AHA issues recommendations on pediatric genetic testing for
The prevalence of clinical genetic testing is rising; therefore, the American Heart Association has issued guidance on the use, ethics and timing of pediatric genetic testing for heritable CVDs.

Published in Circulation: Genomic and Precision Medicine, the statement also addressed topics such as consent for pediatric genetic testing, pre- and post-testing family counseling and follow-up of CV genetic test results.

Recommendations for clinicians
The writing committee offered the following recommendations for pediatric CV genetic testing:

-- Comprehensive pre- and post-testing counseling should always be a component of heritable CVD risk prediction and ought to occur in or in partnership with a specialized multidisciplinary setting (adult and pediatric cardiologists, genetic counselors, geneticists, behavioral health specialists, etc).
-- Diagnostic genetic testing should only be considered among children with a high risk for CVD.
-- Children should undergo risk-predictive genetic testing only after identification of a pathogenic/likely pathogenic variant in a family member with CVD.
-- The timing of pediatric CV genetic testing should also account for disease-specific considerations such as disease penetrance, risk for pediatric disease presentation, availability of effective therapies or lifestyle modifications and risk for psychological distress to the family attributed to uncertainty.
-- Continued follow-up of pediatric CV genetic test results is important to reevaluate or confirm variant pathogenicity over time.

“Pediatric genetic testing has important considerations beyond those of adult testing, including the vulnerability of children as a population, and these considerations should be at the forefront of all decision-making about genetic testing,” researchers said in the release. “Other considerations include the dynamics within the child’s family, the family’s goals and concerns, potential psychosocial effects of testing (or not testing) and the current state of genetic testing methods. Additional factors to help inform the decision-making process to ensure the best outcomes for children and family members are the characteristics of the specific heritable cardiovascular disease, the likelihood and timing of disease development, the availability of therapies and interventions that can treat or prevent disease, and the availability and cost of testing.”

Source: https://www.ahajournals.org/doi/10.1161/HCG.0000000000000086
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