OBJECTIVE To implement, disseminate, and evaluate a sustainable method for identifying, diagnosing, and promoting individualized therapy for monogenic diabetes. RESEARCH DESIGN AND METHODS Patients were recruited into the implementation study through a screening questionnaire completed in the waiting room or through the patient portal, physician recognition, or self-referral. Patients suspected of having monogenic diabetes based on the processing of their questionnaire and other data through an algorithm underwent next-generation sequencing for 40 genes implicated in monogenic diabetes and related conditions. RESULTS Three hundred thirteen probands with suspected monogenic diabetes (but most diagnosed with type 2 diabetes) were enrolled from October 2014 to January 2019. Sequencing identified 38 individuals with monogenic diabetes, with most variants found in GCK or HNF1A. Positivity rates for ascertainment methods were 3.1% for clinic screening, 5.3% for electronic health record portal screening, 16.5% for physician recognition, and 32.4% for self-referral. The algorithmic criterion of non–type 1 diabetes before age 30 years had an overall positivity rate of 15.0%. CONCLUSIONS We successfully modeled the efficient incorporation of monogenic diabetes diagnosis into the diabetes care setting, using multiple strategies to screen and identify a subpopulation with a 12.1% prevalence of monogenic diabetes by molecular testing. Self-referral was particularly efficient (32% prevalence), suggesting that educating the lay public in addition to clinicians may be the most effective way to increase the diagnosis rate in monogenic diabetes. Scaling up this model will assure access to diagnosis and customized treatment among those with monogenic diabetes and, more broadly, access to personalized medicine across disease areas.

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将单基因糖尿病诊断整合到常规护理中的模型：个性化糖尿病医学计划

目的 实施、传播和评估一种可持续的方法，用于识别、诊断和促进单基因糖尿病的个体化治疗。研究设计和方法 通过在候诊室或通过患者门户网站、医生认可或自我推荐完成的筛选问卷将患者招募到实施研究中。根据通过算法处理他们的问卷和其他数据，怀疑患有单基因糖尿病的患者接受了与单基因糖尿病和相关疾病有关的 40 个基因的下一代测序。结果 从 2014 年 10 月到 2019 年 1 月，共招募了 313 名疑似单基因糖尿病（但大多数被诊断为 2 型糖尿病）的先证者。测序确定了 38 名单基因糖尿病患者，在 GCK 或 HNF1A 中发现了大多数变体。确定方法的阳性率是临床筛查的 3.1%、电子健康记录门户筛查的 5.3%、医生认可的 16.5% 和自我推荐的 32.4%。30 岁之前非 1 型糖尿病的算法标准的总体阳性率为 15.0%。结论 我们成功地模拟了单基因糖尿病诊断与糖尿病护理环境的有效结合，使用多种策略通过分子检测筛选和识别单基因糖尿病患病率为 12.1% 的亚群。自我转诊特别有效（32% 的患病率），这表明除了临床医生外，对普通公众进行教育可能是提高单基因糖尿病诊断率的最有效方法。