Color Moves Beyond Hereditary Cancer Testing With High Cholesterol Genetic Test

This article has been updated with a statement from the FH Foundation.

NEW YORK (GenomeWeb) – Genetic testing firm Color Genomics today expanded beyond the hereditary cancer risk market by launching a test for hereditary high cholesterol.

The test for familial hypercholesterolemia (FH) detects inherited mutations in three genes known to cause the majority of cases — APOB, LDLR, and PCSK9. Mutations in these genes cause high cholesterol levels, which if untreated can lead to coronary heart disease.

There are 74 million people in the US with high cholesterol, and 1 in 50 have FH. If gone undiagnosed and untreated, people with FH are 22 times more likely to develop coronary heart disease than those with without FH and normal cholesterol. However, most of the people with FH in the US don't know they have it.

"We identify less than 1 percent of people who have this condition," said Color's Chief Medical Officer Jill Hagenkord. "And it's entirely preventable and treatable with statins and other medications."

According to Hagenkord, with this offering, Color is making headway in its goal of building a preventive health service. In addition to the FH test, Color also sells a 30-gene hereditary cancer risk panel through a consumer-initiated, physician-ordered model. Later this year, the company is planning to launch other actionable genetic tests and services that customers can use to be more proactive about their health. Eventually, the company hopes to provide preventive services beyond one-and-done genetic tests.

"At Color we think of ourselves not necessarily as a genetic testing company but more as a health service company," said Hagenkord. "One of the types of services we can offer is preventative genetic testing."

In offering the FH test, Color seeks to address an unmet need in the same way that it did with its 30-gene hereditary cancer risk test. The company launched two years ago with that flagship test following studies suggesting that genetic testing through the traditional healthcare system was missing a significant number of women who had deleterious mutations in hereditary cancer risk genes, such as BRCA1 and BRCA2. 

These tests historically carried list prices of more than $3,000. And although prices have come down in recent years, doctors still order tests and insurers pay for them if patients have a medical and family history of cancer. However, research from University of Washington's Mary-Claire King has shown that 50 percent of women with deleterious mutations in BRCA1/2 have no family history of the disease. 

"Even if they were at high risk with a strong personal or family history of cancer, often times there were just so many barriers to access that those people who needed to get tested weren't getting tested," Hagenkord said. King has been advocating for population screening for women starting at age 30 based on her research, which inspired some organizations to offer free screening programs and spurred the launch of lower-cost providers like Color. 

Color's service sought to launch a genetic test that was priced so low that men and women who lack the family history to qualify for insurance-covered testing could pay out of pocket and learn their risk. The FH test carries the same $250 price tag as the 30-gene hereditary risk panel, though customers who want to get tested for both will pay $350.

Attempting to further lower the cost barrier for consumers, Color partnered with employers to launch a benefits program, through which employees at these firms could access hereditary cancer testing at a significant discount or even for free. The company is looking into a similar strategy for the FH test. "The biggest healthcare spend for self-insured employers is cancer and cardiovascular disease, so there is a palpable value proposition for them," Hagenkord said. 

Color's disruption of the traditional pricing and access frameworks within the hereditary cancer space has garnered the attention of insurers. The company announced earlier this year that its test will be covered as an in-network test option by several insurers, including UnitedHealthcare, Anthem, and Blue Shield of California, when enrollees meet certain criteria around personal and family history of cancer. 

"We're at this point in the history of genetics and genomics, where preventive genetics is ready to go," she said. When it comes to FH, patient advocates and public health experts have pointed out that genetic testing access for the condition is insufficient.

Color is launching its test on the heels of groups like the FH Foundation and even the US Centers for Disease Control and Prevention, which have been trying to refine approaches of identifying FH patients and affected relatives. In 2013, the FH Foundation, a patient-led non-profit, put out a "call to action" to "bring greater attention to this potentially deadly, but … eminently treatable, condition." 

Hagenkord pointed out that countries with nationalized healthcare systems are able to identify more than 70 percent of those with FH and get them the right treatment path. In the Netherlands, for example, after an individual is genetically tested and found to have FH, their family members are identified and "they literally send nurses out on bikes to the houses of the at-risk family members to make sure they get tested," Hagenkord said.

While this model cannot be broadly replicated in the US, the FH Foundation has established the so-called Cascade Screening for Awareness and Detection of Familial Hypercholesterolemia (CASCADE FH) Registry as a way to identify patients, as well as track their treatment and outcomes. The strategy involves identifying undiagnosed patients by screening electronic health records; specialized lipid clinics that enter data from patients about tests and treatments; an online patient portal that allows individuals with LDL or total cholesterol levels suspicious for FH to self-enroll; and mechanisms to inform family members about testing. 

Color partnered with the FH Foundation in launching the test, which it believes can help support cascade testing for FH, given its low cost and since family members of tested individuals can also get tested at a significant discount. A first degree relative of a person with FH has a 50 percent chance of also inheriting the disease. 

"It is challenging for someone who has been diagnosed with a life-threatening condition, especially one that most people have never heard of like familial hypercholesteromia, to convince their family members of the importance of being screened," said Katherine Wilemon, CEO and founder of the FH Foundation. "The combination of offering genetic counseling and low cost genetic testing for the known mutation in family members will hopefully encourage family screening and lead to a significant increase in diagnose and appropriate care."

The FH and hereditary cancer risk tests are physician ordered, which means that when customers go to buy the test online, they can authorize a provider within a network (independent of Color) to order the test. Alternatively, customers can submit a requisition number from their doctors who have ordered testing for them. Physicians in the network follow their own criteria on when it's appropriate to order testing for someone, Hagenkord explained, and may reach out to the patient for additional information on medical or family history. A customer who decides to have a network doctor order testing, can also instruct Color to share the report with his or her own physician.

Both the FH and hereditary cancer risk test use a large next-generation sequencing panel that Color performs in its CLIA-certified lab. Looking ahead, Color will launch additional genetic tests that can prevent disease, but Hagenkord declined to disclose specifics. "There are professional society guidelines that are coming out around incidental findings and large studies going on in research returns of results," she said. "Our medical experts are involved in those projects and sit on those committees, so we're pretty tied into things … that are adult-onset, overtly actionable, [and] preventable genetic disorders."