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[Diagnostic delay in rare diseases: systematic review.]

Minerva Berrocal-Acedo1, Juan Benito-Lozano2, Verónica Alonso-Ferreira2,3

  • 1Departamento de Medicina Preventiva y Salud Pública. Facultad de Medicina. Universidad de Sevilla (US). Sevilla. España.

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Summary

Diagnosing rare diseases (RDs) often takes over a year, exceeding the International Consortium for Rare Diseases Research (IRDiRC) goal. This systematic review highlights a significant diagnostic delay for many patients with rare conditions.

Keywords:
Diagnostic delayRare diseasesSpainSystematic reviewTime to diagnosis

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Area of Science:

  • Medical Research
  • Genetics and Genomics
  • Patient Advocacy

Background:

  • The International Consortium for Rare Diseases Research (IRDiRC) aims for rare disease (RD) diagnosis within one year.
  • A diagnostic delay, defined as over one year, is a critical issue in rare disease management.
  • Current literature lacks comprehensive data on the time to diagnosis for the full spectrum of rare diseases.

Purpose of the Study:

  • To systematically review existing scientific evidence on the time to diagnosis for patients with rare diseases.
  • To determine the prevalence of diagnostic delays (exceeding one year) in rare diseases.
  • To assess whether current diagnostic timelines align with IRDiRC objectives.

Main Methods:

  • Systematic review conducted following PRISMA guidelines.
  • Searches performed in PubMed, Scopus, and Web of Science (WoS) databases.
  • Article quality assessed using the STROBE statement.

Main Results:

  • Seventeen articles were included in the review.
  • Included studies focused on specific rare diseases, primarily metabolic, neurological, and immune disorders.
  • The majority of studies indicated a diagnostic timeline exceeding one year for these rare diseases.

Conclusions:

  • Scientific literature quantifying rare disease diagnostic timelines remains limited.
  • A diagnostic delay of over one year is common, falling short of IRDiRC targets.
  • Advancements are needed to shorten the time from symptom onset to accurate rare disease diagnosis.