Reproductive carrier screening is increasingly adopted to identify couples at risk of passing on serious genetic conditions. Subsidised carrier screening for cystic fibrosis, fragile X syndrome and spinal muscle atrophy has been available to eligible couples in Australia since 2023. The growing demand for carrier screening necessitates the need for external quality assurance (EQA) to ensure the accuracy and consistency of laboratory testing. Following a successful feasibility study, RCPAQAP launched the 3 Gene Carrier Screening EQA program to support continuous improvement and harmonisation in the delivery of reproductive carrier screening. This presentation shares findings from the RCPAQAP 3 Gene Carrier Screening EQA program, focusing on genotyping accuracy and reporting practices of Australian laboratories.
Sze Yee Chai (Sun,) studied this question.