Unwitting Geneticist Discovers Her Own Cardiomyopathy Gene: Heidi Rehm’s Story

Dr. Heidi Rehm is a human geneticist and clinical laboratory director at Harvard Medical School who has spent much of her career studying the genetics of cardiomyopathy.

Imagine her surprise when she found out that she, her mother and her daughter all have a mutation in the MYH7 gene which has been associated with dilated cardiomyopathy!

The unexpected revelation came as an indirect result of a visit to her daughter’s orthodontist.  When one of her daughter’s teeth was delayed coming in, the orthodontist suggested that there might be a genetic cause for the late tooth.  This provided the idea behind her high school daughter’s summer biology research project: 2 weeks in her mom’s lab sequencing her exome, looking for a genetic cause for her delayed tooth.

Though the mouth genetics turned out to be normal and the tooth eventually arrived, an totally unexpected incidental finding turned up instead:  a variation in the MYH7 gene which has been associated with dilated cardiomyopathy.

Once the abnormality was identified, Rehm tested herself and both of her parents.  The MYH7 gene also turned up in Rehm and her mother, though none of Rehm, her mother or her daughter exhibit any signs or symptoms of cardiomyopathy.

When asked by Genome magazine if she regretted knowing of the mutation, Rehm responded:

“I think I’d rather be informed and understand my risks and take appropriate actions  than not be aware of [those risks]. So I think it was the right decision.”

While Rehm underwent clinical cardiac testing which she plans to continue both for herself and her daughter, she is comforted by the fact that there is no family history of cardiomyopathy and that her mother, age 75, shows no signs of disease.

Rehm did, however, raise concerns about the impact of the information as it relates to her daughter’s privacy, and as it might affect her daughter’s future employment. She also worries about the potential for it to negatively impact her daughter’s ability to obtain various types of insurance over her lifetime.

The election of Donald Trump also presents a concern for Rehm because Trump has pledged to repeal the Affordable Care Act, commonly referred to as “Obamacare.”  The Affordable Care Act has made it unlawful to deny health insurance to a person due to a pre-existing medical condition.  It also abolished lifetime caps which are often used to deny health insurance coverage to people who require expensive, continuing care due to chronic health conditions, such as cardiomyopathy.

Ultimately, however, Rehm’s ultimately goal is to advance our understanding of genetics not only for the benefit of her and her family, but also for society.  It is for this reason that she helped design a computer database to enable genetics labs to share information which can help them to define and explain mutations of unknown significance.

As Rehm states, this collection and information sharing is important for all of us so that we can benefit from the genetic information available today.

“The more we can collect full genomic data sets on everyone with this variant, then maybe we can start to understand why I might or might not be at risk but others are [or aren’t]. I see it as a platform to advance an agenda that I think is in the best interests of both the broader population and those of my daughter, my mother, and myself. “

HCMBeat wishes the best to Dr. Rehm and her family in the future, and would like to thank her for sharing her family’s story and for her work in this area.  Her story reminds us that we are only in the infancy of genetics and we still have much to learn.

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