Over the past decade, the increasing availability of genomic testing and the development of new techniques, such as next-generation sequencing (NGS), have transformed medical practice. The introduction of NGS has resulted in a shift away from single gene testing to multigene panels and whole-genome sequencing (WGS), paving the way for genomic testing to be used in acute healthcare settings. This is well demonstrated by the use of rapid WGS (rWGS) for acutely unwell neonates and children receiving intensive care.

The All Wales Medical Genomics Service (AWMGS) provides clinical and laboratory genomics services to the 3.1 million residents of Wales. It is funded by the National Health Service (NHS) Wales Joint Commissioning Committee (formerly the Welsh Health Specialist Services …