Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study

Area of Science:

• Genomics
• Public Health
• Healthcare Systems

Background:

• Population-based genomic sequencing shows promise for early disease detection.
• Integrating large-scale genomic newborn screening (gNBS) into complex healthcare systems presents significant challenges.
• Understanding the implementation process is crucial for successful gNBS programs.

Purpose of the Study:

• To investigate the integration of genomic newborn screening (gNBS) into the Australian health system for scalable delivery.
• To identify key modifications needed for effective gNBS implementation at scale.

Main Methods:

• Utilized a research design informed by process mapping and phenomenology within the BabyScreen+ study.
• Conducted 51 semi-structured interviews with parents, healthcare providers, and study team members.
• Analyzed operational team meeting minutes and developed process maps to track changes.

Main Results:

• A six-stage baseline process map was developed: awareness, offer, consent, sample collection, testing, and result management.
• Most modifications occurred during awareness, sample collection, and testing stages.
• Four critical areas for modification were identified: public/provider awareness, consent flexibility, automation infrastructure, and referral pathways.

Conclusions:

• Successful large-scale genomic newborn screening requires addressing system-level considerations.
• Key modifications include enhancing awareness, improving consent processes, developing automation, and establishing dedicated referral pathways.
• These findings provide a foundation for implementing gNBS within existing healthcare infrastructures.