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27 Oct 2021 - 29 Oct 2021

More Complete Genetic Screening Benefits Cardiovascular Disease Patients

By LabMedica International staff writers
Posted on 17 Aug 2021
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Image: Gross pathology of idiopathic cardiomyopathy. Opened left ventricle of heart shows a thickened, dilated left ventricle with subendocardial fibrosis manifested as increased whiteness of endocardium (Photo courtesy of [U.S.] Centers for Disease Control and Prevention)
Image: Gross pathology of idiopathic cardiomyopathy. Opened left ventricle of heart shows a thickened, dilated left ventricle with subendocardial fibrosis manifested as increased whiteness of endocardium (Photo courtesy of [U.S.] Centers for Disease Control and Prevention)
Results of a pilot study suggested that information obtained by comprehensive genetic testing would benefit treatment of patients suffering from a wide range of cardiovascular diseases.

Investigators at Baylor College of Medicine (Houston, TX, USA) reported creating a “HeartCare” panel that provided DNA sequences for 158 genes associated with medically actionable cardiovascular conditions along with a genetic risk score for developing cardiovascular disease and genetic data on drug interactions.

The HeartCare panel was used as the basis for assessing 709 individuals from cardiology clinics at Baylor College of Medicine. 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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Baylor College of Medicine


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