{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:52:36Z","timestamp":1787025156734,"version":"build-2736575974"},"reference-count":33,"publisher":"American Diabetes Association","issue":"1","license":[{"start":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:00:00Z","timestamp":1545264000000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/www.diabetesjournals.org\/content\/license"}],"funder":[{"name":"Australasian Pediatric Endocrine Care","award":["WI205296"],"award-info":[{"award-number":["WI205296"]}]}],"content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>OBJECTIVE<\/jats:title>\n                    <jats:p>Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic\/likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Here, these data are used to estimate cost-effectiveness of using MPS for MODY in all pediatric diabetes cases compared with standard practice (sequencing limited to individuals with specific clinical features).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESEARCH DESIGN AND METHODS<\/jats:title>\n                    <jats:p>A Markov decision model was developed to estimate incremental costs and quality-adjusted life-years (QALYs) of MPS screening, modeled over 30 years. We used our observed prevalence of 2.14% compared with 0.7% for standard practice, based on published data. The probabilities and utility weightings of long-term diabetes complications were based on HbA1c and estimated from published data. A series of one-way sensitivity analyses were performed using the net monetary benefit framework.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>Routine MPS screening for MODY was more effective and less costly than standard care screening, with 26 QALYs gained and 1,016,000 AUD (782,000 USD) saved per 1,000 patients. Cost of screening was fully offset within 10 years. Routine MPS screening remained dominant until MODY prevalence fell to &amp;lt;1.1%.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS<\/jats:title>\n                    <jats:p>Routine MPS screening for MODY in the pediatric population with diabetes could reduce health system costs and improve patient QoL. Our results make a compelling argument for routine genetic screening in all children with presumed type 1 diabetes mellitus.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2337\/dc18-0261","type":"journal-article","created":{"date-parts":[[2018,12,6]],"date-time":"2018-12-06T17:19:05Z","timestamp":1544116745000},"page":"69-76","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":37,"title":["Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life"],"prefix":"10.2337","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4540-2751","authenticated-orcid":false,"given":"Stephanie R.","family":"Johnson","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes, Lady Cilento Children\u2019s Hospital, South Brisbane, Queensland, Australia"},{"name":"Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia"},{"name":"University of Queensland Diamantina Institute, Translational Research Institute, Woolloongabba, Queensland, Australia"},{"name":"Faculty of Medicine, University of Queensland, Herston, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah E.","family":"Carter","sequence":"additional","affiliation":[{"name":"Australian Centre for Health Services Innovation, Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Leo","sequence":"additional","affiliation":[{"name":"Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha A.","family":"Hollingworth","sequence":"additional","affiliation":[{"name":"School of Pharmacy, University of Queensland, Woolloongabba, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Perth Children\u2019s Hospital, Perth, Western Australia, Australia"},{"name":"Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia"},{"name":"School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7989-1998","authenticated-orcid":false,"given":"Timothy W.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Perth Children\u2019s Hospital, Perth, Western Australia, Australia"},{"name":"Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia"},{"name":"School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise S.","family":"Conwell","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Lady Cilento Children\u2019s Hospital, South Brisbane, Queensland, Australia"},{"name":"Faculty of Medicine, University of Queensland, Herston, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Harris","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Lady Cilento Children\u2019s Hospital, South Brisbane, Queensland, Australia"},{"name":"University of Queensland Diamantina Institute, Translational Research Institute, Woolloongabba, Queensland, Australia"},{"name":"Faculty of Medicine, University of Queensland, Herston, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Brown","sequence":"additional","affiliation":[{"name":"Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Graves","sequence":"additional","affiliation":[{"name":"Australian Centre for Health Services Innovation, Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8143-4403","authenticated-orcid":false,"given":"Emma L.","family":"Duncan","sequence":"additional","affiliation":[{"name":"Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia"},{"name":"Faculty of Medicine, University of Queensland, Herston, Queensland, Australia"},{"name":"Department of Endocrinology, Royal Brisbane and Women\u2019s Hospital, Herston, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1167","published-online":{"date-parts":[[2018,12,6]]},"reference":[{"key":"2022031300534250900_B1","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1586\/erm.10.123","article-title":"Role of molecular genetics in transforming diagnosis of diabetes 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