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Principles of Pharmacogenetics: Types of Genetic Variants

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing.

Melanie Care1, Laura Arbour2, Liam R Brunham3

  • 1Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

The Canadian Journal of Cardiology
|December 18, 2025
PubMed
Summary
This summary is machine-generated.

This clinical practice update guides integrating genetic testing for inherited cardiovascular conditions in Canada. It offers strategies to improve early detection, risk stratification, and patient outcomes through enhanced care pathways and provider training.

Keywords:
arrhythmiacardiogeneticscardiomyopathygeneticinheritedsequencing

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Area of Science:

  • Cardiovascular Medicine
  • Medical Genetics

Background:

  • Inherited cardiovascular conditions require genetic testing for accurate diagnosis and management.
  • Current specialized care models face challenges with increasing demand and limited resources.
  • Integrating genetic testing into broader clinical practice is essential for improved patient and family outcomes.

Purpose of the Study:

  • To provide guidance on integrating genetic testing for inherited cardiovascular conditions into Canadian clinical practice.
  • To outline strategies for enhancing cardiogenetics expertise and literacy among healthcare providers.
  • To examine different clinical care models and address implementation challenges.

Main Methods:

  • Review of current clinical practice and literature on genetic testing for inherited cardiovascular conditions.
  • Analysis of various care delivery models (e.g., genetics clinics, multidisciplinary clinics, mainstreaming, hub-and-spoke).
  • Identification of key implementation challenges and development of practical recommendations.

Main Results:

  • Foundational steps include establishing expertise networks and clarifying testing indications.
  • Various care models present distinct strengths and barriers within the Canadian healthcare context.
  • Addressing challenges like variant interpretation, consent, and cascade testing is crucial.

Conclusions:

  • Strategic planning, professional training, and equitable resource allocation are vital for managing increased demand.
  • Collaborative, interdisciplinary networks are key to successful integration.
  • This update supports clinicians and administrators in routine cardiogenetic testing for better outcomes and equity.