Heart Podcast Modern genetics in cardiology
May 6, 2025
Professor Philippe Charron, a leading expert at Pitié-Salpêtria Hospital in Paris, sheds light on the intricate dance between genetics and heart health. He delves into the nuances of monogenic versus complex hereditary disorders, addressing the hurdles cardiologists face in accurate diagnoses. The importance and ethics of genetic testing take center stage, revealing how next-generation sequencing can transform patient care. With costs and accessibility as key concerns, Charron advocates for better integration of genetic testing in cardiology to enhance treatment and family health.
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Two Main Genetic Cardiovascular Categories
- Cardiovascular genetic diseases split into Mendelian and complex multifactorial types.
- Mendelian variants alone cause disease; multifactorial need multiple factors with small effects.
Genetic Testing Principles
- Integrate genetic testing into genetic counseling considering psychosocial, familial, and legal impacts.
- Ensure patient autonomy, informed consent, confidentiality, and respect the right to know or not.
Best Practices for Genetic Testing
- Use next-generation sequencing panels focused on disease-related genes first.
- Interpret variants carefully, only pathogenic or probably pathogenic variants confirm causality.