Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
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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BibTeX
@article{faivre2026genomic,
title = {{Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions}},
author = {Laurence Faivre and Camille Level and Régis Coutant and Patrice Rodien and Anne Barlier and Alexandru Saveanu and Claire Bouvattier and Patricia Bretones and Laetitia Martinerie and Sylvie Rossignol and Camille Lenelle and Florence Roucher and Christine Binquet and Laurent Pasquier and Emeline Davoine and Coline Cormier and Marie Bournez and Raphaelle Maudinas and Maxime Gonnot and Augustin Lefevre and Julien Maraval and Hana Safraou and Yannis Duffourd and Christine Bellanné-Chantelot and Cécile Saint-Martin and Anne Bergougnoux and Delphine Mallet and Jérôme Bouligand and Nicolas de Roux and Lucie Coppin and Gwenaelle Diene and Christine Poitoux and Delphine Prunier and Xavier Dieu and Nelly Burnichon and Sophie Christin-Maitre and Sylvie Jaillard and Erika Launay and Jean-Pierre Rabès and Pascale Benlian and Mathilde Di Filippo and Oriane Marmontel and Christine Poitou Bernert and Corinne Vigouroux and Elise Bismuth and Jacques Beltrand and Michel Polak and Sophie Giraud and Pascal Pigny and Frédérique Savagner and Isabelle Olivier Petit and Jean-Baptiste Arnoux and Sophie Beliard and Marie-Françoise Odou and Pauline Romanet and Arnaud Molin and Andreea Apetrei and Nicolas Richard and Laurence Pacot and Eric Pasmant},
journal = {Annales d'Endocrinologie = Annals of Endocrinology},
year = {2026},
month = sep,
doi = {10.1016/j.ando.2026.102517},
url = {https://normandie-univ.hal.science/hal-05582204v1},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
AU - Laurence Faivre
AU - Camille Level
AU - Régis Coutant
AU - Patrice Rodien
AU - Anne Barlier
AU - Alexandru Saveanu
AU - Claire Bouvattier
AU - Patricia Bretones
AU - Laetitia Martinerie
AU - Sylvie Rossignol
AU - Camille Lenelle
AU - Florence Roucher
AU - Christine Binquet
AU - Laurent Pasquier
AU - Emeline Davoine
AU - Coline Cormier
AU - Marie Bournez
AU - Raphaelle Maudinas
AU - Maxime Gonnot
AU - Augustin Lefevre
AU - Julien Maraval
AU - Hana Safraou
AU - Yannis Duffourd
AU - Christine Bellanné-Chantelot
AU - Cécile Saint-Martin
AU - Anne Bergougnoux
AU - Delphine Mallet
AU - Jérôme Bouligand
AU - Nicolas de Roux
AU - Lucie Coppin
AU - Gwenaelle Diene
AU - Christine Poitoux
AU - Delphine Prunier
AU - Xavier Dieu
AU - Nelly Burnichon
AU - Sophie Christin-Maitre
AU - Sylvie Jaillard
AU - Erika Launay
AU - Jean-Pierre Rabès
AU - Pascale Benlian
AU - Mathilde Di Filippo
AU - Oriane Marmontel
AU - Christine Poitou Bernert
AU - Corinne Vigouroux
AU - Elise Bismuth
AU - Jacques Beltrand
AU - Michel Polak
AU - Sophie Giraud
AU - Pascal Pigny
AU - Frédérique Savagner
AU - Isabelle Olivier Petit
AU - Jean-Baptiste Arnoux
AU - Sophie Beliard
AU - Marie-Françoise Odou
AU - Pauline Romanet
AU - Arnaud Molin
AU - Andreea Apetrei
AU - Nicolas Richard
AU - Laurence Pacot
AU - Eric Pasmant
PY - 2026
DA - 2026/09/02
JO - Annales d'Endocrinologie = Annals of Endocrinology
DO - 10.1016/j.ando.2026.102517
UR - https://normandie-univ.hal.science/hal-05582204v1
AB - 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.
SN - 0003-4266
SN - 2213-3941
ER -