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

Fiche publication

Date publication

janvier 2026

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence

Tous les auteurs :
Downie L, Yeo J, Minten T, Heald R, Ansel D, Baker M, Balciuniene J, Berg JS, Boemer F, Chung WK, Cope HL, Eckstein DJ, Encina N, Faivre L, Ferlini A, García-Villoria J, Gelb MH, González De Aledo-Castillo JM, Golden-Grant K, Parad RB, Shah N, Stark Z, Sund KL, Tsipouras P, To M, Bick D, Green RC, ,Gold NB

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/41765866

Résumé

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.