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Updated: Jun 27, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.

Justin Godown1,2, Emily H Kim1, Melanie D Everitt3

  • 1Division of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.

Pediatric Cardiology
|May 7, 2024
PubMed
Summary
This summary is machine-generated.

Pediatric cardiologists show varied approaches to interpreting genetic variants in children with cardiomyopathy. Standardizing genetic testing and counseling resources is crucial for consistent clinical decision-making in heritable heart conditions.

Keywords:
CardiomyopathyGenetic counselingGenetic testingPediatrics

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Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Genetic testing improves diagnosis of heritable cardiomyopathies.
  • Clinical integration of genetic information in pediatric cardiomyopathy remains unclear.

Purpose of the Study:

  • To assess variations in sequence variant classification interpretation among pediatric cardiologists.
  • To evaluate the availability of genetic testing and counseling resources in pediatric cardiomyopathy programs.

Main Methods:

  • An electronic survey was distributed to pediatric heart failure, cardiomyopathy, and heart transplantation physicians.
  • 106 providers from 68 centers responded between August and September 2022.

Main Results:

  • Genetic testing and counseling resources vary significantly across centers.
  • Few centers have formal processes for re-engaging patients upon variant reclassification.
  • Practices are uniform for pathogenic variants but variable for variants of uncertain significance.

Conclusions:

  • Incorporating genetic expertise can standardize interpretation and improve clinical decisions for pediatric cardiomyopathies.
  • Enhanced genetic resources are needed in pediatric cardiology practice.