Patient and healthcare practitioner experiences and perspectives on Expanded Carrier Screening: A scoping review

Carrier screening identifies individuals/couples at risk for autosomal recessive conditions, and expanded or universal approaches are increasingly recommended. Implementation poses clinical, ethical, and logistical challenges which remain underexplored. This scoping review synthesised patient/public and healthcare practitioner experiences and perspectives with expanded and universal carrier screening (ECS and UCS). Search of four databases identified 1,433 records, plus 19 additional studies. After screening and full-text review (112 papers), 45 studies were included.