Health Services Interventions to Improve the Quality of Care in Rare Disease: A Scoping Review

Background Rare diseases are often complex, multi-system disorders requiring specialized, lifelong care. These diseases share significant challenges in healthcare delivery, including diagnostic delays, limited access to specialists, and lack of effective treatments. Objectives To aggregate and critically examine innovative health services interventions for rare diseases, with the goal of identifying effective, scalable strategies to improve care Design Scoping review Data Sources Comprehensive searches were conducted in April 2022 in Ovid MEDLINE, [Embase.com][1], Web of Science Core Collection, Cochrane CENTRAL, and [ClinicalTrials.gov][2]. Methods We sought to identify peer-reviewed original research published in English reporting results of interventions to improve guideline-concordant care, care coordination, and care transitions in rare disease populations. Using Covidence software, two researchers independently screened abstracts using pre-established inclusion and exclusion criteria, with conflicts resolved through consensus discussion with a third researcher. The same process was used to screen full-text research for eligibility and to extract study characteristics and results from eligible research. Results Our search identified 2899 articles. After screening for eligibility criteria, 12 articles describing health services interventions in rare diseases were identified. Most studies were conducted in Europe and involved adult participants. Three main intervention targets were identified: 1) increasing patients’ access to multidisciplinary expertise (e.g. using expert panels/tumor boards, integrating additional disciplines into care teams, and creating a hotline for specialist advice); 2) using technology to give point-of-care physicians access to information (e.g., electronic medical record templates/decision-support), and 3) standardizing care through clinical care pathways. Conclusions This review identified several efficacious interventions to improve healthcare delivery for individuals with a single rare disease. Testing these strategies across broader groups of rare disease patients could more efficiently improve healthcare delivery for the rare disease community, facilitating patients’ timely access to treatments, improving their health outcomes, and potentially reducing healthcare costs with economies of scale. Why was this study done? While each rare disease is unique and affects only a small number of individuals, the rare disease community as a whole faces similar challenges seeking healthcare, such as delayed diagnosis, limited access to specialists, and insufficient treatment options. This study seeks to find innovative strategies to enhance healthcare delivery that have been tested in at least one rare disease that might be applicable across a broad spectrum of these conditions. What did the researchers do? We reviewed public reports of research that aimed to improve guideline-concordant care, care coordination, or care transitions for people with rare diseases. At least two researchers screened each paper to assess whether it met inclusion and exclusion criteria, and all conflicts were resolved by consensus discussion. What did we find? After searching 2899, we found 12 describing successful interventions for people with rare diseases. These interventions either 1) increased patients’ access to multidisciplinary expertise (through things like expert review panels, integrating pharmacists into the care team, or creating a specialist hotline); 2) used technology to facilitate physicians access to rare disease information (through things like electronic medical record templates and alerts); or 3) standardize care delivery through creating set clinical pathways. What do these findings mean? These results highlight how efforts to improve access to multidisciplinary experts, implement new technology, and standardize care for rare disease could be used to develop impactful healthcare interventions that are transferable across multiple rare diseases. ### Competing Interest Statement Dr. Merkers institution has received funding from the Patient Centered Outcomes Research Institute and the Department of Defense Congressionally Directed Medical Research Program to develop a health services intervention that seeks to improve care for the rare disease neurofibromatosis 1. The remaining authors declare no conflicts of interest. ### Funding Statement This study did not receive any funding ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as [ClinicalTrials.gov][2]. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes As a scoping review, no new data was generated. A full list of retrieved studies assessed for inclusion/exclusion in the review is available upon reasonable request to the authors. [1]: http://Embase.com [2]: http://ClinicalTrials.gov