Nine in 10 Australian researchers had their “ideas grant” applications rejected last year, even as Australia’s medical investment fund sits on $5 billion more than it was designed to hold.

Genomic newborn screening (gNBS) can screen for a broad range of genetic conditions, potentially enabling early treatment and improving health outcomes. However, it remains outside publicly funded pr...

The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of babies.

Integrating genomic sequencing into newborn screening (NBS) has transformative potential for the identification and management of genetic conditions. …

HPRC Data Release 2