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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action,

Erin Tutty1,2, Alison D Archibald1,2,3, Lilian Downie2,3

  • 1Murdoch Children's Research Institute, Melbourne, VIC, Australia.

European Journal of Human Genetics : EJHG
|June 21, 2024
PubMed

Insights

Genomic newborn screening (gNBS) can expand public health benefits by identifying more conditions. Key actions include educating providers and offering psychosocial support, while addressing consent and result disclosure are crucial for successful implementation.

Area of Science:

  • Genomics
  • Public Health
  • Pediatrics

Background:

  • Newborn screening (NBS) is a vital public health intervention.
  • Genomic sequencing (gNBS) can enhance NBS by screening for more conditions.
  • Implementation strategies for gNBS require careful planning.

Purpose of the Study:

  • To identify necessary actions, actors, context, timing, and targets for genomic newborn screening (gNBS).
  • To explore perceived barriers and enablers for implementing gNBS.
  • To inform population-scale delivery of gNBS.

Main Methods:

  • Utilized the Actor, Action, Context, Time, and Target (AACT) framework.
  • Conducted interviews with 20 key informants involved in NBS delivery.
  • Analyzed data to identify required modifications and new actions for gNBS.

Main Results:

  • New actions include educating healthcare providers and providing psychosocial support.
  • Modifications needed for obtaining consent and timing of result disclosure.
  • Genetic counselor workforce limitations pose a potential barrier, while online tools are enablers.

Conclusions:

  • Successful gNBS implementation requires behavior change from healthcare providers.
  • Addressing consent and result disclosure timing is critical for gNBS programs.
  • Findings provide a roadmap for scaling gNBS delivery effectively.

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