Clinical Genetic Testing in Pediatric Cardiomyopathy: Is Bigger Better? - PubMed - NCBI

Clinical Genetic Testing in Pediatric Cardiomyopathy: Is Bigger Better? - PubMed - NCBI

Clin Genet. 2017 Mar 30. doi: 10.1111/cge.13024. [Epub ahead of print]

Clinical Genetic Testing in Pediatric Cardiomyopathy: Is Bigger Better?

Ouellette AC1, Mathew J2, Manickaraj AK1, Manase G1, Zahavich L1, Wilson J1, George K1, Benson L1, Bowdin S1, Mital S1.

Author information

Abstract

For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. Our objective was to assess the clinical utility of targeted versus panCMP panel testing in pediatric CMPs. 151 pediatric patients with primary hypertrophic (n = 66), dilated (n = 64), restrictive (n = 8), or left-ventricular non-compaction (n = 13) CMP who underwent clinical genetic panel testing at a single centre were included. PanCMP (n = 47) and targeted panel testing (n = 104) were compared for yield of pathogenic variants and variants of unknown significance (VUS). Pathogenic variants were identified in 26% of patients, 42% had indeterminate results (only VUS detected), and 32% had negative results. Yield was lower (15%) in panCMP vs. targeted panel testing (32%) (p = 0.03) in all CMP subtypes. VUS detection was higher with panCMP (87%) than targeted panel testing (30%) (p < 0.0001). PanCMP panel testing only identified pathogenic variants in genes that overlapped targeted panels. PanCMP testing did not increase diagnostic yield compared to targeted panel testing. Until accuracy of variant interpretation with panCMP panels improves, targeted panels may be suitable for clinical testing in pediatric CMP.

This article is protected by copyright. All rights reserved.

KEYWORDS:

Cardiology; Cardiomyopathy; Genetics; Pediatrics

PMID:

 

28369760

 

DOI:

 

10.1111/cge.13024

Last Posted: Apr 06, 2017

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