PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in Franc

Fiche publication

Date publication

octobre 2025

Journal

BMJ open

Auteurs

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

Tous les auteurs :
Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/41130699

Résumé

International pilot projects focusing on next-generation sequencing in newborn screening (NBS), that is, genomic NBS (gNBS), have been established thanks to continuous therapeutic progress and the massive development of new genetic technologies with rapidly decreasing costs. Given the highly encouraging results of the French SeDeN project regarding anticipated acceptability among professionals and parents, it is now appropriate to launch a similar pilot project in France, in collaboration with other international initiatives under the International Consortium on Newborn Sequencing framework.