This week Color Genomics took the wraps off its first cardiovascular test for hereditary high cholesterol disorder —Familial Hypercholesterolemia (FH), a condition which increases the likelihood of developing coronary heart disease. The condition affects one in every 250 people, according to a post on the Centers for Disease Control’s Genomics and Health Impact Blog.
FH is caused by a mutation in one of several genes, according to the FH Foundation, including the LDL receptor, apolipoprotein B, or proprotein convertase subtilisin/kexin type 9.
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Color Genomics reasons that because so few people with FH are aware they have the condition, the $250 test could spur this patient population to adopt a healthier lifestyle earlier and reduce the risk of having a heart attack or developing another heart-related condition.
The CDC said “cascade screening” is “highly effective”. When one person is identified as having FH, first, second, and third degree biological relatives can know if they inherited the same genetic mutation that puts them at risk for heart disease, since only 10 percent of the population has been diagnosed with it. The tricky part is identifying who carries this genetic mutation in the first place. And from a privacy point of view, the U.S. system relies on individuals notifying family members themselves.
Color Genomics Cofounder and CEO Othman Laraki suggested in a blog post that the FH test is the first of many cardiovascular tests to come from the business.
As medical costs soar, the healthcare world is undergoing a transformation from reactive treatment to preventive care. At Color we’re building a preventive health service which helps people learn their genetic risk in important health areas like heart health and cancer — and use that knowledge to be more proactive about staying healthy, which could save their families (and our entire healthcare system) lots of money.
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Forbes highlighted the mixed attitudes towards Color Genomics’s approach with the FH test and testing for other forms of heart disease including Robert Green, a researcher at the Brigham and Women’s Hospital. He acknowledged that increased screening would drive up costs and risks causing a slippery slope of doing more tests rather than reducing them.
“This is in-frame with a whole societal moment that’s moving toward the option of pre-dispositional genomic sequencing even when experts are still very divided about the long-term downstream consequences of it,” he said.
The article cites other physicians who favor making the best of what is already available, specifically cheap and readily available low-density lipoprotein (LDL) tests for harmful cholesterol.
Interestingly, a randomized clinical trial underway seeks to determine whether people identified as likely to have FH through a search of electronic health record data leads to cascade screening if these individuals receive genetic testing results and counseling to contact relatives about their risk of FH, the CDC noted in its blog post.
Correction: An earlier version of this story incorrectly reported that Robert Green works with Color Genomics. We regret the error.
Photo: Danil Melekhin, Getty Images
