Genomic Screening Consortium for Australian Newborns (GenSCAN)

Area of Science:

• Genomics
• Public Health
• Rare Diseases

Background:

• Genomic sequencing at population scale offers potential for early detection and precision medicine for rare diseases.
• Integrating genomics into newborn screening presents challenges in technical feasibility, scalability, consent, and data management.
• Empirical evidence from large-scale studies is crucial for guiding policy on genomic newborn screening.

Purpose of the Study:

• To provide a narrative summary of ongoing genomic newborn screening studies in Australia.
• To explore the application of genomic technologies within the newborn screening context.
• To inform future policy decisions regarding the incorporation of genomic sequencing into newborn screening.

Main Methods:

• A narrative summary approach was used.
• Six research studies in Australia exploring genomic newborn screening were reviewed.
• Formation of the Genomic Screening Consortium for Australian Newborns (GenSCAN) to share experiences.

Main Results:

• Six distinct research studies are currently investigating genomic newborn screening in Australia.
• These studies employ diverse methodologies to gather evidence on implementation.
• A national consortium, GenSCAN, has been established for collective learning and experience sharing.

Conclusions:

• Substantial national and international evidence will emerge over the next decade.
• This evidence will guide policy decisions on integrating genomic sequencing into newborn screening.
• The findings will contribute to improving outcomes for newborns through advanced screening technologies.