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。

IF 7.4 3区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Devashree Balasingam , Rosalind Moxham , Sophie Devery , Renee Smyth , Todor Arsov , Nick Olsen , Alexander Viardot , Jerry R Greenfield , Kathy HC Wu
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引用次数: 0

摘要

目的:单基因糖尿病(MGD),如青年成熟型糖尿病(MODY),未被充分认识和诊断。MGD的准确诊断需要基因检测,并具有重要的治疗意义。在糖尿病诊所中整合MGD检测可以增加检测的吸收和MGD诊断。我们的目的是探讨内分泌学家主导的MGD检测的可行性和社会心理结果。方法:72名成年参与者由糖尿病诊所的内分泌学家在一套为患者选择而制定的临床标准的指导下前瞻性地确定。所有参与者都进行了MGD多基因面板检测。收集临床、人口统计学和社会心理数据。结果:21.4% %的参与者被诊断为MGD。多变量分析发现,诊断时年龄较小(p = 0.04),但较低的身体质量指数(p = 0.18)或阳性家族史(p = 0.35)不是MGD的独立预测因素。患者满意度和授权都很高。60%的内分泌学家报告了对患者管理的改进。缺乏临床指南、检测的可及性和成本被确定为在护理点进行MGD检测的障碍。结论:将MGD检测纳入糖尿病常规护理是可行的,可以改善治疗效果和患者体验。内分泌学家报告需要支持来实施MGD检测。我们的患者选择标准可以修改,以提高预测MGD诊断的包容性和敏感性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study

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.
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来源期刊
Diabetes research and clinical practice
Diabetes research and clinical practice 医学-内分泌学与代谢
CiteScore
10.30
自引率
3.90%
发文量
862
审稿时长
32 days
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.
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