Genetic Testing for Hereditary Heart Disease

“Consumer DNA Tests Are Wrong 40 Percent of the Time” said an article on which was published on April Fool’s day. Unfortunately, it wasn’t a joke. Turns out that a company called Ambry Genetics published a paper on Nature a few weeks ago which revealed “a high false-positive rate (40%) in genes with potential clinical impact in the raw genotyping data provided to consumers by DTC genetic testing companies, as well as eight instances of misinterpretation of variants by third-party interpretation services“. In other words, 40% of the raw genetic data given to the customer didn’t reflect what they were told by the test provider. If you’re wondering why Ambry Genetics cares, it’s because they’re a privately-held company that offers “the industry’s most comprehensive suite of genetic testing solutions, benefiting 90% of all U.S. patients covered by public and private insurers“. Showing how others in your space suck is an excellent way to demonstrate some thought leadership.

You can’t just take any old test at face value, so we had one of our MBAs take a look at the study after which she said the first cause for concern was the low number of participants (n = 49), and the overrepresentation of females and Jewish people:


Unless you live in “New Yawk”, the above is not even close to a representative sample of the population. Of course, it might be representative of the type of people who take these studies (there are in fact, special genetic tests for Jewish people), but that’s not really the point we wanted to make here. The point is that 40% of these people were given raw genetic data that did not match what they were told. That’s the “false positives” you see in the below pie charts:


Essentially it means that people who don’t have an “increased risk” are told that they do. Talk about all kinds of worry over nothing. If you’re wondering which test providers are being called out here, Ambry Genetics is playing nice and won’t name names.

In light of this news, test providers will be scrambling to assure customers that their genetic testing results are accurate, and some may even adopt a second validation from a third-party provider for “positives” in order to give the customer a peace of mind. That’s why when a public relations associate emailed us to say that Color Genomics is selling a Hereditary Heart Health Test for $249, we decided to take a closer look at just what that entails. We wanted to answer the question, “is genetic testing for heart disease a good idea?”

We first wrote about Color Genomics this past February in our article on “Hereditary Cancer Tests from Color Genomics“. Now they’re offering a similar test for heart disease that will “analyze 30 genes that contribute to the structure and rhythm of a healthy heart.” That’s because “knowing if you carry a mutation in one of these genes lets you work with your doctor to create a plan for early detection and prevention of potentially serious heart events.”

The first question we have is just how common are hereditary heart conditions? According to Color Genomics, “1 in 200 people have a heart condition with a genetic basis” yet “one third of all US adults will develop heart disease during their lifetime”:

Source: Color Genomics

That’s because Americans eat too much drive-through food and think “big is beautiful” when it’s anything but. If you weigh more than 250 pounds, you should probably sort out your weight risk because you’re already facing a 1 in 3 chance of getting heart disease. If you drink too much (raises hand), or smoke too much marijuana (raises hand again), then spend that $249 on rehab instead of taking a punt on the 1 in 200 chance you might have a genetic heart condition.

Since many countries in Asia have already sorted out the “healthy diet / exercise / weight management” thing, these markets might be a more suitable place to sell this type of stuff. The Chinese love gambling, and that’s exactly what you’d be doing by plonking down $249 with a 199 out of 200 chance the results will be negative. Of course, based on the questions of “accuracy” we raised at the beginning of this article, that number could be higher.

Now let’s get back to the question we raised earlier – is genetic testing for heart disease a good idea? The answer is yes, but only under the following conditions:

  • You have sorted out any drinking or drug use hard drug use
  • You are not overweight (check here)
  • You have no other urgent use for $249 at the moment

Of course, we can also expect to see other test providers enter the “genetic testing for hereditary heart disease” game. Some already have, like Pathway Genomics and their Cardiac DNA Insight test which will set you back $399 and tests 23 genes. Here’s a sample report if you’re interested.

If there aren’t other test providers out there who offer genetic testing for heart disease, there will be. There are no barriers to entry. The American College of Medical Genetics and Genomics maintains a list of genes that are “high-impact and actionable“, which is what Color Genomics based their test offering on. Other test providers who are doing hereditary cancer testing will already have the infrastructure in place needed to begin offering a genetic test for hereditary heart disease. There’s a 1 in 200 chance that you’ll regret not taking one of these so get yourself sorted.

You can pick up a Color Genomics “Genetic Test for Inherited Heart Condition Risk” test right now on Amazon for $249. If you just want to analyze your BRCA1 and BRCA2 genes (associated with an increased risk for hereditary breast and ovarian cancer), that’s on sale now for just $99.

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