Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: A seven-item clinical flowchart (7-iF)

Michele Pinelli, Fabio Acquaviva, Fabrizio Barbetti, Elisabetta Caredda, Sergio Cocozza, Maurizio Delvecchio, Enza Mozzillo, Daniele Pirozzi, Francesco Prisco, Ivana Rabbone, Lucia Sacchetti, Nadia Tinto, Sonia Toni, Stefano Zucchini, Dario Iafusco, Martina Biagioni, Ines Carloni, Anna Maria Cester, Valentino Cherubini, Chiara GiorgettiAntonio Iannilli, Mariella Bruzzese, Francesco Mammì, Monica Guasti, Lorenzo Lenzi, Rossella Pepe, Barbara Piccini, Marzia Benelli, Francesco Cadario, Valeria Calcaterra, Franco Cerutti, Sabrina Sicignano, Corrado Mammì, Nicola Lazzaro, Pasquale Comberiati, Andrea Scaramuzza, Gianvincenzo Zuccotti, Francesca Redaelli, Francesco Gallo, Marco Cappa, Patrizia Patera, Riccardo Schiaffini, Francesca Cardella, Caterina Salvo, Rosaria De Marco, Margherita Chessa, Paola Frongia, Maria Rossella Ricciardi, Carlo Ripoli, Maria Antonietta Zedda, Felice Citriniti, Francesco Chiarelli, Stefano Tumini, Maria Susanna Coccioli, Fiorella De Berardinis, Elisa Santoro, Filippo De Luca, Fortunato Lombardo, Giuseppina Salzano, Barbara Felappi, Elena Prandi, Elda Frezza, Elvira Piccinno, Cataldo Torelli, Clara Zecchino, Alfonso Galderisi, Carlamaria Monciotti, Dario Ingletto, Peter Kaufmann, Bruno Pasquino, Riccardo Lera, Sonia Lucchesi, Angelo Perrotta, Silvana Salardi, Mirella Scipioni, Sergio Luceri, Filomena Stamati, Luigi Pianese, Letizia Tomaselli, Amedeo Vergerio, Francesca Casaburo, Alessandra Cocca, Santino Confetto, Emilia Forgione, Ciretta Pelliccia, Stefania Picariello, Francesca Pisani, Alessia Piscopo, Pasquale Villano, Angela Zanfardino, Pietro Buono, Adriana Franzese, Rosa Nugnes, Giuliana Valerio, Claudio Maffeis, Marco Marigliano, Giovanni Chiari, Brunella Iovene, Maurizio Vanelli

Research output: Contribution to journalArticle

Abstract

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary "yes or no" questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.

Original languageEnglish
Article numbere79933
JournalPLoS One
Volume8
Issue number11
DOIs
Publication statusPublished - Nov 11 2013

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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