Key result
Genetic testing and counseling remain essential for diagnosing HCM, distinguishing phenocopies, and enabling cascade screening.
Why the study?
Next-generation sequencing has made interpreting genetic data more complex, requiring geneticists and cardiologists to work together to diagnose HCM and address patient questions and concerns.
Appropriate communication and collaboration between cardiologists and geneticists are essential to maximize the clinical utility of genetic testing and counseling for patients with hypertrophic cardiomyopathy.
Supports multidisciplinary HCM care; leaves open optimal implementation of cascade testing protocols.
Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients.
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Girolami et al. (2023) conducted a review in Hypertrophic cardiomyopathy. Genetic testing and counselling was evaluated. Genetic testing and counselling are integral to diagnosing hypertrophic cardiomyopathy, distinguishing phenocopies, and enabling cascade testing, requiring close collaboration between specialists.
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