Policy framework for rare disease health disparities

Abstract

This analysis examines federal legislation offering potential benefits for populations living with rare disease. More than 6,000 diseases are defined "rare" by prevalence of less than 200,000 in the United States. Rare disease carries more than symptom burdens; psychosocial implications resulting from low prevalence, complex genetic etiology, and potential inheritability add further load. Health care systems add psychosocial, morbidity, and disability burden resulting from disparities in access to affordable drugs, therapeutic discovery, clinical best practices and surveillance development, provider competency, and timely diagnosis. The Orphan Drug and Rare Disease Acts specifically targets research strategies to benefit rare disease, whereas the Genetic Information Nondisclosure Act (GINA) addresses economic risks of living with genetic rare conditions. Policy content and literature discussion demonstrate broader policy articulation is needed to prioritize research and solutions for health disparity and its consequences for the collective rare disease community. The Health Disparity Research and Education Act is relevant to future rare disease policy development and nursing action.