Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

摘要: The advent and refinement of sequencing technologies has resulted in a decrease both the cost time needed to generate data on entire sequence human genome. This increased accessibility using whole-genome whole-exome approaches for analysis research clinical contexts. expectation is that more services based these other high-throughput will become available patients wider population. Some authors predict be performed once lifetime, namely, shortly after birth. Public Professional Policy Committee European Society Human Genetics, Genome Organisation Ethics, Law Society, PHG Foundation P3G International Paediatric Platform address herein important issues challenges surrounding potential use publicly funded newborn screening (NBS) programmes. statement presents relevant culminates set recommendations help inform guide scientists clinicians, as well policy makers regarding necessary considerations genome NBS primary objective should targeted identification gene variants conferring high risk preventable or treatable conditions, which treatment start period early childhood.