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.
Prevention that’s easy, accessible and secure
Laraki and his cofounder Elad Gil had already worked together at Twitter and Google when they had the idea of incorporating genetics into preventative care. In 2013, they launched Color.
The company took a big step forward when the cofounders connected with geneticist Mary-Claire King, who had discovered BRCA1, the so-called breast cancer gene. King put the company’s technology through a battery of tests to see if it could accurately identify gene mutations. When she found that Color met her standards, she agreed to assist the company as an unpaid advisor.
Currently, much of Color’s growth comes from sales to large employers – including Levi Strauss, SAP, Home Depot and Salesforce – who offer the test as an employee benefit. But prioritizing accessibility is a core mission for the company, which sells its products in over 100 countries.
If a person has a genetic mutation, his or her first-degree relatives face up to a 50 percent chance of also having that mutation. Color lets consumers who purchase a test for themselves buy additional tests for family members for $50 each.
The company is also expanding access to genetic testing through its Color For All program, which partners with top hospitals and cancer clinics to donate free testing to underserved people.
But accessibility is about more than just the cost of testing, said Laraki. Another barrier, he said, is the logistics of how most testing is done – via an “extremely high friction” process that can include multiple doctor visits.
“The convenience barrier is at least as important as that of cost,” he said.
Color’s physician-ordered tests require only a saliva sample at home. The results are available securely online within a few weeks and include consultations with genetic counselors.
Color also offers genetic counseling time to doctors who may not be cancer specialists, but are tasked with interpreting results for patients.
“All the reports and tools we have online are really designed to assume we’re talking to a non-specialist audience,” Laraki 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.
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.”