Center for Identification and Study of Individuals with Atypical Diabetes Mellitus

项目摘要/摘要 Radiant[罕见和非典型糖尿病网络]是一个全国性的研究人员网络，试图找出 新的罕见的非典型形式的糖尿病。为了发现新形式的非典型糖尿病，光辉的研究人员 将执行基因测试和深入的表型鉴定，可能包括以下部分或全部：体检 检查、心理和认知筛查测试、实验室数据和各种其他临床测试。这 深入的表型鉴定将使研究人员能够在患者参与者中寻找模式，这些患者呈现出 非典型糖尿病。它将生成大量特定于参与者的健康数据，其中一些将 具有未知的意义。Radiant调查人员正在制定关于返回哪些结果和 如何退货。在本附录中，我们重点介绍非遗传临床结果的返回。归来 并不是所有的结果都是有益的(信息过载)；然而决定返回哪些结果就不是了 与生俱来的价值中立。由于并非所有结果都是完整的，返回结果变得更加复杂 可解释；给参与者留下了未知意义的信息，调查人员不确定如何 解释其中的不确定性。我们的目标是探索参与者在同意时认为他们是在注册什么 返回结果以及调查人员是否准备返回这些结果。争议在于 辐射财团面临的五个问题是：1)结果共享；2)如何披露异常结果； 3)调查人员是否有义务以及在多大程度上有义务对研究结果进行解释 4)参与者是否可以拒绝获得可能在临床上可操作的研究结果；以及 5)如果参与者选择不接收结果和/或不选择，辐射调查人员的义务是什么 以允许与其HCP共享结果。鉴于这些类型的发现可能会变得更多 随着发现研究的不断扩展，了解如何最好地满足需求是很重要的 在一个报告结果也变得越来越多的时代，参与者和调查人员的目标 司空见惯。我们的目标是与患有非典型糖尿病和 研究它们的容光焕发的调查人员。考虑到21世纪治疗法案，这个项目的时机是理想的 将于2021年4月5日生效。治疗法案为患者提供了快速、免费的虚拟访问他们的临床 实验室记录、成像数据和医生笔记。我们将探讨模糊带来的挑战 从辐射参与者和研究人员的角度进行临床护理和研究的实践，以及 医生-研究人员和患者-参与者区分两者的能力。选举的结果是 建议的研究对糖尿病遗传学研究以外的许多其他研究具有很高的普遍性。 广泛支持(患者和)参与者访问他们的个人(临床和)研究结果。

PROJECT SUMMARY/ABSTRACT RADIANT [Rare and Atypical DIAbetes NeTwork] is a nationwide network of researchers seeking to identify new rare, atypical forms of diabetes. To discover novel forms of atypical diabetes, the RADIANT investigators will perform genetic testing and deep phenotyping which may include some or all of the following: a physical exam, psychological and cognitive screening tests, laboratory data, and a variety of other clinical tests. This deep phenotyping will enable the investigators to look for patterns amongst patient-participants presenting with atypical diabetes. It will generate a significant amount of participant-specific health data, some of which will have unknown significance. RADIANT investigators are developing policies about which results to return and how to return them. In this supplement we focus on the return of non-genetic clinical results. Returning all results may not be beneficial (information overload); and yet deciding which results to return is not inherently value neutral. Returning results is further complicated by the fact that not all of the results are fully interpretable; leaving participants with information of unknown significance and investigators unsure of how to explain the uncertainty. We aim to explore what participants think they are signing up for when they agree to the return of results and whether investigators are prepared to return these results. The controversies being faced by the RADIANT consortium are five-fold: 1) which results to share; 2) how to disclose abnormal results; 3) whether and to what extent investigators have an obligation to provide an interpretation of research findings to participants; 4) whether participants can refuse to get research results that may be clinically actionable; and 5) what are the obligations of RADIANT investigators if participants elect not to receive results and/or elect not to allow the results to be shared with their HCPs. Given that these types of findings may become more common as discovery research continues to expand, it is important to understand how best to serve the needs and goals of both participants and investigators in an era where reporting back results is also becoming more commonplace. We aim to explore these questions with individuals who have atypical diabetes and the RADIANT investigators who study them. The timing of this project is ideal given that the 21st Century Cures Act goes into effect on April 5, 2021. The Cures Act gives patients fast and free virtual access to their clinical laboratory records, imaging data, and physician notes. We will explore the challenges raised by blurring practices in clinical care and research from the perspective of RADIANT participants and investigators, and the ability of physician-investigators and patient-participants to distinguish between the two. The outcome of the proposed study is highly generalizable to many other studies outside of diabetes genetics research given broad support for (patient and) participant access to their individual (clinical and) research results.