Improving Care for Rare Genetic Diseases: Patient-Provider Communication and Patient Validation in the Ehlers-Danlos Syndromes

项目摘要 基因组医学已经发现了数百种罕见的， 遗传性疾病然而，诊断和治疗的进展受到了患者的严重损害， 缺乏临床或社会认可的感觉，让他们感到不相信。这些失败的感觉 延迟诊断，导致延长的“诊断奥德赛”，驱使患者避免医疗保健， 对健康不利的后果。Ehlers-Danlos综合征（EDS）患者的护理， 突出的罕见遗传疾病，是这种失败的主要部位。临床医生可能会淡化甚至驳回 患者经常致残肌肉骨骼疼痛，导致患者报告负面的经验和不信任， 临床遭遇很少有工作集中在这些患者或他们的临床医生的经验和观点， 从而无法改善沟通和解决导致这些问题的无效感。 因此，研究是迫切需要确定和评估的方法，以改善如何与EDS患者-作为 以及其他类似的罕见疾病-来感觉验证和无效，以及如何无效可以 相反，补充和支持遗传学的突破，这是革命性的照顾，在这些 地区这项研究的目的是描述EDS患者的观点和意见， 临床医生关于分子诊断在验证罕见病患者经验中的作用。 核心假设是无效感直接导致病人越来越麻烦- 提供者关系，分子诊断可能会减轻其中一些问题，同时加剧 他人这项建议有三个具体目标。目标1：描述影响的事件和相互作用 使用深入的定性访谈，患者在寻求EDS诊断时的确认感 和一项调查，以捕捉不同的观点。目标2：描述临床医生在护理中面临的挑战 对于EDS患者，使用深入的定性访谈和基于插图的调查，与临床医生在 初级保健、医学遗传学和风湿病学。目标3：制定战略，改善 罕见疾病患者，适应国家科学院使用的方法， 工作组讨论目标1和2的成果，确定具体、务实的传播战略， 由ELSI研究提供信息，以改善患有EDS和类似疾病的患者的确认感。 紊乱PI的伦理学和人类学背景以及印第安纳州大学的一流设施 医学院独特的位置，他成功地执行这项研究。这项建议扩展了他的技能， 通过提供定量数据分析方面的关键培训，开展医学基因组学和罕见疾病方面的伦理学研究， 以病人为中心的医疗遗传学和干预性研究。该K 01奖项将为PI提供 有机会发展成为应用伦理，法律的和社会领域的领先独立调查员 研究的重点是改善罕见遗传病患者的护理。

PROJECT ABSTRACT Genomic medicine has led to the discovery of the underlying genetic contributions to hundreds of rare, hereditary disorders. Advances in diagnosis and treatment, though, have been crucially impaired by patients feeling of a lack of clinical or social validation, leaving them feeling disbelieved. These feelings of invalidation delay diagnosis, causing an extended “diagnostic odyssey,” by driving patients to avoid healthcare and leading to adverse health outcomes. The care for patients with Ehlers-Danlos Syndrome (EDS), one of the most prominent rare genetic diseases, is a prime site of such failure. Clinicians may downplay or even dismiss patients often-disabling musculoskeletal pain, leading patients to report negative experiences and distrust in clinical encounters. Little work has focused on the experiences and views of such patients or their clinicians, making it impossible to improve communication and address feelings of invalidation that drive these problems. Therefore, research is urgently needed to identify and evaluate ways to improve how patients with EDS – as well as other, similar rare diseases – come to feel validated and invalidated, and how invalidation can be countered, to supplement and support the breakthroughs in genetics that are revolutionizing care in these areas. The goal of the proposed study is to characterize the views and opinions of patients with EDS and their clinicians regarding the role of molecular diagnosis in validating the experiences of patients with rare diseases. The central hypothesis is that feelings of invalidation directly contribute to an increasingly troubled patient– provider relationship, and that a molecular diagnosis may alleviate some of those troubles while exacerbating others. This proposal has three specific aims. Aim 1: Characterize the events and interactions that affect feelings of validation among patients as they pursued a diagnosis of EDS, using in-depth, qualitative interviews and a survey, to capture diverse perspectives. Aim 2: Characterize the challenges faced by clinicians in caring for patients with EDS, using in-depth, qualitative interviews and a vignette-based survey, with clinicians in primary care, medical genetics, and rheumatology. Aim 3: Develop strategies to improve validation among patients with rare disease, adapting methods used by the National Academies to convene a longitudinal working group to discuss outcomes of Aims 1 and 2, to identify concrete, pragmatic communication strategies, informed by ELSI research, to improve feelings of validation among patients living with EDS and similar disorders. The PI’s background in ethics and anthropology and the excellent facilities at Indiana University School of Medicine uniquely position him to execute this study successfully. This proposal extends his skills in ethics research in medical genomics and rare disease by providing critical training in quantitative data analysis, patients-centered care in medical genetics, and interventional research. This K01 award will provide the PI the opportunity to develop into a leading independent investigator in the field of applied Ethical, Legal and Social Implications (ELSI) research, focused on improving care for patients with rare genetic diseases.