Newborn Screening: Equity for Aboriginal and Torres Strait Islander Families in the Context of Emerging Genomics.

Australia's newborn bloodspot screening program detects 34 rare conditions in all newborns and may expand to include hundreds more using genomic testing. Despite the program existing since the 1960s, there is little evidence about how Aboriginal and Torres Strait Islander families participate in or experience newborn screening. This research emphasizes the need to understand the perspectives and concerns of Aboriginal and Torres Strait Islander peoples as Australia considers incorporating genomics into newborn screening.

Key points

• Australia's newborn bloodspot screening program has screened for 34 rare conditions since the 1960s
• Genomic technology could expand screening to hundreds of additional conditions
• There is a lack of evidence on participation and experiences of Aboriginal and Torres Strait Islander peoples in newborn screening
• There is a critical need to understand the perspectives, hopes and fears of Aboriginal and Torres Strait Islander communities regarding genomics in newborn screening before expansion

Limitations

This document appears to be a brief abstract or introduction that identifies gaps in evidence rather than presenting research findings. It does not provide data on actual participation rates, outcomes, or detailed perspectives from Aboriginal and Torres Strait Islander families.