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Doctors increasingly rely on genetic testing to help diagnose a patient’s illness or risk of getting a disease. Now a new study warns of the potential for the technology to lead to misdiagnosis.
The study looked at gene mutations previously linked to the genetic heart condition called hypertrophic cardiomyopathy and found that some patients may be at risk of being falsely diagnosed with the disease because some of the mutations are no longer considered a cause for concern.
The study was led by a team at Harvard Medical School that examined publicly available sequencing data, information in the published medical literature, and clinical records for patients tested for hypertrophic cardiomyopathy at a leading genetics lab. The researchers were particularly interested in looking at gene mutations once believed to cause hypertrophic cardiomyopathy that have since been classified as benign.
Hypertrophic cardiomyopathy is best known as a cause of sudden death in young athletes. Being misdiagnosed with the condition can have major ramifications for patients and their family members.
