Top Things to Know: Direct-to-Consumer Genetic Testing for Cardiovascular Disease
Published: March 13, 2025
Prepared by Katherine A. Sheehan, PhD, Science and Medicine Advisor
- With the proliferation of direct-to-consumer genetic tests (DTC-GTs) available online, including genes that may influence CVD, more customers are using them and bringing the results to clinical consultations, yet the accuracy and reliability of these tests as well as their clinical usefulness remain in question.
- Because DTC-GTs are marketed directly to consumers and not intended for clinical use, regulatory oversight is limited or absent.
- DTC-GTs use both genotyping and sequencing techniques to analyze DNA, focusing on the presence or absence of single nucleotide polymorphisms (SNPs), which is cost effective but less comprehensive than the sequencing-based methods used in clinical laboratories.
- When sequencing-based tests are done, the results report genetic variants implicated in monogenic or mendelian disorders with standard nomenclature to indicate their effects: pathogenic, likely pathogenic, variant of uncertain significance, likely benign, and benign.
- A limitation of sequencing is that the pathogenicity of all variants may not be known, partly due to insufficient representation of diverse populations in the datasets.
- The types of health information that may be most useful from DTC-GTs include risk of monogenic disease, complex or polygenic disease, and gene-drug interactions (pharmacogenomics) that may inform the anticipated tolerance and metabolism of commonly prescribed medications.
- A clinical framework for the evaluation of DTC-GTs is essential to evaluate analytical and clinical validity, technical sensitivity and specificity for accurate genotyping.
- DTC-GTs usually will not definitively indicate that a disease will develop or exclude that it will not develop. False positives can lead to unnecessary diagnostic procedures or therapies, and false negatives or a test that doesn’t include all relevant variants can lead to false reassurance and foregoing evidence-based preventive, diagnostic, or therapeutic options.
- There are several ethical, legal, and social implications of DTC-GTs. Major concerns include the lack of genetic counseling, the potential for misinterpretation of results and their value, and the risk of loss of privacy. DTC-GT companies are not covered by the Health Information Portability and Accountability Act (HIPAA) of 1996, and GT companies may have consent forms that provide them with rights to their customer’s DNA information.
- Clinicians presented with DTC-GT results may find discussing the patient’s reasoning for pursuing the test and reviewing the test report helpful. The statement provides actionable suggestions for reviewing test results, discussing them with patients, and planning subsequent care.
Citation
Hull LE, Aday AW, Bui QM, Luzum JA, Muchira JM, Wand H, Chahal CAA, Chung MK, Kwitek AE, Molossi S, Natarajan P; on behalf of the American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Lifestyle and Cardiometabolic Health; and Council on Peripheral Vascular Disease. Direct-to-consumer genetic testing for cardiovascular disease: a scientific statement from the American Heart Association. Circulation. Published online March 13, 2025. doi: 10.1161/CIR.0000000000001304