value care is being delivered to members. Harvard Pilgrim Health Care, a leading not-for-profit health services company based in New England, is one carrier which is taking a proactive, yet balanced, approach toward broadening access to personalized medicine. The company announced in early 2018 a first ever value-based contract of its kind involving next generation sequencing-based assays, which gave members under the age of 35 expanded eligibility for prenatal genetic testing. Their hope was that the agreement would provide a model for balancing access and affordability for advances in personalized medicine.

Other organizations are working to collect more genetic data from diverse groups. In September, the National Institutes of Health (NIH) awarded Color a contract to establish one of three U.S. genome centers as part of its All of Us Research Program. This ambitious effort will sequence the genes of at least 1 million people across the U.S. to accelerate health research.

“We’re beginning to see several large population genomics initiatives really start hitting scale,” Laraki said. “I think that’s going to be very significant.”

Currently, a patient who goes to a doctor is assumed to be at the center of the bell curve for every medical decision, said Laraki. But genetics account for about 30 percent of people’s health outcomes and, as personalized medicine advances, doctors will be able to take into account how each person deviates from healthcare norms in terms of risks.

“Down the road people won’t be thinking of genetics as a separate product or application,” he said. “Genetics will be incorporated into the framework of how we think about everything.”

Lisa Wirthman is a journalist who writes about business, public policy and women’s issues. Originally published on Forbes, 2019.