Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Yale J Biol Med. 2021 Dec 29;94(4):687-692. eCollection 2021 Dec.
There is great value in understanding the patient perspective in rare disease diagnosis and research, and in partnering actively with patients and their families throughout the process. Meaningful and respectful interaction between patients and researchers leads to learning on both sides, and ultimately, to better research outcomes. Researchers can help patients understand how research is conducted and what the latest advances and perceived gaps in research are, and patients, who have direct experience living with their health conditions, can impart to researchers what is most important to them. We describe our engagement with patients in the Undiagnosed Diseases Network (UDN) program, as well as the lessons we have learned to date. In the UDN, patients have been instrumental in bringing meaning to the work of clinicians and researchers, building patient communities, making the network aware of unmet patient needs, advocating for additional research funding, and disseminating UDN research findings. Although patient engagement in the UDN has already had a significant positive impact on our work, we continue to strive to involve patients earlier in the process, in the research design itself, and in addressing power dynamics that may arise between clinicians, researchers, and patients.
了解罕见病诊断和研究中的患者视角，并在整个过程中积极与患者及其家属合作，具有重要价值。患者和研究人员之间有意义和尊重的互动可以促进双方的学习，最终可以带来更好的研究结果。研究人员可以帮助患者了解研究是如何进行的，以及最新的进展和感知到的研究差距是什么，而患者直接有经验地生活在他们的健康状况中，可以向研究人员传授对他们最重要的东西。我们描述了我们在未确诊疾病网络（UDN）计划中与患者的接触，以及迄今为止我们所学到的经验教训。在 UDN 中，患者在为临床医生和研究人员的工作赋予意义、建立患者社区、使网络了解未满足的患者需求、倡导增加研究资金以及传播 UDN 研究结果方面发挥了重要作用。尽管患者在 UDN 中的参与已经对我们的工作产生了重大的积极影响，但我们仍继续努力让患者更早地参与到这个过程中，参与到研究设计本身中，并解决临床医生、研究人员和患者之间可能出现的权力动态问题。
