Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

L Downie; J Yeo; T Minten; R Heald; D Ansel; M Baker; J Balciuniene; JS Berg; F Boemer; WK Chung; HL Cope; DJ Eckstein; N Encina; L Faivre; A Ferlini; J García-Villoria; MH Gelb; JM González de Aledo-Castillo; K Golden-Grant; RB Parad; N Shah; Z Stark; KL Sund; P Tsipouras; M To; D Bick; RC Green; S Adelson; E Agolini; A Al-Maraghi; K Alex; F Alkuraya; AA Akil; M Alshehri; D Ansel; N Armstrong; M Aujla; D Bailey; M Baker; A Barry; B Bennetts; M Berenger; J Berg; D Bernstein; A Bhatatcharjee; S Bhatt; D Bick; T Bishop; A Bitton; F Boemer; N Bonhomme; G Bowley; B Boyd; H Brennenstuhl; S Brenner; M Bresnahan; T Brewster; PJ Brooks; K Broomberg; A Brower; M Gentile; J Giordano; UG Jensen; D Godler; N Gold; A Goldenberg; K GoldenGrant; C Goldman; D Gottlieb; R Green; C Greene; B Greenstein; S Grosse; A Grueters; G Gumus; K Hagman; K Hall; A Harmant; S Hartmanis; R Hayeems; R Heald; M Hegde; R Heiner-Fokkema; L Henneman; B Hernan; C Hobbs; I Holm; L Horwitz; Z Hu; M Iascone; K Irvine; G Jin; K Kalbfleisch; M Nyegaard; J O'Sullivan; J Ojodu; P Orsini; A Oza

Journal article

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

L Downie, J Yeo, T Minten, R Heald, D Ansel, M Baker, J Balciuniene, JS Berg, F Boemer, WK Chung, HL Cope, DJ Eckstein, N Encina, L Faivre, A Ferlini, J García-Villoria, MH Gelb, JM González de Aledo-Castillo, K Golden-Grant, RB Parad Show all

Genetics in Medicine | Elsevier BV | Published : 2026

DOI: 10.1016/j.gim.2025.101618

Abstract

Purpose For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for updated recommendations to address the opportunities and complexities of genomic data. Methods The International Consortium on Newborn Sequencing includes leaders from over 16 research projects investigating genomic NBS across the United Kingdom, Europe, United States, and Oceania. Consortium members were invited to participate in a modified Delphi study, aggregating opinion on the selection of conditions for g..

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