Genetic testing differs from screening, but it can be a valuable tool for some families in which HCM is prevalent.
Genetic testing offers the opportunity for you to find out which of your genes is involved in your HCM. Once you have that information, your family members can undergo genetic testing to see if they also carry that specific gene.
An HCM gene doesn’t automatically cause HCM, but it does mean the carrier is at risk. “Unlike imaging tests, genetic testing can clarify which relatives are truly at risk and need ongoing heart evaluations, and which relatives are unlikely to develop the condition,” says Steitieh. If a person finds out they’re a carrier, they should see a cardiologist for HCM screening to determine whether they have the condition. If someone isn’t a carrier, they may be less likely to develop HCM.
If you or others opt into genetic testing, you’ll first meet with a genetic counselor to weigh the benefits and drawbacks of testing and what to expect when your results come in. If you decide to proceed with testing, you’ll give a blood or saliva sample that’s then sent to a lab. The lab will analyze the sample for HCM variants. From there, you’ll be notified about the results and discuss next steps with your genetic counselor.
The decision to undergo genetic testing is a personal one. Family members don’t need to have genetic testing in order to be screened for HCM. What’s more, not being a carrier doesn’t guarantee a person is safe from HCM.
“We have to understand its limitations, which is mainly that we don’t know every HCM disease-causing gene,” says Steitieh.
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