Devashree Balasingam , Rosalind Moxham , Sophie Devery , Renee Smyth , Todor Arsov , Nick Olsen , Alexander Viardot , Jerry R Greenfield , Kathy HC Wu
{"title":"内分泌学家主导的成人糖尿病临床单基因糖尿病基因组检测:可行性和结果研究。","authors":"Devashree Balasingam , Rosalind Moxham , Sophie Devery , Renee Smyth , Todor Arsov , Nick Olsen , Alexander Viardot , Jerry R Greenfield , Kathy HC Wu","doi":"10.1016/j.diabres.2025.112456","DOIUrl":null,"url":null,"abstract":"<div><h3>Aims</h3><div>Monogenic diabetes (MGD), such as Maturity-Onset Diabetes of the Young (MODY), is under-recognised and under-diagnosed. Accurate diagnosis of MGD requires genetic testing and has important treatment implications. Integrating MGD testing within diabetes clinics can increase testing uptake and MGD diagnosis. We aimed to explore the feasibility and psychosocial outcomes of endocrinologist-led MGD testing.</div></div><div><h3>Methods</h3><div>Seventy-two adult participants were prospectively identified by endocrinologists from diabetes clinics guided by a set of clinical criteria developed for patient selection. All participants underwent MGD multigene panel testing. Clinical, demographic, and psychosocial data were collected.</div></div><div><h3>Results</h3><div>A diagnosis of MGD was established in 21.4 % of participants. Multivariable analysis identified younger age at diagnosis (p = 0.04), but not lower body mass index (p = 0.18) or positive family history (p = 0.35), as independent predictors of MGD. Patient satisfaction and empowerment were high. Sixty-percent of endocrinologists reported modifying patient management. Lack of clinical guidelines, access and cost of testing were identified barriers to point-of-care MGD testing.</div></div><div><h3>Conclusions</h3><div>Integrating MGD testing into routine diabetes care is feasible and can improve treatment outcomes and patient experience. Endocrinologists reported requiring support to implement MGD testing. Our patient selection criteria can be modified to improve inclusiveness and increase sensitivity in predicting MGD diagnosis.</div></div>","PeriodicalId":11249,"journal":{"name":"Diabetes research and clinical practice","volume":"229 ","pages":"Article 112456"},"PeriodicalIF":7.4000,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study\",\"authors\":\"Devashree Balasingam , Rosalind Moxham , Sophie Devery , Renee Smyth , Todor Arsov , Nick Olsen , Alexander Viardot , Jerry R Greenfield , Kathy HC Wu\",\"doi\":\"10.1016/j.diabres.2025.112456\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Aims</h3><div>Monogenic diabetes (MGD), such as Maturity-Onset Diabetes of the Young (MODY), is under-recognised and under-diagnosed. Accurate diagnosis of MGD requires genetic testing and has important treatment implications. Integrating MGD testing within diabetes clinics can increase testing uptake and MGD diagnosis. We aimed to explore the feasibility and psychosocial outcomes of endocrinologist-led MGD testing.</div></div><div><h3>Methods</h3><div>Seventy-two adult participants were prospectively identified by endocrinologists from diabetes clinics guided by a set of clinical criteria developed for patient selection. All participants underwent MGD multigene panel testing. Clinical, demographic, and psychosocial data were collected.</div></div><div><h3>Results</h3><div>A diagnosis of MGD was established in 21.4 % of participants. Multivariable analysis identified younger age at diagnosis (p = 0.04), but not lower body mass index (p = 0.18) or positive family history (p = 0.35), as independent predictors of MGD. Patient satisfaction and empowerment were high. Sixty-percent of endocrinologists reported modifying patient management. Lack of clinical guidelines, access and cost of testing were identified barriers to point-of-care MGD testing.</div></div><div><h3>Conclusions</h3><div>Integrating MGD testing into routine diabetes care is feasible and can improve treatment outcomes and patient experience. Endocrinologists reported requiring support to implement MGD testing. Our patient selection criteria can be modified to improve inclusiveness and increase sensitivity in predicting MGD diagnosis.</div></div>\",\"PeriodicalId\":11249,\"journal\":{\"name\":\"Diabetes research and clinical practice\",\"volume\":\"229 \",\"pages\":\"Article 112456\"},\"PeriodicalIF\":7.4000,\"publicationDate\":\"2025-09-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diabetes research and clinical practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S016882272500470X\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diabetes research and clinical practice","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S016882272500470X","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study
Aims
Monogenic diabetes (MGD), such as Maturity-Onset Diabetes of the Young (MODY), is under-recognised and under-diagnosed. Accurate diagnosis of MGD requires genetic testing and has important treatment implications. Integrating MGD testing within diabetes clinics can increase testing uptake and MGD diagnosis. We aimed to explore the feasibility and psychosocial outcomes of endocrinologist-led MGD testing.
Methods
Seventy-two adult participants were prospectively identified by endocrinologists from diabetes clinics guided by a set of clinical criteria developed for patient selection. All participants underwent MGD multigene panel testing. Clinical, demographic, and psychosocial data were collected.
Results
A diagnosis of MGD was established in 21.4 % of participants. Multivariable analysis identified younger age at diagnosis (p = 0.04), but not lower body mass index (p = 0.18) or positive family history (p = 0.35), as independent predictors of MGD. Patient satisfaction and empowerment were high. Sixty-percent of endocrinologists reported modifying patient management. Lack of clinical guidelines, access and cost of testing were identified barriers to point-of-care MGD testing.
Conclusions
Integrating MGD testing into routine diabetes care is feasible and can improve treatment outcomes and patient experience. Endocrinologists reported requiring support to implement MGD testing. Our patient selection criteria can be modified to improve inclusiveness and increase sensitivity in predicting MGD diagnosis.
期刊介绍:
Diabetes Research and Clinical Practice is an international journal for health-care providers and clinically oriented researchers that publishes high-quality original research articles and expert reviews in diabetes and related areas. The role of the journal is to provide a venue for dissemination of knowledge and discussion of topics related to diabetes clinical research and patient care. Topics of focus include translational science, genetics, immunology, nutrition, psychosocial research, epidemiology, prevention, socio-economic research, complications, new treatments, technologies and therapy.