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Tempted to have genetic testing? First ask why

Robert H. Shmerling, M.D., Harvard Health Blog on

Published in Health & Fitness

What about the costs of genetic testing?

Genetic testing may have more than one kind of cost. A genetic test ordered by your doctor for a specific medical reason may be covered by your health insurance, but it’s unlikely that an over-the-counter test will be. And, as one company states on its website, "knowing about genetic risks could affect your ability to get some kinds of insurance."

A study on testing for a genetic cholesterol disorder has some surprising results

A 2021 study published in the medical journal JAMA Cardiology demonstrates how direct-to-consumer testing may be misleading.

The researchers looked at genetic testing for familial hypercholesteremia. They compared the results from a comprehensive panel of genetic testing ordered by doctors (which included more than 2,000 gene variants) with results from the more limited genetic testing (24 variants) provided by 23andMe.

Among more than 4,500 people tested for a medical reason, such as evaluating an unexpectedly high cholesterol level, the more limited testing would have missed important genetic variants for:

 

This suggests that a large number of people would be falsely reassured by the results of their genetic tests for FH if they relied on the type of screening offered by a popular over-the-counter product. And results may be particularly unreliable among persons of color.

The bottom line

It’s true that you can’t pick your genes. But thanks to an ever-expanding menu of options, you can pick your tests. In many cases, it’s best to review your decision to have genetic testing with your doctor before having it done. You may choose to see a genetic counselor about the ramifications of testing before you jump in and let your doctor do the testing, rather than ordering it yourself. Or, you may decide the best plan is no testing at all.

(Robert H. Shmerling, M.D., is a senior faculty editor for Harvard Health Publishing.)

©2022 Harvard University. For terms of use, please see https://www.health.harvard.edu/terms-of-use. Distributed by Tribune Content Agency, LLC.

 

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