Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis

Area of Science:

• Medical Diagnostics
• Rare Diseases
• Clinical Practice Guidelines

Background:

• Delayed diagnosis is common for rare diseases due to low prevalence and varied presentations.
• Primary healthcare professionals often lack specialized expertise in rare diseases.
• Optimizing the diagnostic pathway is crucial for timely intervention.

Purpose of the Study:

• To establish guidelines for optimizing the rare disease diagnostic pathway.
• To assist healthcare professionals, even without rare disease expertise, in suspecting and diagnosing rare conditions.
• To identify key clinical features and non-clinical tools that aid in early rare disease detection.

Main Methods:

• A real-time Delphi study involving two phases.
• Phase 1: Ten experts defined 26 statements on clinical features ('red flags') and 'clinical gateways'.
• Phase 2: A multidisciplinary panel of 55 experts reached consensus on the statements.

Main Results:

• Consensus was achieved on 22 out of 26 statements.
• Key indicators for suspecting rare diseases include family history, birth defect clusters, unusual disease presentations, and neurodevelopmental issues.
• Education, community awareness, and technology integration were identified as facilitators.

Conclusions:

• Integrating specific indicators into primary care can improve rare disease identification and referral.
• Enhanced awareness and accessible tools are vital for early diagnosis.
• Guidelines can empower general healthcare professionals to better manage potential rare disease cases.