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Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study

Michael P Mackley1, Salma Shickh2, Whiwon Lee2,3

  • 1Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto.

Paediatrics & Child Health
|February 3, 2026
PubMed

Insights

Genomic sequencing (GS) can help diagnose genetic disorders faster if paediatric subspecialists can access it. Strategies are needed to overcome barriers like resources and training to improve access for these specialists.

Area of Science:

  • Genetics
  • Healthcare Implementation Science
  • Paediatric Medicine

Background:

  • Genomic sequencing (GS) is crucial for diagnosing genetic disorders but access is often limited to medical geneticists.
  • Empowering paediatric subspecialists to utilize GS can accelerate diagnosis and alleviate the burden on genetics-focused care models.
  • Data is lacking to guide the development of effective implementation strategies for broader GS access.

Purpose of the Study:

  • To explore barriers and facilitators to expanding genomic sequencing access for paediatric subspecialists.
  • To inform the development of targeted implementation strategies to empower paediatric subspecialists in utilizing GS.

Main Methods:

  • Semi-structured interviews were conducted with 13 paediatric subspecialists (neurologists, developmental paediatricians) and 9 genetics practitioners in Ontario, Canada.
  • The interview guide was informed by the Consolidated Framework for Implementation Research.
  • Interviews were transcribed, coded inductively, and analyzed thematically.

Main Results:

  • Key facilitators included a perceived need for change, clinician motivation, and existing analogous infrastructure.
  • Identified barriers encompassed logistical challenges (resource investment), cognitive hurdles (need for upskilling and support), and cultural issues (role clarification, trust-building).

Conclusions:

  • Implementation strategies must leverage identified facilitators and mitigate barriers to enhance paediatric subspecialist readiness for GS.
  • Evaluating new models is essential to ensure they meet the needs of paediatric subspecialist users and realize the full value of GS for patients.
Abstract

Keywords:
Genetic testingclinical geneticsgenomic sequencinggenomic testingmainstreamingpaediatriciansservice delivery models

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