LACK OF DIVERSITY IN GENE SAMPLES MAY CAUSE FALSE HCM DIAGNOSIS

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A recent study published in The New England Journal of Medicine concluded that individuals of African descent found to carry genes previously identified with HCM did not, in fact, have the disease.  Thus, the article highlighted the importance of including diverse populations when sequencing genomes for genetic diseases so as to avoid false diagnoses.

The New York Times also picked up this story, focusing its article on the negative repercussions that can result from a false positive genetic test for HCM.

In connection with the findings, National Public Radio interviewed three people, including Dr. Isaac Kohane, one of the researchers who published the findings of the lack of diversity in the HCM genetic panel, as well as New York City HCM patient Tarika Mingo.  Finally, NPR spoke to veteran HCM expert Dr. Barry Maron, who noted a potential concern that athletes may have been erroneously disqualified from sports participation solely on the basis of false positive genetic testing results.

LACK OF DIVERSITY IN GENE SAMPLES MAY CAUSE FALSE HCM DIAGNOSIS

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