Laurence Faivre, Camille Level, Régis Coutant, Patrice Rodien, Anne Barlier, Alexandru Saveanu, Claire Bouvattier, Patricia Bretones, Laetitia Martinerie, Sylvie Rossignol, Camille Lenelle, Florence Roucher, Christine Binquet, Laurent Pasquier, Emeline Davoine, Coline Cormier, Marie Bournez, Raphaelle Maudinas, Maxime Gonnot, Augustin Lefevre, Julien Maraval, Hana Safraou, Yannis Duffourd, Christine Bellanné-Chantelot, Cécile Saint-Martin, Anne Bergougnoux, Delphine Mallet, Jérôme Bouligand, Nicolas de Roux, Lucie Coppin, Gwenaelle Diene, Christine Poitoux, Delphine Prunier, Xavier Dieu, Nelly Burnichon, Sophie Christin-Maitre, Sylvie Jaillard, Erika Launay, Jean-Pierre Rabès, Pascale Benlian, Mathilde Di Filippo, Oriane Marmontel, Christine Poitou Bernert, Corinne Vigouroux, Elise Bismuth, Jacques Beltrand, Michel Polak, Sophie Giraud, Pascal Pigny, Frédérique Savagner, Isabelle Olivier Petit, Jean-Baptiste Arnoux, Sophie Beliard, Marie-Françoise Odou, Pauline Romanet, Arnaud Molin, Andreea Apetrei, Nicolas Richard, Laurence Pacot, Eric Pasmant, Marguerite Hureaux, Rosa Vargas, Mathilde Gay-Bellile, Karine Aouchiche, Alain Carrié, Margaux Chauvet, Antonio Gallo, Julie Lemale, Philippe Moulin, Noël Peretti, Christel Thauvin-Robinet, Frédéric Huet, Véronique Tardy-Guidolet
{"title":"Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.","authors":"Laurence Faivre, Camille Level, Régis Coutant, Patrice Rodien, Anne Barlier, Alexandru Saveanu, Claire Bouvattier, Patricia Bretones, Laetitia Martinerie, Sylvie Rossignol, Camille Lenelle, Florence Roucher, Christine Binquet, Laurent Pasquier, Emeline Davoine, Coline Cormier, Marie Bournez, Raphaelle Maudinas, Maxime Gonnot, Augustin Lefevre, Julien Maraval, Hana Safraou, Yannis Duffourd, Christine Bellanné-Chantelot, Cécile Saint-Martin, Anne Bergougnoux, Delphine Mallet, Jérôme Bouligand, Nicolas de Roux, Lucie Coppin, Gwenaelle Diene, Christine Poitoux, Delphine Prunier, Xavier Dieu, Nelly Burnichon, Sophie Christin-Maitre, Sylvie Jaillard, Erika Launay, Jean-Pierre Rabès, Pascale Benlian, Mathilde Di Filippo, Oriane Marmontel, Christine Poitou Bernert, Corinne Vigouroux, Elise Bismuth, Jacques Beltrand, Michel Polak, Sophie Giraud, Pascal Pigny, Frédérique Savagner, Isabelle Olivier Petit, Jean-Baptiste Arnoux, Sophie Beliard, Marie-Françoise Odou, Pauline Romanet, Arnaud Molin, Andreea Apetrei, Nicolas Richard, Laurence Pacot, Eric Pasmant, Marguerite Hureaux, Rosa Vargas, Mathilde Gay-Bellile, Karine Aouchiche, Alain Carrié, Margaux Chauvet, Antonio Gallo, Julie Lemale, Philippe Moulin, Noël Peretti, Christel Thauvin-Robinet, Frédéric Huet, Véronique Tardy-Guidolet","doi":"10.1016/j.ando.2026.102557","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Materials and methods: </strong>We reviewed published international gNBS pilot studies, with particular attention to discussions related to endocrine disorders. We integrated insights from the French PERIGENOMED-CLINICS 1 (PGC1) project, including its curated gene list and collaboration mainly with the FIRENDO French network dedicated to rare endocrine diseases.</p><p><strong>Results: </strong>No publications were identified specifically addressing gNBS in rare pediatric endocrine diseases as a unified domain. In comparative analyses of gNBS pilot programs, endocrine disorders represented approximately 10% of included conditions, with marked heterogeneity across initiatives and no primary endocrine disorder uniformly retained. Analysis of the PGC1 dataset identified 125 endocrine and endocrine-adjacent gene-disease dyads (14% of all project dyads), divided into list 1 (\"treatable\", n=62) and list 2 (\"actionable\", n=63). List 1 predominantly included early-onset, hormonally driven disorders, whereas list 2 extended toward obesity-related and multisystem syndromic conditions. Stratification by clinical actionability revealed four categories ranging from time-critical neonatal conditions to surveillance-driven and long-term risk phenotypes, underscoring substantial variability in timing of intervention, penetrance, and level of evidence supporting early benefit.</p><p><strong>Conclusion: </strong>Genomic NBS is transforming rare disease management, including endocrine diseases, by enabling earlier diagnosis, precision care, and coordinated professional and family-based interventions, marking a paradigm shift in population health.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales d'endocrinologie","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.ando.2026.102557","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: 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.
Materials and methods: We reviewed published international gNBS pilot studies, with particular attention to discussions related to endocrine disorders. We integrated insights from the French PERIGENOMED-CLINICS 1 (PGC1) project, including its curated gene list and collaboration mainly with the FIRENDO French network dedicated to rare endocrine diseases.
Results: No publications were identified specifically addressing gNBS in rare pediatric endocrine diseases as a unified domain. In comparative analyses of gNBS pilot programs, endocrine disorders represented approximately 10% of included conditions, with marked heterogeneity across initiatives and no primary endocrine disorder uniformly retained. Analysis of the PGC1 dataset identified 125 endocrine and endocrine-adjacent gene-disease dyads (14% of all project dyads), divided into list 1 ("treatable", n=62) and list 2 ("actionable", n=63). List 1 predominantly included early-onset, hormonally driven disorders, whereas list 2 extended toward obesity-related and multisystem syndromic conditions. Stratification by clinical actionability revealed four categories ranging from time-critical neonatal conditions to surveillance-driven and long-term risk phenotypes, underscoring substantial variability in timing of intervention, penetrance, and level of evidence supporting early benefit.
Conclusion: Genomic NBS is transforming rare disease management, including endocrine diseases, by enabling earlier diagnosis, precision care, and coordinated professional and family-based interventions, marking a paradigm shift in population health.
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