Facing the challenges of treating rare diseases: a scoping review of the role of pharmacists

Objectives Rare diseases affect a small percentage of the population compared with prevalent diseases. Despite being individually rare health conditions, this population faces common challenges and unmet medical and social needs worldwide. This scoping review aimed to map and synthesize available evidence on the role and impact of pharmacists on rare diseases care. Methods The review was developed according to the Joanna Briggs Institute (JBI) Methodology and reported following Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Three electronic databases were consulted. The list of rare diseases for the search was established by consulting documents from the health systems of Brazil, the UK, Ireland, the USA, and China. The pharmacist’s interventions were reported based on a framework for medicine management. The protocol for the methodological approach has been previously published. Key findings In total, 6303 records were identified, of which 68 studies fully met the eligibility criteria. Most were observational studies conducted in the USA and focused on 11 different rare diseases. The pharmaceutical services most commonly performed included educating and counseling patients and caregivers (n = 52; 76.5%) and prescription monitoring and medication review service (n = 48; 70.6%). The studies suggest that pharmaceutical care interventions may improve access to treatment, increase medication adherence, prevent medication errors, reduce disease relapses, as well as the need for emergency services and hospitalization. Conclusions Findings indicate positive outcomes in managing treatments for rare diseases. Additional research is needed to better understand the impact of pharmaceutical services, inform decision-makers about their value, and support the expansion of these services within public health systems.