From the rare to the essential: analyzing the needs of physicians and families managing rare diseases

Background

This study aims to identify the social and healthcare needs of patients with rare diseases (RD) and their physicians within a Universal Health Care System. It seeks to provide valuable insights for policymakers, patient organizations, and healthcare professionals while informing about these diseases, raising awareness, and designing strategies to improve access to quality, timely medical care, including therapies and medication at a local and regional level.

Methods

Two semi-structured surveys were conducted between May 2023 and August 2024, targeting family members of patients with RD (N = 64) and physicians (N = 56) in Uruguay. Surveys were self-administered via email or conducted by an interviewer, and were disseminated through healthcare professionals, RD associations, and social media, using “snowball” methodology and word-of-mouth references.

Results

Uruguay faces significant deficiencies in access to diagnosis and treatment for rare diseases, leading to a prolonged “diagnostic odyssey” for families and multiple barriers for physicians, ranging from lack of training to limited access to specialized tools. The low reporting rate to the National Registry of Congenital Defects and Rare Diseases and the lack of updates to the Comprehensive Health Care Plan exacerbate inequities in access to diagnosis and treatment. A key finding is inequality in access to whole-exome sequencing (WES), despite its proven effectiveness in reducing diagnostic times and improving accuracy. Its use remains restricted due to high costs and lack of universal coverage, highlighting the need for a national genomic medicine strategy and medical training in molecular diagnosis.

Conclusion

The survey results indicate that RDs have a significant physical, emotional, and economic impact on patients and families. The main concerns raised include diagnostic delays, partly due to difficulties accessing specific tests and treatments. The medical community also acknowledges these issues. The healthcare system needs to update its coverage to include genomic diagnostics, improve medical training, strengthen coordination, and ensure equitable treatment access. These results mimic what is seen in other countries in Latin America and the Southern Cone. They call for a comprehensive, formalized framework for diagnosis, treatment, and care of rare diseases at local and regional levels, accounting for family experiences and prioritizing family wellbeing.