Genetic Testing Mistake Critical To Sudden Heart Death Diagnosis

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Genetic testing for certain heart conditions lacked key elements to determine it affects people, especially through genetic markers that has led to the deaths of some of those who were suffering from hypertrophic cardiomyopathy (HCM).

Genetic testing made mistakes

Surprisingly as it may seem, scientists have found that a mistake may have been responsible for HCM also known as sudden heart death, when conventional diagnostics failed to account for racial differences in the studies.

Published recently in the New England Journal of Medicine, the disease is believed to have more implications rather than just considered as an inherited disease. The also cautioned that this may bode the same for other illnesses that may be diagnosed through genetic testing.

HCM got into the spotlight back in the early 80’s when some healthy athletes, including basketball star Hank Gathers, suddenly died from this condition. Experts found that Gathers and the rest were positive of the condition and concluded that it was generally passed on through the genes.

Much more complicated

Things, however, took a sudden turn when scientists realized that there is something more to HCM than just an inherited disease, but they also claim that the genes controlling it depend on certain mutations that were not identified through the conventional diagnostic tests.

They claim that any one of about a dozen gene types can be damaged that could lead to illness and could even result to different mutations in which these diseases could be passed on.

Another surprising development was that some of the variants tagged as harmful were actually found to be benign.

“We saw that the variants that were ostensibly causing disease seemed to add up to much more than one in 500,” says Dr. Isaac Kohane of the Harvard Medical School, whose team conducted the study.

Because of the lack of properly adding African Americans to be part of the control group, scientists were stumped in realizing their mistake which is a crucial factor to help determine the onset or development of the disease.

Scientists are also hoping to make the study benefit the medical community and to find the means to treat this condition and what tell-tale signs to look out for.

“Is HCM one of these diseases you either have or you don’t?” Kohane asks. “Or is it like almost everything else we’re coming to learn about, where it’s a matter of degree.”

“It just turns out that the genome is as complicated and as unique as each one of us,” Kohane added.

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