Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials.
Owen Martyn Bendor-SamuelTabitha WishladeLouise WillisParvinder AleyEdward ChoiRachel CraikYama MujadidiGinny MounceFenella RosemanArancha De La Horra GozaloJames BlandNazia TajIan SmithAnette-Gabriele ZieglerEzio BonifacioChristiane WinklerFlorian HauptJohn A ToddLaurent ServaisMatthew D SnapeManu Vatishnull nullPublished in: Archives of disease in childhood (2022)
The use of prospective consent to perform personalised genetic testing on samples obtained through the routine NBSP represents a novel mechanism for clinical genetic research in the UK and provides a model for further population-based genetic studies in the newborn.