Health policy review reveals evidence gaps in Indigenous newborn screening participation, highlighting the need to address community perspectives before integrating genomics.
Key Points
To examine equity and participation for Aboriginal and Torres Strait Islander families in newborn bloodspot screening amid the emerging integration of genomic technologies.
Reviewed the policy context and scope of Australia's national newborn bloodspot screening program covering 34 rare conditions.
Evaluated historical literature and documented evidence regarding Aboriginal and Torres Strait Islander experiences and engagement with screening services since the 1960s.
Identified a substantial lack of evidence regarding the participation rates, experiences, and specific needs of Aboriginal and Torres Strait Islander families in existing newborn screening.
Highlighted an urgent window of opportunity to incorporate Indigenous community perspectives, concerns, and priorities prior to expanding screening panels via genomics.