Genetics: Babies

The 10-Year Health Plan set out an ambition to “implement universal genomic testing” within the next decade. Delivering against this ambition will be subject to evidence gathered through the Generation Study. This research programme is evaluating the effectiveness of using whole genome sequencing to test 100,000 newborns for genetic mutations associated with more than 200 rare genetic conditions. The sequencing of 100,000 newborns through the study will be completed by summer 2027. The evaluation part of the study will then be completed and presented to the UK National Screening Committee who will make a recommendation to Government ministers on whether newborn genomic screening should be offered in the National Health Service or whether more research is required. Subject to this, and appropriate funding being available, genomic testing could be available for all newborns by 2035.