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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

A C Ouellette1, J Mathew2, A K Manickaraj1

  • 1Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Clinical Genetics
|April 4, 2017
PubMed

Insights

For pediatric cardiomyopathy genetic testing, targeted gene panels show higher diagnostic yield than expanded (panCMP) panels. Expanded panels identified more variants of unknown significance (VUS) without increasing pathogenic variant detection.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Clinical genetic testing for cardiomyopathy (CMP) lacks guidelines on optimal gene panel selection.
  • Current options include phenotype-specific targeted panels versus expanded (panCMP) panels covering multiple CMP subtypes.

Purpose of the Study:

  • To evaluate the clinical utility of targeted versus panCMP genetic panel testing in pediatric patients with cardiomyopathy.

Main Methods:

  • A cohort of 151 pediatric patients with hypertrophic, dilated, restrictive, or left-ventricular non-compaction CMP was analyzed.
  • Clinical genetic panel testing data from targeted panels (n=104) and panCMP panels (n=47) were compared.
  • Key metrics included yield of pathogenic variants and variants of unknown significance (VUS).

Main Results:

  • Pathogenic variants were found in 26% of patients; 42% had VUS only, and 32% had negative results.
  • Targeted panel testing yielded a higher rate of pathogenic variants (32%) compared to panCMP testing (15%) (P = .03).
  • PanCMP panels detected significantly more VUS (87%) than targeted panels (30%) (P <.0001).

Conclusions:

  • Expanded (panCMP) panel testing did not improve diagnostic yield for pediatric cardiomyopathy compared to targeted panels.
  • Targeted gene panels may be sufficient for clinical genetic testing in pediatric CMP until panCMP variant interpretation improves.
Abstract

Keywords:
cardiologycardiomyopathygeneticspediatrics

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