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

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.