Population screening requires robust evidence—genomics is no exception

New genomic technologies have improved the speed and accuracy with which rare disease diagnoses can be made in individuals presenting with a phenotype. These advancements have led to enthusiasm for applying these technologies at the population level to identify individuals at increased genomic risk of disease, and for their application in common as well as rare diseases. The UK has seen two major initiatives launch in 2023 that explore population screening by use of genomics. In the Genomics England Newborn Genomes Programme (NGP; the Generations Study), actionable findings from whole-genome sequencing (WGS) will be communicated for more than 200 diseases in 100 000 participating newborn babies.