Maximising E-Health Initiatives to Support the Diagnosis and Tracking of Rare Diseases

Abstract

Rare diseases present unique challenges in diagnosis and treatment due to their complexity and low prevalence, impacting millions worldwide. This thesis explores innovative strategies to improve the diagnosis, management, and accessibility of treatments for rare diseases, with a focus on Northern Ireland. Through comprehensive analysis, this research integrates findings from multiple disciplines to enhance patient care and support policy decisions. Firstly, the study examines the global challenge of rare diseases, identifying key diagnostic and treatment barriers, and proposing enhanced diagnostic tools and healthcare strategies. It then analyses the effectiveness of rare disease registries across different countries, highlighting the benefits of such resources in improving patient outcomes and guiding healthcare policy. The research further examines into rare cancers, comparing incidence and survival rates to highlight the need for better diagnostic practices and international cooperation. Additionally, specific conditions like amyloidosis, spinal muscular atrophy, and Li-Fraumeni syndrome are investigated, discussing current barriers and multidisciplinary strategies to facilitate quicker, more accurate diagnoses and better patient management. The integration of genomic data with electronic health records is explored as a transformative approach to personalising patient care, demonstrating significant improvements in diagnostic accuracy. Lastly, the thesis assesses the accessibility of orphan drugs, analyses regulatory challenges, and advocates for continued efforts to ensure patients receive necessary treatments. Collectively, these findings advocate for a unified strategy to address the complexities of rare diseases, leveraging technological advancements and policy reform to significantly improve patient outcomes in Northern Ireland and beyond.