Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis
Year: 2025
Type: article
Abstract: People living with a rare disease can wait months to years for a confirmed diagnosis after symptom onset, mainly due to low prevalence, lack of awareness of primary healthcare professionals, heterogeneous clinical presentation and/or peculiar inheritance patterns. This consensus paper aims to establish a set of guidelines to assist healthcare professionals-also without a specialized expertise in rare diseases-in optimizing the diagnostic pathway for these conditions. During Phase 1 of a real-time Delphi study, ten experts defined 26 statements addressing the identification of clinical features ("red flags", domain 1) and non-clinical tools/conditions ("clinical gateways", domain 2) that could trigger/support the diagnostic suspect of a rare disease. During Phase 2, the survey was extended to a multidisciplinary panel of 55 experts to reach a consensus on statements. Consensus was reached on 22 out of 26 statements across the two domains. Family history, clusters of birth defects, unusual presentations of common disease, neurodevelopmental delays or decline, and severe pathology emerged as key indicators to improve the identification and referral of cases of rare disease and should be integrated into primary care practices. Education, increased awareness in the community and use of technology are possible gateways to facilitate early diagnosis in rare disease.
Source: Scientific Reports
Authors: Giuseppe Limongelli, Fabio De Iaco, Marta Mosca, Leandro Pecchia, Gaetano Piccinocchi, Luca Sangiorgi, Maurizio Scarpa, Davide Cafiero, Lucia Politi, Fabio Tedone, Amalia Forte, Martina Caiazza, Chiara De Stasio, Anna Fusco, Barbara Morgillo, Iris Scala, Annalisa Scopinaro, Paola Facchin, The Argo Working Group, Giuseppina Annichiarico, Anna Annunziata, Marco Ardigò, Paolo A. Ascierto, Simone Baldovino, Rosa Bellomo, Francesco Benedicenti, Cecilia Berni, Stefano Bianchi, Alessandro Broccoli, Paolo Calabrò, Mauro Cancian, Tiziana Corsetti, Erica Daina, Silvia Di Michele, Alessandra Fabi, Andrea Fiorillo, Maria Galdo, Loreto Gesualdo, Maria Giuliano, Lorenzo Maggi, Giulia Motola, Giancarlo Parenti, Maria Piccione, Anna Pichiecchio, Roberto Poscia, Angelo Ravelli, Liliana Rizzo, Dario Roccatello, Elena Rossi, Elisa Rozzi, Margherita Ruoppolo, Salvatore Savasta, Cristina Scaletti, Raffaele Scarpa, Claudia Sgattoni, Simona Sica, Francesca Simonelli, Patrizia Suppressa, Giada Tortora, Antonio Toscano, Roberto Tozzi, Massimo Triggiani, Antonio Varone, Roberta Veneziano
Institutions: University of Campania "Luigi Vanvitelli", Regione Campania, Ospedale Monaldi, Ospedale Maria Vittoria, University of Pisa, Università Campus Bio-Medico, Istituto Ortopedico Rizzoli, ERN BOND, Azienda sanitaria universitaria Friuli Centrale, Federico II University Hospital, University of Padua, Azienda Ospedale - Università Padova, Agenzia Regionale Sanitaria della Puglia, Humanitas University, IRCCS Humanitas Research Hospital, Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale", University of Turin, Regione Liguria, Ospedale di Bolzano, Regione Toscana, University of Bologna, Istituto di Ematologia di Bologna, University of Rome Tor Vergata, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Mario Negri Institute for Pharmacological Research, Agostino Gemelli University Polyclinic, University of Bari Aldo Moro, Fondazione IRCCS Istituto Neurologico Carlo Besta, Regione Basilicata, University of Naples Federico II, University of Palermo, University of Pavia, Fondazione Istituto Neurologico Nazionale Casimiro Mondino, Policlinico Umberto I, Regione Lazio, Istituto Giannina Gaslini, University of Genoa, Regione Calabria, Ospedale San Giovanni Bosco, Università Cattolica del Sacro Cuore, Regione Emilia-Romagna, CEINGE Biotecnologie Avanzate Franco Salvatore (Italy), University of Cagliari, Ospedale Microcitemico, Azienda Ospedaliero-Universitaria Careggi, University of Florence, Azienda Ospedaliero-Universitaria delle Marche, University of Messina, University of Salerno, Santobono Children's Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,690
OpenAlex ID: W4416113308