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  11. From The Rare To The Essential: Analyzing The Needs Of Physicians And Families Managing Rare Diseases

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

Irene Mussio1, Patricia Triunfo2, Mariana Gerstenblüth2

  • 1Department of Economics, Leeds University Business School, LS2 9JT, Woodhouse, Leeds, UK. i.mussio@leeds.ac.uk.

BMC Health Services Research
|January 24, 2026

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View abstract on PubMed

Summary
This summary is machine-generated.

Patients with rare diseases (RD) face significant diagnostic delays and treatment barriers in Uruguay. Improving access to genomic diagnostics and specialized care is crucial for better patient outcomes and family well-being.

Area of Science:

  • Rare disease research
  • Genomic medicine
  • Healthcare policy

Background:

  • Patients with rare diseases (RD) and their physicians experience unmet social and healthcare needs within universal healthcare systems.
  • Understanding these needs is vital for policymakers and healthcare professionals to improve access to quality care, therapies, and medications.

Purpose of the Study:

  • To identify the social and healthcare needs of patients with rare diseases (RD) and their physicians in Uruguay.
  • To inform strategies for improving access to timely diagnosis, treatment, and care for rare diseases.

Main Methods:

  • Two semi-structured surveys were conducted between May 2023 and August 2024.
  • Surveys targeted family members of patients with RD (N=64) and physicians (N=56) in Uruguay, using snowball methodology via email, interviews, and social media.
Keywords:
Diagnostic odysseyFamiliesPhysiciansRare diseases

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Main Results:

  • Uruguay exhibits significant deficiencies in rare disease diagnosis and treatment, leading to prolonged diagnostic odysseys and physician challenges.
  • Inequities in accessing whole-exome sequencing (WES) persist due to high costs and lack of universal coverage.
  • Low reporting rates and outdated healthcare plans exacerbate access issues for rare diseases.

Conclusions:

  • Rare diseases impose substantial physical, emotional, and economic burdens on patients and families, with diagnostic delays being a primary concern.
  • The healthcare system requires updates to include genomic diagnostics, enhance medical training, and ensure equitable treatment access.
  • A formalized framework for rare disease diagnosis, treatment, and care is needed, prioritizing family well-being and regional equity.
Semi-structured survey