“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care

Implementation of genomics in newborn screening is rapidly becoming a reality through accelerated clinical research and investment in genomic sequencing programs. The perspectives of parents who have experienced genetic screening and technologies can inform effective clinical translation and co-design of a model of care for future programs. Semi-structured interviews were undertaken with 23 parents of children diagnosed with genetic conditions. Data were evaluated using inductive content analysis methods. Parents valued expeditious, contemporary and accurate information from specialists to manage uncertainties and aid decision-making upon receiving a genomic diagnosis, alongside coordination and collaboration with local services to provide child and family centred care. Integration of psychosocial support into genomic NBS programs was highlighted as an important strategy to mitigate potential psychological risks of receiving a newborn genomic screening result. Integrating genomic NBS in current health ecosystems requires a model that provides care and support across the healthcare journey for the child and family. Information provision and consent at screening facilitates familial understanding of the implications of genomic screening. Equitable access to post screening care and expertise is essential to optimise health and psychosocial outcomes for the child and family and maintain parental acceptability.