Most monogenic diabetes is misdiagnosed as either type 1 or type 2 diabetes (T1D/T2D). Few studies have examined the diagnostic challenges from the patients’ perspective. This qualitative study aimed to investigate patients’ journeys to obtaining a diagnosis of maturity‐onset diabetes of the young (MODY) by elucidating the range of factors that can act as barriers and facilitators throughout this process. We recruited participants from the Personalized Diabetes Medicine Program (PDMP) at University of Maryland and used respondent‐driven sampling to recruit additional patients. We conducted qualitative phone interviews between October 2016 and June 2017 with nine patients with diagnoses of monogenic diabetes (one HNF4A‐MODY, seven GCK‐MODY, and one HNF1A‐MODY) and one parent of a patient with INS‐MODY. Interview data were audio recorded, transcribed, and analyzed both inductively and deductively using thematic content analysis. All patients were female, with a mean age of 35 (range: 7–67 years). The amount of time these patients were misdiagnosed ranged from a few months to 41 years. We identified barriers and facilitators in three broad themes: (a) patient‐related (nature of MODY symptoms, perceived test utility, individual personality); (b) provider‐related (provider awareness and knowledge, provider communication); and (c) healthcare system‐related (cost of testing, access to knowledgeable providers, patient education, and support resources). The diverse range of barriers and facilitators reiterates the complexity of the MODY diagnostic process. Limited awareness and knowledge of MODY from healthcare professionals and patients themselves account for most diagnostic delays described in this study. Efforts to promote awareness of MODY and expand access to screening and testing may result in quicker diagnosis and ensure the downstream benefits of proper treatment.

中文翻译：

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病人对单基因糖尿病诊断过程的看法：障碍和促进者。

大多数单基因糖尿病被误诊为1型或2型糖尿病（T1D / T2D）。很少有研究从患者的角度检查诊断挑战。这项定性研究旨在阐明在整个过程中可能成为障碍和促进因素的一系列因素，以调查患者获得诊断为年轻型糖尿病的过程。我们从马里兰大学的个性化糖尿病医学计划（PDMP）招募了参与者，并使用响应者驱动的样本招募了更多患者。我们在2016年10月至2017年6月期间对9名诊断为单基因糖尿病的患者进行了定性电话采访（1名HNF4A- MODY，7名GCK- MODY和1名HNF1A‐MODY）和一名INS患者的父母‐MODY。使用专题内容分析对采访数据进行录音，转录和归纳和演绎分析。所有患者均为女性，平均年龄为35岁（范围：7-67岁）。这些患者被误诊的时间从几个月到41年不等。我们在三个主要主题中确定了障碍和促进因素：（a）与患者相关（MODY症状的性质，感知的测试效用，个人个性）；（b）与提供者相关的（提供者意识和知识，提供者沟通）；（c）与医疗保健系统有关的费用（测试费用，与知识渊博的医疗服务提供者的联系，患者教育和支持资源）。障碍和促进者的范围广泛，再次证明了MODY诊断过程的复杂性。医护人员和患者本身对MODY的了解和了解有限，是造成本研究中描述的大多数诊断延迟的原因。努力提高人们对MODY的认识并扩大筛查和检测的机会，可能会加快诊断速度，并确保适当治疗的下游利益。