Policy framework for rare disease health disparities

Area of Science:

• Public Health
• Health Policy
• Genetics

Background:

• Over 6,000 rare diseases affect fewer than 200,000 individuals in the U.S.
• Rare diseases present complex challenges including psychosocial burdens, genetic factors, and inheritability.
• Healthcare systems exacerbate burdens through disparities in drug access, diagnostics, and provider expertise.

Purpose of the Study:

• To analyze existing federal legislation for rare disease populations.
• To identify gaps and needs for enhanced policy development.
• To explore the role of health disparity research in rare disease policy.

Main Methods:

• Analysis of federal legislation, including the Orphan Drug and Rare Disease Acts and the Genetic Information Nondisclosure Act (GINA).
• Literature review and policy content examination.
• Discussion of implications for future policy and nursing action.

Main Results:

• Specific acts target rare disease research and genetic information protection.
• Existing policies demonstrate a need for broader articulation to address systemic issues.
• The Health Disparity Research and Education Act is identified as relevant for future policy.

Conclusions:

• Broader policy articulation is crucial to prioritize research and solutions for health disparities in the rare disease community.
• Addressing disparities in access, diagnostics, and care is essential.
• Future policy development should integrate health disparity research and nursing considerations.