From Sequence to Surveillance: Making Sense of Secondary Findings in Inherited Arrhythmia and Cardiomyopathy Genes

Inherited cardiomyopathies are common conditions with estimated prevalence of 1 in 250. Inherited Arrhythmia conditions are rare with estimated prevalence of ~ 1 in 1000. Inclusion of these conditions in the ACMG secondary findings (SF) list was intended to identify individuals at increased risk that could benefit from early detection and treatment. However, these conditions have reduced penetrance and SFs are quite frequent. The risk assessment is not one-size fits all. What is the current data on the pathogenicity of variants detected incidentally? What is the best plan of care in the absence of expert consensus? This session is designed to inform the learner of where we started and where we are now in terms of personalized risk assessment and management.

Presented by:

NSGC Cardiogenetics SIG
Erin Miller, MS, CGC
Sarah Jurgensmeyer Langas, MS, CGC
Laura Zahavich, MSc, CGC

Learning Objectives: 

1. Apply clinical phenotype and family history to guide surveillance strategies for individuals with secondary findings in cardiac disease genes.
2. Identify key molecular, clinical, and family history indicators to guide genetic counseling for patients with secondary findings in genes associated with cardiomyopathy risks.
3. Understand and anticipate implications of secondary findings in inherited arrhythmia genes

Genetic Counselor CEUs: 

The National Society of Genetic Counselors (NSGC) has authorized the National Society of Genetic Counselors (NSGC) to offer up to .1 CEUs or 1 Category 1 contact hour for the activity, From Sequence to Surveillance: Making Sense of Secondary Findings in Inherited Arrhythmia and Cardiomyopathy Genes. The American Board of Genetic Counseling (ABGC) will accept CEUs earned by participating in this program for the purposes of genetic counselor recertification.

Successful Completion: 

1. View recording
2. Pass quiz
3. Complete evaluation