Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children.
Emily SloperJana JezkovaJoanne ThomasKestra DawsonJoseph HalsteadJennifer GardnerKatherine BurkeSivakumar OrugantiJennifer CalvertJennifer EvansSarah AndersonSian CorrinCaroline PottingerOliver MurchPublished in: Archives of disease in childhood (2024)
This study demonstrates that trio rWGS is having a positive impact on the care of acutely unwell infants and children in an NHS setting. In particular, the study shows that rWGS can be applied in an NHS setting, achieving a diagnostic yield comparable with the previously published diagnostic yields achieved in research settings, while also helping to improve patient care and management.