Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Fiche publication

Date publication

mars 2026

Journal

Annales d'endocrinologie

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BINQUET Christine , Pr HUET Frédéric , Pr FAIVRE Laurence , Mr DUFFOURD Yannis , Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Faivre L, Level C, Coutant R, Rodien P, Barlier A, Saveanu A, Bouvattier C, Bretones P, Martinerie L, Rossignol S, Lenelle C, Roucher F, Binquet C, Pasquier L, Davoine E, Cormier C, Bournez M, Maudinas R, Gonnot M, Lefevre A, Maraval J, Safraou H, Duffourd Y, Bellanné-Chantelot C, Saint-Martin C, Bergougnoux A, Mallet D, Bouligand J, de Roux N, Coppin L, Diene G, Poitoux C, Prunier D, Dieu X, Burnichon N, Christin-Maitre S, Jaillard S, Launay E, Rabès JP, Benlian P, Filippo MD, Marmontel O, Bernert CP, Vigouroux C, Bismuth E, Beltrand J, Polak M, Giraud S, Pigny P, Savagner F, Petit IO, Arnoux JB, Beliard S, Odou MF, Romanet P, Molin A, Apetrei A, Richard N, Pacot L, Pasmant E, Hureaux M, Vargas R, Gay-Bellile M, Aouchiche K, Carrié A, Chauvet M, Gallo A, Lemale J, Moulin P, Peretti N, Thauvin-Robinet C, Huet F, Tardy-Guidolet V

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/41864333

Résumé

Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, international pilot programs-many coordinated within the International Consortium on Newborn Sequencing (ICoNS)-are evaluating genome-based NBS (gNBS) as a preventive public health strategy.