Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.

Area of Science:

• Rare Diseases
• Medical Diagnostics
• Epidemiology

Background:

• The journey from symptom onset to a rare disease (RD) diagnosis is frequently prolonged and challenging for patients.
• Understanding the factors contributing to extended diagnostic timelines is crucial for improving patient care and outcomes in rare diseases.

Purpose of the Study:

• To investigate the diagnostic process experienced by individuals with rare diseases (RDs).
• To identify determinants associated with a diagnostic delay exceeding one year in rare disease patients.

Main Methods:

• A case-control study was conducted using data from the Spanish Rare Diseases Patient Registry.
• A purpose-designed form facilitated data collection from 1216 patients with rare diseases.
• Descriptive analysis and multivariate backward logistic regression models were employed to identify significant factors.

Main Results:

• Determinants of diagnostic delay included travel for specialist care (OR 2.1), consulting over 10 specialists (OR 2.6), and diagnosis in a different region (OR 2.3).
• Rare diseases of the nervous system were also associated with longer diagnostic journeys (OR 1.4).
• Waiting over 6 months for referral after the first medical visit was a significant contributor to diagnostic delay (PAR 30.2%).

Conclusions:

• This study, utilizing a nationwide registry, provides novel insights into the complex diagnostic process for rare diseases.
• The findings underscore the significant challenges patients face, with specific factors contributing to prolonged diagnostic delays.
• Further research is necessary to explore the broader social, educational, occupational, psychological, and financial implications of diagnostic delay for patients and their families.