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 France.
Camille Level, Christel Thauvin-Robinet, Christine Binquet, Yannis Duffourd, Emeline Davoine, Martin Chevarin, Frédéric Tran-Mau-Them, Margot Lemaitre, Ange-Line Bruel, Hana Safraou, Dominique Salvi, Emilie Tisserant, Emmanuelle Lecommandeur, Amandine Charreton, Amir Hassine, Marie de Tayrac, Richard Redon, Julien Barc, Sebatien Schmitt, Juliette Piard, Paul Kuentz, Coline Cormier, Marlène Malbos, Caroline Racine, Brigitte Chabrol, David Cheillan, Véronique Tardy, Estelle Colin, Celine Bris, Sandra Mercier, Mathilde Nizon, Léa Gaudillat, Virginie Loizeau, Camille Lenelle, Nicolas Mottet, Emmanuel Simon, Jean-Baptiste Arnoux, Maud Carpentier, Catherine Renaud, Alban Ziegler, Catherine Lejeune, Anne-Sophie Jannot, Marie-Laure Asensio, Paul Rollier, Sylvie Odent, Stéphane Bezieau, Laurent Pasquier, Frédéric Huet, Laurence Faivre
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Abstract
Introduction: 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.
Methods and analysis: PERIGENOMED is a large-scale project designed to provide the first concrete evidence on the relevance of gNBS in France. It includes two clinical trials. We present here the design chosen for the first clinical trial (PERIGENOMED-CLINICS 1). PERIGENOMED-CLINICS 1 aims to assess the feasibility, real-world acceptability, psychosocial impact and organisational pathways of panel-based genomic newborn screening in France, involving 2500 participants. Solo-GS targeting two lists of gene-disease dyads responsible for treatable (list 1; 400 genes, 171 diseases/group of diseases) or actionable (list 2 optional; 407 genes, 218 diseases/group of diseases) rare and severe early-onset diseases will be proposed in five health institutions. Ancillary social and impact studies will also be included.
Ethics and dissemination: All study procedures have been reviewed and approved by relevant French ethics committees and regulatory authorities (CPP Est II-2024-A02224-43, 1 January 2025). Results of the project will be disseminated through peer-reviewed publications, national and international conferences, and public engagement initiatives, in coordination with stakeholders.
期刊介绍：
BMJ Open is an online, open access journal, dedicated to publishing medical research from all disciplines and therapeutic areas. The journal publishes all research study types, from study protocols to phase I trials to meta-analyses, including small or specialist studies. Publishing procedures are built around fully open peer review and continuous publication, publishing research online as soon as the article is ready.
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