Pan-ethnic carrier screening has been proposed to replace ethnicity-based screening, but evidence from national implementation has been limited. Pan-ethnic screening increased carrier detection by 17%, at-risk couple detection by 11.9% and identified 26.8% of pathogenic variants outside their expected populations. These findings provide real-world evidence to support pan-ethnic carrier screening and inform future national screening policies in diverse populations.
Preconception genetic screening (PCGS) is a cornerstone of preventive genomic medicine, enabling identification of at-risk couples (ARCs) and informed reproductive decision-making. PCGS has demonstrated public health value by reducing the burden of severe heritable diseases. As genomic technologies advance, screening programmes have expanded from high-risk groups to broader population panels. However, determining the optimal scope of screening remains challenging.
Historically, PCGS initially relied on ethnicity-based screening of founder…