[Diagnostic delay in rare diseases: systematic review.]

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.