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Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable

Joon-Ho Yu1, Katherine E MacDuffie2, Olivia Sommerland3

  • 1University of Washington, Department of Pediatrics, Division of Genetic Medicine, Seattle, WA, USA; University of Washington, Institute for Public Health Genetics, Seattle, WA USA; Department of Pediatrics, Division of Bioethics and Palliative Care, University of Washington, Seattle, WA, USA; Seattle Children's Hospital and Research Institute, Seattle, WA, USA.

HGG Advances
|June 5, 2025
PubMed

Insights

Whole-genome sequencing (WGS) provides a direct path to precise genetic diagnoses for rare childhood conditions. However, provider perceptions of families can delay WGS access, impacting equitable healthcare delivery.

Area of Science:

  • Genetics
  • Pediatrics
  • Healthcare Access

Background:

  • Whole-genome sequencing (WGS) is a powerful diagnostic tool for rare genetic conditions in children.
  • Equitable access to genetic services, including WGS, is limited by various structural and social factors.
  • Disparities in access can stem from interactions between families, healthcare providers, and institutions.

Purpose of the Study:

  • To identify barriers and inform strategies for improving equitable access to precise genetic diagnoses (PrGD) through WGS.
  • To understand the perspectives of neonatologists and neurodevelopmental (NDV) providers regarding WGS implementation.
  • To explore how provider perceptions influence the introduction of WGS to families.

Main Methods:

  • Conducted semi-structured key informant interviews with 19 neonatologists and NDV providers.
  • Interviewees were involved in referring families to the SeqFirst study for WGS.
  • Qualitative data analysis to identify themes related to WGS access barriers.

Main Results:

  • Providers expressed enthusiasm for offering WGS despite varying medical contexts.
  • Key considerations influencing WGS introduction included perceptions of family capacity, readiness, and trust.
  • Provider-family rapport was also a significant factor in the timing and delivery of genetic testing information.
  • Findings suggest that providers' perceptions of families may lead to delayed WGS implementation.

Conclusions:

  • Provider perceptions of families and their social contexts present challenges and opportunities for WGS implementation.
  • Strategies are needed to promote and maximize equitable access to WGS for all children needing a precise genetic diagnosis.
  • Addressing provider biases and improving provider-family interactions are crucial for equitable WGS delivery.

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