Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study

Area of Science:

• Cardiovascular Genetics
• Medical Genomics
• Population Genetics

Background:

• Clinical utility of genetic testing for heritable cardiomyopathies and arrhythmias requires definition.
• Genetic landscape of these conditions in the French-Canadian population is unknown.
• Founder effect complicates genetic variant interpretation.

Purpose of the Study:

• Evaluate clinical utility of arrhythmia and cardiomyopathy genetic testing.
• Assess the value of local allele frequency data for variant interpretation.

Main Methods:

• Included 2,062 probands with suspected inherited heart conditions.
• Analyzed genetic testing results and clinical data.
• Compared variant prevalence in cases versus a local population cohort.

Main Results:

• Identified pathogenic/likely pathogenic variants in 24% (496/2,062) of probands.
• Reclassified 9 variants using local population data.
• Diagnostic refinement impacting clinical management occurred in 8% (168/2,062) of cases.

Conclusions:

• Genetic testing has a high yield for identifying disease-causing variants in inherited heart conditions.
• Local allele frequency data enhances variant interpretation and classification.
• Genetic testing results influence clinical management and family screening.