More Complete Genetic Screening Benefits Cardiovascular Disease Patients

Samples were analyzed in a CAP/CLIA-certified laboratory, and results were returned to the ordering physician and uploaded to the electronic medical record.

Results revealed that 32% of participants received genetic information that impacted their clinical management. Of those participants, 11% were referred to a genetic specialist for further care. Out of all participants, 9% had an inherited pathogenic gene mutation associated with cardiovascular diseases such as cardiomyopathy and high cholesterol, and 9% had a high overall genetic risk score for developing cardiovascular disease. Among surveyed physicians, 84% reported initiating medical management changes based on these results, including specialist referrals, cardiac tests, and medication changes.

"This study shows that a large proportion of individuals in select ambulatory care clinics can benefit from genetic data," said senior author Dr. Richard Gibbs, professor of molecular and human genetics at Baylor College of Medicine. "There is tangible follow-up care for people who received a positive result, and in many cases for their family members."

The study was published in the August 6, 2021, online edition of the journal Genetics in Medicine.

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