{
  "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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  "authors": [
    {
      "name": "Laurence Faivre"
    },
    {
      "name": "Camille Level"
    },
    {
      "name": "Régis Coutant"
    },
    {
      "name": "Patrice Rodien"
    },
    {
      "name": "Anne Barlier"
    },
    {
      "name": "Alexandru Saveanu"
    },
    {
      "name": "Claire Bouvattier"
    },
    {
      "name": "Patricia Bretones"
    },
    {
      "name": "Laetitia Martinerie"
    },
    {
      "name": "Sylvie Rossignol"
    },
    {
      "name": "Camille Lenelle"
    },
    {
      "name": "Florence Roucher"
    },
    {
      "name": "Christine Binquet"
    },
    {
      "name": "Laurent Pasquier"
    },
    {
      "name": "Emeline Davoine"
    },
    {
      "name": "Coline Cormier"
    },
    {
      "name": "Marie Bournez"
    },
    {
      "name": "Raphaelle Maudinas"
    },
    {
      "name": "Maxime Gonnot"
    },
    {
      "name": "Augustin Lefevre"
    },
    {
      "name": "Julien Maraval"
    },
    {
      "name": "Hana Safraou"
    },
    {
      "name": "Yannis Duffourd"
    },
    {
      "name": "Christine Bellanné-Chantelot"
    },
    {
      "name": "Cécile Saint-Martin"
    },
    {
      "name": "Anne Bergougnoux"
    },
    {
      "name": "Delphine Mallet"
    },
    {
      "name": "Jérôme Bouligand"
    },
    {
      "name": "Nicolas de Roux"
    },
    {
      "name": "Lucie Coppin"
    },
    {
      "name": "Gwenaelle Diene"
    },
    {
      "name": "Christine Poitoux"
    },
    {
      "name": "Delphine Prunier"
    },
    {
      "name": "Xavier Dieu"
    },
    {
      "name": "Nelly Burnichon"
    },
    {
      "name": "Sophie Christin-Maitre"
    },
    {
      "name": "Sylvie Jaillard"
    },
    {
      "name": "Erika Launay"
    },
    {
      "name": "Jean-Pierre Rabès"
    },
    {
      "name": "Pascale Benlian"
    },
    {
      "name": "Mathilde Di Filippo"
    },
    {
      "name": "Oriane Marmontel"
    },
    {
      "name": "Christine Poitou Bernert"
    },
    {
      "name": "Corinne Vigouroux"
    },
    {
      "name": "Elise Bismuth"
    },
    {
      "name": "Jacques Beltrand"
    },
    {
      "name": "Michel Polak"
    },
    {
      "name": "Sophie Giraud"
    },
    {
      "name": "Pascal Pigny"
    },
    {
      "name": "Frédérique Savagner"
    },
    {
      "name": "Isabelle Olivier Petit"
    },
    {
      "name": "Jean-Baptiste Arnoux"
    },
    {
      "name": "Sophie Beliard"
    },
    {
      "name": "Marie-Françoise Odou"
    },
    {
      "name": "Pauline Romanet"
    },
    {
      "name": "Arnaud Molin"
    },
    {
      "name": "Andreea Apetrei"
    },
    {
      "name": "Nicolas Richard"
    },
    {
      "name": "Laurence Pacot"
    },
    {
      "name": "Eric Pasmant"
    }
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  "doi": "10.1016/j.ando.2026.102517",
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  "pmid": "41864333",
  "published": "2026-09-02",
  "publisher": "Société française d'endocrinologie [1939-....]",
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  "title": "Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions",
  "title_text": "Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:27Z",
  "url": "https://research.draconitic.com/paper/9xt5249fk39mj",
  "venue": "Annales d'Endocrinologie = Annals of Endocrinology",
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