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Genetic Testing among Children in a Complex Care Program

Krista Oei1,2, Robin Z Hayeems3,4, Wendy J Ungar5,6

  • 1Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada. krista.oei@mail.utoronto.ca.

Children (Basel, Switzerland)
|May 23, 2017
PubMed

Insights

Genetic testing in complex care programs (CCPs) often fails to diagnose conditions. Children without a genetic diagnosis undergo more tests over longer, costlier periods, highlighting the need for advanced genomic sequencing.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Complex care programs (CCPs) serve children with intricate health needs.
  • The diagnostic yield of genetic testing in CCPs remains largely uncharacterized.
  • Understanding genetic testing patterns is crucial for evaluating new genomic diagnostic tools.

Purpose of the Study:

  • To determine the proportion of children in CCPs with undiagnosed genetic conditions.
  • To analyze the duration, types, and costs associated with genetic testing in this population.
  • To assess the diagnostic efficiency of current genetic testing strategies.

Main Methods:

  • Retrospective analysis of 420 children in a CCP from 2010-2014.
  • Detailed examination of genetic testing data for 63 children (20% sample).
  • Comparison of testing characteristics between diagnosed and undiagnosed children.

Main Results:

  • 48% of tested children received a genetic diagnosis.
  • Children without a diagnosis underwent more tests (median 6 vs. 3) and sequence-level tests.
  • Undiagnosed children experienced longer testing periods (median 4.12 years vs. 0.35 years) and higher costs (median C$8496 vs. C$2614).
  • 52% of children remained undiagnosed after genetic testing.

Conclusions:

  • Current genetic testing approaches have limited diagnostic yield in children within CCPs.
  • A significant proportion of children in CCPs remain undiagnosed despite extensive testing.
  • Integrating genome-wide sequencing could enhance diagnostic efficiency and outcomes for this population.

Keywords:
children with medical complexitycomplex caregenetic testinghealth care utilization

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