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What to know about Familial Hypercholesterolemia (FH)

Jill Hagenkord

Cancer and cardiovascular disease are the two leading causes of death in the United States. Color’s Hereditary Cancer Test already helps people avoid the former, and in August we took our first step toward combatting the latter by, releasing the Hereditary High Cholesterol Test, a genetic test for a form of high cholesterol called Familial Hypercholesterolemia (FH). Today, in honor of FH Awareness Week, I’d like to talk about FH, why it’s been hard to diagnose, and how Color’s Hereditary High Cholesterol Test could be the first example of a medical test that can help educate doctors by empowering patients.

The big problem

About 74 million Americans have high cholesterol. About 1 million of them have FH and have been exposed to high cholesterol since birth. Half of their children will be born with high cholesterol, too. If FH isn’t identified and aggressively treated at an early age, affected individuals have a twenty-fold increased lifetime risk of coronary heart disease compared with the general population.

The good news is that with proper diagnosis, FH is eminently treatable. The bad news is that very few of those 1 million people even know they have it. To remedy this, Knowles, et al recently published this “Call to Action” to health care providers, professional organizations, public health programs, and patient advocacy groups to bring attention to our failure to diagnose FH in the U.S. This concern is shared by the Centers for Disease Control (CDC), which has classified FH as a Tier 1 Genomics Application in Public Health because “at present, it is poorly ascertained by the healthcare system, many individuals and families affected by them are not aware that they are at risk; however, early detection and intervention could significantly reduce morbidity and mortality.”

That last part is the key. I italicized those phrases above because they highlight that, when it comes to diagnosing FH, our healthcare system and healthcare providers are themselves part of the problem. The reasons for this are understandable — lack of genetics education in medical training, rapid advances in our understanding of genetic diseases, and not enough time to keep current in esoteric topics like genetics.

A broken system

Primary care providers (PCP) often have to schedule patients at 15 minute intervals, leaving them about 11 minutes of facetime to manage multiple conditions, one of which may be high cholesterol (ref, ref). Most PCPs (and many cardiologists) incorrectly believe, to put it simply, that high cholesterol is high cholesterol — it doesn’t matter if it’s genetic or not. They counsel FH and non-FH high cholesterol patients the same way, even though FH patients are at significantly higher risk of cardiovascular events.

Unfortunately, PCPs typically don’t have time to stay current on esoteric sub-specialities like genetics. So they aren’t aware that practice guidelines have evolved or that, in addition to LDL levels, it’s the lifelong exposure to high cholesterol that puts FH patients at significantly higher risk. Most incorrectly believe that all FH patients have ‘sky high” cholesterol levels and FH can be diagnosed on lipid levels alone. In reality, lipid levels in FH overlap with non-FH levels (The Overlap Problem). Importantly, by failing to diagnose FH, doctors also miss the opportunity to identify at risk family members, especially children. The earlier FH is diagnosed, the more lifetime risk approaches the risk of the general population.

In countries like the Netherlands and the U.K., national healthcare systems are incentivized for prevention, so there are programs to identify people with FH, and cascade screening programs for at risk family members have led to dramatic improvements in FH case identification. We have no such programs in the U.S., and even if we did, privacy laws and practical logistics limit American doctors’ ability to notify at risk family members.

Nordestgaard B G et al. Eur Heart J 2013;eurheartj.eht273

The Color solution

These are two of the key problems that Color set out to solve: in our present healthcare system we don’t identify individuals with FH, and even when we do it’s nearly impossible to notify at risk family members.

To begin with, we’ve removed many of the barriers to access to genetic information. Color’s physician-ordered test for FH costs $249 and includes genetic counseling. If you have high cholesterol and want to make sure it’s not due to FH, you can ask your doctor to order the test, or you can use our independent network of physicians. If you do test positive for FH, you’ll be invited to participate in Color’s Family Testing Program. We’ll also make it easy for you to share this information with your at risk family members, since each of them will have a 50% likelihood of having FH too. We further reduce barriers to access by offering your at-risk family the Hereditary Cholesterol Test for just $50.

No one cares about your health more than you. Cardiovascular disease is the leading cause of death in the US and it doesn’t have to be. Understanding, diagnosing and treating high cholesterol caused by FH is an important step towards improving heart health. With the Hereditary Cancer Test, Color is helping consumers be their own advocates and educate doctors about FH “from the outside in.”


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