The International journal of pharmacy practice · 2026
Pharmacist contribution in rare diseases.
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Alaba Margaux Jeatrice, Vella Szijj Janis, Azzopardi Lilian M
Аннотация
OBJECTIVES: Rare diseases (RDs) present major challenges in diagnosis, treatment access, and care coordination. Pharmacists are increasingly recognized as important contributors in the management of patients with RDs. The aim of this study was to assess pharmacist contributions in RD management and to develop a framework to strengthen their involvement in patient care.
METHODS: A mixed-methods design was adopted. Semi-structured interviews were conducted with healthcare stakeholders and patient support groups. Interview data was thematically analysed to identify key patterns and insights regarding the current landscape of RD care and pharmacist involvement. Findings informed the development of a pharmacist-led contributions framework, which was subsequently refined through two Delphi rounds involving an expert panel.
KEY FINDINGS: Stakeholders highlighted barriers to effective RD management including fragmented coordination, limited clinical expertise, and challenges in medicine access and procurement. Pharmacists were recognized for their key roles in navigating medication access, management of treatment costs, ensuring medication safety, and providing patient education and support. The expert-informed framework outlined strategies to strengthen pharmacist contributions through formal integration of pharmacists within multidisciplinary teams, enhanced collaboration with patient support groups, and streamlined procurement systems.
CONCLUSIONS: The work demonstrates significant pharmacist contribution in RD care and introduces an expert-informed framework to guide their involvement. By promoting formal integration of pharmacists into multidisciplinary teams, and improving system coordination, the framework provides a foundation for supporting patients with RDs and their medication needs with the potential of improving access, safety, and sustainability of care.
METHODS: A mixed-methods design was adopted. Semi-structured interviews were conducted with healthcare stakeholders and patient support groups. Interview data was thematically analysed to identify key patterns and insights regarding the current landscape of RD care and pharmacist involvement. Findings informed the development of a pharmacist-led contributions framework, which was subsequently refined through two Delphi rounds involving an expert panel.
KEY FINDINGS: Stakeholders highlighted barriers to effective RD management including fragmented coordination, limited clinical expertise, and challenges in medicine access and procurement. Pharmacists were recognized for their key roles in navigating medication access, management of treatment costs, ensuring medication safety, and providing patient education and support. The expert-informed framework outlined strategies to strengthen pharmacist contributions through formal integration of pharmacists within multidisciplinary teams, enhanced collaboration with patient support groups, and streamlined procurement systems.
CONCLUSIONS: The work demonstrates significant pharmacist contribution in RD care and introduces an expert-informed framework to guide their involvement. By promoting formal integration of pharmacists into multidisciplinary teams, and improving system coordination, the framework provides a foundation for supporting patients with RDs and their medication needs with the potential of improving access, safety, and sustainability of care.