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Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy

Linda M Knight1, Erin Miller2, Joshua Kovach3

  • 1Children's Healthcare of Atlanta, Atlanta, Georgia.

Heart Rhythm
|June 24, 2019
PubMed

Insights

Cascade screening for inherited heart conditions like LQTS and HCM shows high family participation. However, family decisions, not insurance, are the main barriers, while combined genetic and cardiology screening offers the highest detection yield.

Area of Science:

  • Cardiovascular Genetics
  • Genetic Screening
  • Inherited Cardiac Conditions

Background:

  • The effectiveness of cascade screening for inherited heart conditions, specifically long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM), requires further characterization.
  • Understanding screening efficacy is crucial for managing these potentially life-threatening genetic disorders.

Purpose of the Study:

  • To investigate the utilization and yield of genetic testing and cascade screening for LQTS and HCM across diverse US regions.
  • To identify obstacles hindering cascade screening within multipayer healthcare systems.

Main Methods:

  • A retrospective chart review was conducted across six US pediatric centers from 2008-2014.
  • Data collected included genetic test completion and results for index patients and their families, alongside cascade screening acceptance, methods, outcomes, and identified barriers.

Main Results:

  • 75% of families accepted cascade screening, with a 39% yield of positive relatives (0.91 detected per family).
  • Screening participation was significantly higher in families with gene-positive index patients (88%) compared to gene-negative (53%).
  • Combined genetic and cardiology screening yielded the highest detection rate (57%), though cardiology-only was most utilized (45%). Family-related issues (declined, lack of follow-through) were the primary barriers (52% combined).

Conclusions:

  • High family participation in cascade screening is achievable, but family-mediated factors are the most significant barriers.
  • Positive genetic testing in the proband increases screening participation.
  • While cardiology-only screening is common, integrated genetic and cardiology approaches maximize detection of inherited cardiac conditions.
Abstract

Keywords:
Cascade screeningHypertrophic cardiomyopathyLong QT syndromePrecision medicineSudden death

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