Free 2025 Report
A Global Reality Check on Rare Disease Diagnosis
Drawing on insights from 387 clinicians and researchers across 74 countries, this annual report uncovers the forces shaping today's diagnostic journey—and what must change to accelerate timely, equitable diagnoses.
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Inside the 2025 Report
49%
of patients wait over a year for a confirmed diagnosis
84.8%
81.9%
of clinicians recommend WES as the first-line test
What You'll Learn
Why do half of patients still wait over a year for a diagnosis?
What keeps cost the #1 barrier — and how can we break it?
Why are more clinicians choosing WES over panels?
What’s holding back real-world adoption of the WES standard?
Why are targeted panel recommendations falling fast?
How policy, protocols, and infrastructure can finally break the bottlenecks.
This Report Is For
Geneticists
Clinicians & Physicians
Clinical Laboratory Directors
Researchers & Academics
Hospital & Health System Leaders
Public Health Officials & Policymakers
Everyone Driving change in rare disease
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The Global Rare Disease Diagnostics Report offers a data-driven roadmap to greater diagnostic equity. Get the insights you need to navigate the future and turn insight into action for patients everywhere.