Abstract
Background: The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. This approach enabled clinicians, patients, carers and researchers to work together to identify top research priorities for rare diseases, which focused on a life-course perspective rather than a disease-specific need. Methods: A participatory multiple phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey on Research in Rare Diseases in Ireland (PCSRRDI); Phase II, Research Prioritisation Workshop (RPW); Phase III, Follow-up Public Consultation and Prioritisation Survey (FWPCPS). Results: In total, 240 individuals completed the phase I PCSRRDI, which comprised of a cross-section of health care professionals, researchers and people living with rare diseases. One thousand and fifteen statements were collected, reflecting issues and shared challenges in rare diseases. A shortlisting step by step was used to identify any statements that had received a total score of above 50% into 10-12 researchable questions or statements per the theme for the phase II workshop. Phase II was focused on three main themes: (1) Route to Diagnosis, (2) Living with Rare Disease, (3) Integrated and Palliative Care. In total, 62 individuals attended the overall workshop; 42 participated in the prioritisation sessions. A cross-section of health care professionals, researchers and people living with rare diseases were engaged at each workshop. Seventy-five individuals completed the final phase III public ranking by priority responses, and they ranked the top 15 research priorities defined by the multi-stakeholders at the phase II consensus meeting. Conclusions: This study identified priorities for rare diseases research aimed at improving the health and wellbeing of people living with rare diseases.
Highlights
Rare diseases are individually unique, but collectively they share substantial unmet health and social care needs[1,2]
96 survey participants provided information on their background: 32% (n=31) self-identified as a person living with a rare disease(s); 32% (n=31) self-identified as health and social care professionals; 19% (n=18) self-identified as a friend or family member of a person living with a rare disease; 11% (n=10) self-identified as carers of a person living with a rare disease; and 6% (n=5) indicated ‘other’
Most research questions proposed by participants were related to ‘diagnosis’, e.g. “What is the best way to tell someone about the diagnosis?”; followed by ‘day-to-day life’ with rare disease, e.g. “How do rare diseases affect family life?”, and ‘treatment’, e.g. “How often do GPs or consultants put patients with a rare disease forward for clinical trials?”
Summary
Rare diseases are individually unique, but collectively they share substantial unmet health and social care needs[1,2]. It may be useful to mention that in rare disease research, that the patients are often the experts, due to the nature of the conditions, and so the greater importance of including the patient and carer’s voice in the priority setting exercise, rather than just academics and HCPs. Within the first paragraph there is repetition of some facts, such as the individual rare yet collectively common, as well as the mentioning of 7,000 rare conditions/7,000 rare diseases. It may be useful to mention that in rare disease research, that the patients are often the experts, due to the nature of the conditions, and so the greater importance of including the patient and carer’s voice in the priority setting exercise, rather than just academics and HCPs. The manuscript has been amended in light of this consideration. Results: In total, 240 individuals completed the phase I PCSRRDI, which comprised of a cross-section of health care professionals, researchers and people living with rare diseases. We encourage researchers, funding bodies and other stakeholders to use this priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases
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