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. 2026 Mar 19:102517.
doi: 10.1016/j.ando.2026.102517. Online ahead of print.

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

Laurence Faivre  1 , Camille Level  2 , Régis Coutant  3 , Patrice Rodien  4 , Anne Barlier  5 , Alexandru Saveanu  5 , Claire Bouvattier  6 , Patricia Bretones  7 , Laetitia Martinerie  8 , Sylvie Rossignol  9 , Camille Lenelle  2 , Florence Roucher  10 , Christine Binquet  11 , Laurent Pasquier  12 , Emeline Davoine  2 , Coline Cormier  13 , Marie Bournez  2 , Raphaelle Maudinas  13 , Maxime Gonnot  13 , Augustin Lefevre  13 , Julien Maraval  14 , Hana Safraou  14 , Yannis Duffourd  14 , Christine Bellanné-Chantelot  15 , Cécile Saint-Martin  15 , Anne Bergougnoux  16 , Delphine Mallet  10 , Jérôme Bouligand  17 , Nicolas de Roux  18 , Lucie Coppin  19 , Gwenaelle Diene  20 , Christine Poitoux  21 , Delphine Prunier  22 , Xavier Dieu  22 , Nelly Burnichon  23 , Sophie Christin-Maitre  24 , Sylvie Jaillard  25 , Erika Launay  26 , Jean-Pierre Rabès  27 , Pascale Benlian  28 , Mathilde Di Filippo  29 , Oriane Marmontel  29 , Christine Poitou Bernert  30 , Corinne Vigouroux  31 , Elise Bismuth  8 , Jacques Beltrand  32 , Michel Polak  32 , Sophie Giraud  33 , Pascal Pigny  34 , Frédérique Savagner  35 , Isabelle Olivier Petit  36 , Jean-Baptiste Arnoux  37 , Sophie Beliard  38 , Marie-Françoise Odou  39 , Pauline Romanet  5 , Arnaud Molin  40 , Andreea Apetrei  40 , Nicolas Richard  40 , Laurence Pacot  41 , Eric Pasmant  42 , Marguerite Hureaux  43 , Rosa Vargas  43 , Mathilde Gay-Bellile  44 , Karine Aouchiche  38 , Alain Carrié  45 , Margaux Chauvet  38 , Antonio Gallo  46 , Julie Lemale  47 , Philippe Moulin  48 , Noël Peretti  48 , Christel Thauvin-Robinet  14 , Frédéric Huet  13 , Véronique Tardy-Guidolet  49
Affiliations

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

Laurence Faivre et al. Ann Endocrinol (Paris). .

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.

Keywords: Genome sequencing; Newborn screening; rare genetic endocrine diseases.

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