When Color launched last year, it was with a $249 saliva test that would tell you if you had one of 19 genes associated with breast cancer, including BRCA1. While only a slim percentage of Americans carry such gene mutations, the test is another example of the ways healthcare startups are making previously expensive services and screenings available to the general public.
On Thursday, that access is getting even broader. As Color embarks on year two, the company is expanding its test to doctors internationally.
The company's main goal is to break down barriers to access by lowering costs. Typically, testing for breast-cancer-related genes can run anywhere from $300 to $5,000, according to BreastCancer.org. In the U.S., some of that expense may be covered by insurance, but it largely depends on a set of criteria specific to each insurer. Blue Cross Blue Shield of North Carolina, for example, stipulates that it will cover genetic testing for BRCA1 or BRCA2, genetic mutations associated with breast and ovarian cancer, based on an individual's medical history and whether members of their family were known carriers of the genetic mutation in question. Still, the National Cancer Institute says those with no health insurance and significant financial need may be able to have genetic testing done for free in some places.
"Only 15% or so of the carriers know that they are at risk and are not getting the opportunity to manage their risk with their physicians. That's what we're really focusing on," Color founder Othman Laraki told Mic.
Pushing Preventative Care: One of the biggest initiatives to come out of the Affordable Care Act was a push toward preventative care. Services at U.S. health care providers are largely transactional, i.e., you get a sore throat, so you go to a doctor to get tested and potentially receive antibiotics. You pay for the testing and the meds. This health care system is largely reactive rather than anticipatory.
Under the ACA, passed in 2010, U.S. citizens are entitled to a number of tests and services to catch health problems before they arise. These services are not free, but they come with the monthly cost of insurance, so there is no co-pay or additional fee associated with them. Unfortunately, few may know about these options. In 2014, less than half of the people polled by the Henry J. Kaiser Family Foundation knew about this component of the ACA. Still, in August 2015, 20% of women and 16% of men, both insured and uninsured, stated that cost was a barrier to having a preventative procedure done, according to the Henry J. Kaiser Family Foundation.
While the ACA is trying to push both insurers and the healthcare industry at-large towards a more preventative care model, groups outside the traditional system are finding other ways to distribute medical services to a broader spectrum of people.
Color is one of a growing list of health tech startups opening up access to medical services to more Americans. The premise being, who cares if insurance covers the test or not, it's $249. Similarly, startups like telemedicine company Doctors on Demand and home visit facilitator Pager are offering patients low-cost ways to avoid the emergency room when they have medical issues that aren't dire but also can't wait weeks for an appointment with their general practitioner.
Color isn't the only genetic testing business in town. Both 23andMe and the controversial blood-testing startup Theranos offer their own variety of low-cost tests. For $199, 23andMe will tell users if they are a carriers for over 35 genetic disorders, including cystic fibrosis, Tay-Sachs and sickle cell anemia, among other conditions. Theranos, meanwhile, purports to offer more than 240 tests at prices ranging from $1.73 to $117.
The AMA report: A report in the Journal of the American Medical Association reviewed the cost-effectiveness of Color's $249 price. "Although the announcement of a $249 genetic test offered by Color Genomics may induce more price competition, given the extraordinarily low prevalence of BRCA mutations, the potential value of population-based genetic testing is questionable," the report notes.
Mutations in BRCA1 and BRCA2 genes account for 5-10% of the total number of breast cancer cases diagnosed in the U.S. every year, which comes out to roughly 23,419 people, based on numbers from the American Cancer Society. This test will not affect an overwhelmingly large number of people. However, the report does indicate that universal BRCA testing could help unearth these genetic mutations earlier and thus lead carriers to make proactive decisions about their health — like Angelina Jolie's double mastectomy.
"Universal BRCA screening could avert an additional four breast cancers and two ovarian cancers per 10,000 women screened compared with family history–based screening," says the report.
It also concludes that while universal testing for BRCA gene mutations has some potential positive outcomes, the health care infrastructure might not be ready for it. "The logistics of genetically testing more than 100 million women pose additional challenges and would likely overwhelm the capacity of existing genetic counselors. Asking primary care physicians to counsel and test patients would further tax overburdened clinicians, so other avenues, such as mail-order testing and online counseling, would need to be explored," the report continued.
Health concerns: While health care startups like Color offer great promise for distributing affordable medical services, they don't come without pitfalls. Disrupting the medical industry isn't the same as doing so in other industries. When you "move fast and break things" in health care, people's lives are at stake.
In 2013, the Food and Drug Administration told 23andMe it couldn't market its genetic services as medical advice. Two years later in October 2015, the Wall Street Journal cast a negative light on Theranos, calling into question its technology and lab practices. Then complaints by former employees filed with the Centers for Medicaid and Medicare Services and the FDA popped up challenging the accuracy of Theranos' proprietary finger-prick blood test technology.
Since then, 23andMe has gotten FDA approval to do its direct-to-consumer genetic tests. Theranos has not been so lucky. The FDA is still investigating Theranos. Meanwhile its largest corporate partner, Walgreens, has threatened to stop working with the lab.
For Color, that means many will take a closer look at its operations. Like Theranos, Color has Clinical Laboratory Improvements Amendment certification. Additionally, Color has regular reviews by the College of American Pathologists. Unlike Theranos, Color tests must be ordered, administered and reviewed by a physician; this test is not a direct-to-consumer play. Also, Laraki told Mic his lab isn't doing anything substantially different from most labs; they've just introduced a lot of automation. He also says the company is working with researchers at the University of Washington, University of California, San Francisco and Morehouse School of Medicine to further advance cancer detection research. The lab also plans on contributing anonymized data to ClinVar, a public database of gene variants run by National Center for Biotechnology Information.
Correction: March 16, 2016