Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).
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 dire...
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oai:doaj.org-article:02721dbc280447c7b089b29536fb6e482021-11-18T08:47:22ZIdentification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).1932-620310.1371/journal.pone.0079933https://doaj.org/article/02721dbc280447c7b089b29536fb6e482013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24244580/?tool=EBIhttps://doaj.org/toc/1932-6203MODY2 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.Michele PinelliFabio AcquavivaFabrizio BarbettiElisabetta CareddaSergio CocozzaMaurizio DelvecchioEnza MozzilloDaniele PirozziFrancesco PriscoIvana RabboneLucia SacchettiNadia TintoSonia ToniStefano ZucchiniDario IafuscoItalian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and DiabetologyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 11, p e79933 (2013) |
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| topic |
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| spellingShingle |
Medicine R Science Q 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 Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). |
| description |
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. |
| format |
article |
| author |
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 Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology |
| author_facet |
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 Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology |
| author_sort |
Michele Pinelli |
| title |
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). |
| title_short |
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). |
| title_full |
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). |
| title_fullStr |
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). |
| title_full_unstemmed |
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF). |
| title_sort |
identification of candidate children for maturity-onset diabetes of the young type 2 (mody2) gene testing: a seven-item clinical flowchart (7-if). |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/02721dbc280447c7b089b29536fb6e48 |
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