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

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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.