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12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

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ESPE Yearbook of Paediatric Endocrinology

12.5. Perspectives of rare disease experts on newborn genome sequencing

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