Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.

Area of Science:

• Genomics
• Public Health
• Neonatal Screening

Background:

• Newborn bloodspot screening (NBS) is a critical public health program for identifying severe, treatable childhood diseases.
• Integrating genomic sequencing into NBS (gNBS) expands the scope of detectable conditions but presents practical and ethical challenges.
• Prospective cohort evidence is essential for guiding policy and implementation of gNBS.

Purpose of the Study:

• To develop, implement, and evaluate a pilot genomic NBS (gNBS) program.
• To assess the feasibility, ethical, psychosocial, and health economic factors of gNBS.
• To inform future service delivery for gNBS programs.

Main Methods:

• The BabyScreen+ study will pilot gNBS in three phases: pre-implementation, implementation, and post-implementation.
• Prospective recruitment of birth parents in Victoria, Australia, to screen 1000 newborns using whole genome sequencing.
• High-chance results will be returned by genetic healthcare professionals, with follow-on testing and specialist referrals.

Main Results:

• The study will evaluate the feasibility of gNBS as the primary outcome.
• Ethical, implementation, psychosocial, and health economic factors will be assessed.
• Results will inform policy-makers and guide future gNBS program development.

Conclusions:

• Genomic sequencing holds promise for expanding newborn screening capabilities.
• This pilot study will provide crucial evidence on the practical implementation and impact of gNBS.
• Findings will contribute to the responsible integration of advanced genomic technologies into public health initiatives.