Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
Abstract
As part of the third French National Plan for Rare Diseases, the AnDDI-Rares network initiated a nationwide study in 2019 to assess how diagnostic practices for developmental anomalies have evolved over the last decade (2012-2022), in the context of the implementation of genome sequencing (GS) capabilities via the France Genomic Medicine Plan. We analyzed diagnostic rates in 34 French centers for developmental diseases, comparing a randomly selected week in 2012 with one in 2022. Secondary outcomes were diagnostic delays and GS efficiency. A total of 430 patients were identified in 2012 and 551 in 2022, a 28% increase in activity. The overall diagnostic yield rose from 16% in 2012 to 27% in 2022 (p < 0.001), in parallel with the increased use of next-generation sequencing (NGS) approaches, and the shift from targeted gene panels toward GS. Among previously undiagnosed patients from the 2012 cohort who pursued further investigations, NGS enabled additional diagnoses with GS showing a high diagnostic yield (42%) in individuals with longstanding diagnostic odysseys. Significant heterogeneity in strategies persisted, highlighting the impact of, and unequal access to GS across centers. These results highlight advancements in diagnostic practices and the pivotal role of Next-Generation Sequencing. Nonetheless, unequal access, attrition, and limited uptake of renewed investigations reveal persistent barriers. Continuous patient engagement and coordinated efforts are required to promote GS-first approaches and ensure equitable access across the healthcare system.
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BibTeX
@article{maraval2026diagnostic,
title = {{Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)}},
author = {Julien Maraval and Céline Dampfhoffer and Antoine Journé and Céline Poitevin and Marie Laure Asensio and Niki Sabour and Anne-Sophie Briffaut and Didier Lacombe and Marta Spodenkiewicz and David Genevieve and Olivier Patat and Camille Cenni and Philippe Khau Van Kien and Laëtitia Lambert and Mathilde Renaud and Hortense Thomas and Céline Poirsier and Elise Schaefer and Juliette Piard and Yline Capri and Rodolphe Dard and Cyril Mignot and André Delahaye-Duriez and Marilyn Lackmy and Sylvie Odent and Annick Toutain and Marie-Line Jacquemont and Bertrand Isidor and Dominique Bonneau and Séverine Audebert-Bellanger and Radka Stoeva and Florence Demurger and Odile Boute and Cindy Colson and Florence Jobic and Bénédicte Demeer and Anne-Marie Guerrot and Aline Vincent-Devulder and Pauline Monin and Sabine Sigaudy and Mathieu Milh and Isabelle Marey and Christine Francannet and Fanny Laffargue and Renaud Touraine and Maude Grelet and Gwenaël Le Guyader and Matthieu Egloff and Frédéric Bilan and Jeanne Amiel and Caroline Racine and Christine Vinciguera and Pierre Blanc and Christel Thauvin-Robinet and Laurent Demougeot and Aurore Pélissier and Philippe Khau Van Kien and Laëtitia Lambert and Mathilde Renaud and Céline Poirsier},
journal = {European Journal of Human Genetics},
year = {2026},
month = oct,
doi = {10.1038/s41431-026-02242-3},
url = {https://u-picardie.hal.science/hal-05786614v1},
note = {CC BY},
}
RIS
TY - JOUR
TI - Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
AU - Julien Maraval
AU - Céline Dampfhoffer
AU - Antoine Journé
AU - Céline Poitevin
AU - Marie Laure Asensio
AU - Niki Sabour
AU - Anne-Sophie Briffaut
AU - Didier Lacombe
AU - Marta Spodenkiewicz
AU - David Genevieve
AU - Olivier Patat
AU - Camille Cenni
AU - Philippe Khau Van Kien
AU - Laëtitia Lambert
AU - Mathilde Renaud
AU - Hortense Thomas
AU - Céline Poirsier
AU - Elise Schaefer
AU - Juliette Piard
AU - Yline Capri
AU - Rodolphe Dard
AU - Cyril Mignot
AU - André Delahaye-Duriez
AU - Marilyn Lackmy
AU - Sylvie Odent
AU - Annick Toutain
AU - Marie-Line Jacquemont
AU - Bertrand Isidor
AU - Dominique Bonneau
AU - Séverine Audebert-Bellanger
AU - Radka Stoeva
AU - Florence Demurger
AU - Odile Boute
AU - Cindy Colson
AU - Florence Jobic
AU - Bénédicte Demeer
AU - Anne-Marie Guerrot
AU - Aline Vincent-Devulder
AU - Pauline Monin
AU - Sabine Sigaudy
AU - Mathieu Milh
AU - Isabelle Marey
AU - Christine Francannet
AU - Fanny Laffargue
AU - Renaud Touraine
AU - Maude Grelet
AU - Gwenaël Le Guyader
AU - Matthieu Egloff
AU - Frédéric Bilan
AU - Jeanne Amiel
AU - Caroline Racine
AU - Christine Vinciguera
AU - Pierre Blanc
AU - Christel Thauvin-Robinet
AU - Laurent Demougeot
AU - Aurore Pélissier
AU - Philippe Khau Van Kien
AU - Laëtitia Lambert
AU - Mathilde Renaud
AU - Céline Poirsier
PY - 2026
DA - 2026/10/06
JO - European Journal of Human Genetics
DO - 10.1038/s41431-026-02242-3
UR - https://u-picardie.hal.science/hal-05786614v1
AB - As part of the third French National Plan for Rare Diseases, the AnDDI-Rares network initiated a nationwide study in 2019 to assess how diagnostic practices for developmental anomalies have evolved over the last decade (2012-2022), in the context of the implementation of genome sequencing (GS) capabilities via the France Genomic Medicine Plan. We analyzed diagnostic rates in 34 French centers for developmental diseases, comparing a randomly selected week in 2012 with one in 2022. Secondary outcomes were diagnostic delays and GS efficiency. A total of 430 patients were identified in 2012 and 551 in 2022, a 28% increase in activity. The overall diagnostic yield rose from 16% in 2012 to 27% in 2022 (p < 0.001), in parallel with the increased use of next-generation sequencing (NGS) approaches, and the shift from targeted gene panels toward GS. Among previously undiagnosed patients from the 2012 cohort who pursued further investigations, NGS enabled additional diagnoses with GS showing a high diagnostic yield (42%) in individuals with longstanding diagnostic odysseys. Significant heterogeneity in strategies persisted, highlighting the impact of, and unequal access to GS across centers. These results highlight advancements in diagnostic practices and the pivotal role of Next-Generation Sequencing. Nonetheless, unequal access, attrition, and limited uptake of renewed investigations reveal persistent barriers. Continuous patient engagement and coordinated efforts are required to promote GS-first approaches and ensure equitable access across the healthcare system.
SN - 1018-4813
SN - 1476-5438
ER -