Genetic testsNot All Genetic Tests Convey Risk in the Same Way, Scientists Warn

Published 30 March 2020

Research presented virtually at the World Congress of Cardiology meeting over the weekend suggests that some direct-to-consumer or lab-based genetic tests may not convey the full risk of inherited disease. Scientists analyzed de-identified data from more than 14,000 patients who were referred to genetic testing for cardiomyopathy, an inherited condition that can lead to heart failure. Patients were subject to two different kinds of genetic sequencing, and the results were compared to a simpler genetic test that only screens for nine variants in two genes known to cause cardiomyopathy. If patients had been screened using the simpler test, 96% of the patients who actually had a risk for cardiomyopathy would have been falsely reassured that they didn’t have a such a risk. The scientists behind the study warn against relying on limited tests that paint an inaccurate picture.