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Cost-effectiveness of paediatric rapid genomic testing: a commentary

W Weston1, H Garrett2, J Spencer3

  • 1Alder Hey Children's NHS Foundation Trust.

International Journal for Advancing Practice
|July 22, 2026
PubMed

Insights

Rapid genomic testing (RGT) offers early diagnosis for critically ill children, improving outcomes. Further research should address limitations in economic evaluations for wider RGT implementation in pediatric care.

Area of Science:

  • Genetics
  • Health Economics
  • Pediatric Medicine

Background:

  • Genetic disorders in children present complex clinical challenges, rapid deterioration, and high infant mortality rates.
  • Rapid genomic testing (RGT) offers a potential solution for early diagnosis and improved clinical management of pediatric genetic disorders.
  • Economic evaluations are crucial for assessing the value and implementation of new diagnostic strategies like RGT.

Purpose of the Study:

  • To critically appraise an existing economic evaluation of rapid genomic testing (RGT) strategies in Australian pediatric care.
  • To identify limitations in the current economic evaluation, specifically regarding time horizon and outcome measures.
  • To propose implications for practice and future research to strengthen the economic case for RGT.

Main Methods:

  • Critical appraisal of an existing economic evaluation of RGT strategies.
  • Analysis of the decision problem, perspective, model structure, costs, and interpretation of results.
  • Identification of limitations and formulation of recommendations based on recent RGT developments.

Main Results:

  • The reviewed economic evaluation appropriately defined the decision problem, perspective, and model.
  • Limitations were identified, including a short-term evaluation horizon and the omission of clinical and quality-of-life outcomes.
  • Recent developments in RGT and implementation factors were considered.

Conclusions:

  • Addressing limitations in economic evaluations, such as incorporating long-term outcomes and quality of life, will strengthen the case for RGT.
  • Facilitating RGT implementation requires considering accessibility, systemic coordination, practitioner education, and economies of scale.
  • RGT has the potential to become an integral part of the pediatric diagnostic toolkit with strategic implementation.

Keywords:
Genetic disorderscommentarycost-effectivenessgenomic medicinepaediatricsrapid genomic testing

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