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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

Robin Z Hayeems1,2, Jasmin Bhawra3, Kate Tsiplova4

  • 1Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada. robin.hayeems@sickkids.ca.

European Journal of Human Genetics : EJHG
|November 22, 2017
PubMed

Insights

Whole-genome sequencing (WGS) in children with developmental delay prompts more specialist visits than chromosome microarray (CMA), but fewer lab tests. Downstream care costs are generally low, guiding tailored treatments.

Area of Science:

  • Genomics
  • Pediatric Medicine
  • Healthcare Economics

Background:

  • Whole-genome sequencing (WGS) is increasingly used in pediatrics.
  • Its impact on healthcare activities and costs compared to chromosome microarray (CMA) needs evaluation.
  • Understanding downstream care is crucial for optimal genomic testing implementation.

Purpose of the Study:

  • To compare healthcare activities and costs following pediatric WGS versus CMA in children with developmental delay.
  • To analyze how WGS results (diagnostic vs. non-diagnostic) influence downstream care.
  • To assess the economic implications of WGS in complex pediatric cases.

Main Methods:

  • Prospective study of 101 children with developmental delay over one year.
  • Ascertainment and costing of healthcare activities prompted by WGS and CMA.
  • Comparative analysis of activities and costs between WGS and CMA, considering WGS result status.

Main Results:

  • Ongoing care constituted the majority (88.6%) of post-test activities.
  • CMA prompted more laboratory tests (0.55 vs. 0.09; p=0.007), while WGS prompted more specialist visits (0.41 vs. 0; p=0.016).
  • WGS results significantly modified the number of activities (p<0.001); diagnostic WGS led to tailored care, while CMA prompted further investigations.

Conclusions:

  • WGS in pediatric care shifts focus from broad investigations to targeted management based on genotypic findings.
  • Downstream healthcare activity costs prompted by WGS are typically low for most patients.
  • Effective integration of WGS requires careful evaluation of its downstream care and cost consequences.

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