Direct-to-Consumer Genetic Testing for Cardiovascular Disease: A Scientific Statement From the American Heart...

Area of Science:

• Cardiovascular Medicine
• Genetics
• Clinical Diagnostics

Background:

• Direct-to-consumer genetic testing (DTCGT) is increasingly prevalent, posing challenges for cardiovascular clinicians.
• Patients seek DTCGT for insights into cardiovascular disease risk and pharmacogenomic information.
• The clinical utility and interpretation of DTCGT remain areas of concern due to limited evidence.

Purpose of the Study:

• To provide a comprehensive overview of the DTCGT industry relevant to cardiovascular care.
• To guide clinicians in evaluating DTCGT quality, risks, and benefits.
• To offer resources for managing patient inquiries about DTCGT.

Main Methods:

• Review of the DTCGT marketplace evolution and oversight.
• Analysis of cardiovascular genetic information offered by DTCGT.
• Description of methods for assessing test quality and clinical applicability.

Main Results:

• The DTCGT market is expanding with diverse cardiovascular-related genetic information.
• Evidence supporting DTCGT for routine clinical care is currently insufficient.
• Clinicians need to critically assess DTCGT limitations and corroborate findings.

Conclusions:

• Cardiovascular clinicians must be prepared to address patient questions regarding DTCGT.
• Careful evaluation of DTCGT quality and patient-specific contextualization are essential.
• Potentially actionable monogenic findings from DTCGT require corroboration before clinical integration.