Top Things to Know: Genetic & Genomic Testing in Cardiovascular Disease

The goal of this statement is to articulate the position of the American Heart Association in key areas of public policy regarding genetic (one or more genes) and genomic (coding and non-coding genome) testing. This paper updates a previous AHA Policy Statement published over a decade ago and addresses expanding issue areas around genetic and genomic testing.

1. Access and Implementation for All:
   The AHA emphasizes the importance of access to genetic and genomic testing for all populations. This is crucial for advancing precision medicine and addressing health disparities.
2. Regulatory Oversight:
   Due to the complexity of genetic testing and its interpretation, testing requires regulatory oversight by an authority capable of fully evaluating both analytical validity and especially clinical validity. The effort from the relevant regulatory agencies should be appropriately resourced and have sufficient authority to ensure efficient test reviews while maintaining access to tests that have established clinical validity. This is critical to prevent regulation role from becoming a barrier to genetic testing access and innovation. Also, the Genetic Information Non-discrimination Act (GINA) of 2008 needs to be updated to protect against discrimination in life, disability, and long-term care insurance.
3. Data Privacy and Sharing:
   The policy underscores the importance of informed consent, privacy protections, and ethical data stewardship in genetic testing. Transparency about the use of health information and biological specimens is crucial.
4. Reimbursement for Genetic Counseling:
   The AHA advocates for Medicare, Medicaid, and private insurers to cover genetic counseling services, including telehealth options, to ensure all patients with cardiovascular disease have access to these services.
5. Biobanking and Genomic Research:
   Strategic investments in biobanking and large-scale genomic studies are essential for advancing the field. These resources help improve the interpretation of genetic variants and enhance risk prediction models.
6. Pharmacogenomics:
   The policy highlights the growing role of pharmacogenomics in optimizing medication use based on genetic information. Despite its potential, there are still barriers to widespread implementation, including the need for more data and better education for healthcare professionals.
7. Precision Public Health:
   Integrating genomics with other data sources, such as social drivers of health, can improve disease prevention and treatment on a population level. This approach aims to deliver the right interventions to the right populations at the right time.
8. Artificial Intelligence (AI) in Genomics:
   AI technologies are beginning to transform cardiovascular genomics by enhancing data analysis and predictive models. However, challenges remain, including the need for diverse datasets and robust privacy protections.
9. Training and Professional Education:
   There is a significant need for ongoing education and training for healthcare professionals in genomics. The AHA supports the development of comprehensive educational programs to ensure clinicians are well-prepared to integrate genetic testing into clinical practice.
10. Ethical Considerations in Genome Editing:
    Advances in genome editing and gene therapy present both opportunities and ethical challenges. The policy statement calls for careful consideration of long-term safety, equitable access, and the ethical implications of these technologies.