Pharmacist contribution in rare diseases

Abstract

Rare disease management is characterised by significant challenges, including prolonged diagnostic delays, restricted access to orphan medicines, and fragmented care coordination, all of which may adversely affect patient outcomes and strain healthcare systems. These challenges are intensified in small healthcare systems like Malta, where small patient numbers, limited specialised expertise, and constrained resources further hinder effective management. Pharmacists involved in management and patient care, play a critical role in overcoming these barriers by navigating multifaceted medication use processes and bridging gaps between patients, clinicians, and healthcare systems. This study aimed to describe the current state of rare disease patient management and access to orphan medications in Malta, identify support services provided by patient support groups, and propose a framework for pharmacist-led contributions in rare disease patient care. A mixed-methods approach was employed, consisting of three phases: (1) Semi-structured interviews with ten key stakeholders, including two health service policymakers, six pharmacists, and two healthcare professionals, to assess current state of rare disease management; (2) Semi-structured interviews with two patient support groups to explore service provision and pharmacist involvement; and (3) Development and validation of a framework for pharmacist-led contributions based on findings from phases 1 and 2. Thematic analysis was applied to identify recurring themes. Thematic analysis of stakeholder interviews revealed five main themes: healthcare infrastructure for rare disease management, medication access processes, challenges in rare disease management, existing pharmacist contributions, and recommendations for improvement. Patient support group interviews generated five themes: service provision, support barriers, financial burden, pharmacist engagement, and strategic needs. Findings highlighted pharmacists' multifaceted roles in medication management, cost optimization, clinical knowledge application, patient-centred care, and system coordination. Barriers to effective pharmacist involvement were identified, including knowledge gaps, limited awareness of information resources, and time constraints. The validated framework addresses these challenges through targeted training and education, specialised roles, and enhanced coordination between healthcare entities. This framework provides a structured approach to strengthening pharmacist integration in rare disease management, contributing to improving care quality, medication access, and patient outcomes for patients with rare diseases in Malta.