What question did this study set out to answer?

To evaluate the clinical diagnostic yield of molecular genomic sequencing in identifying the genetic etiology of congenital cardiac defects in pediatric patients.

January 25, 2018Molecular Genetics & Genomic MedicineOpen Access

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

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Why the study?

Does genomic sequencing improve the diagnostic yield of genetic etiologies in pediatric patients with congenital cardiac defects?

Population

34 neonatal and pediatric patients born with a congenital cardiac defect and their parents

Design

Cohort

Authors

NHNatalie HauserInova Fairfax Hospital BSBenjamin D. SolomonNational Human Genome Research Institute TVThierry VilbouxInova Health System

Discussion

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Implication

Supports genetic testing across pediatric CVD subtypes; extends yield data favoring genome over exome sequencing in syndromic cases.

Key Points

To evaluate the clinical diagnostic yield of molecular genomic sequencing in identifying the genetic etiology of congenital cardiac defects in pediatric patients.
Analyzed exomized preexisting whole genome sequencing (WGS) data from 34 neonatal and pediatric patients with congenital cardiac defects and their parents.
Modeled clinically available exon-based sequencing to detect candidate variants in previously reported cardiac-related genes.
Candidate variants in known cardiac-related genes were identified in 35% (12/34) of probands.
Pathogenic variants were confirmed in 6% (2/34) of patients, while variants of uncertain significance occurred in 26% (10/34), with two segregating with clinical findings in family trios.

Structured PICO

Does genomic sequencing improve the diagnostic yield of genetic etiologies in pediatric patients with congenital cardiac defects?

Population

34 neonatal and pediatric patients born with a congenital cardiac defect and their parents

Intervention

Exomized preexisting whole genome sequencing (WGS) data to model clinically available exon-based tests

Outcome

Identification of candidate variants in previously reported cardiac-related genessurrogate

Genomic sequencing identifies genetic etiologies in a subset of pediatric patients with congenital heart defects, but the diagnostic yield (35% candidate, 6% pathogenic) is currently too low for routine clinical screening.

Cite This Study

Hauser et al. (2018) studied this question.

synapsesocial.com/papers/6a9254703eb7c78f2e41e51e https://doi.org/10.1002/mgg3.357

Topics

Congenital heart disease adults

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Topics

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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Topics

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