Most-Popular Report of 2025: What Clinicians Revealed About Rare Disease Diagnostics

Insights | 25. 12. 23

Insights from 387 clinicians across 74 countries

Key Takeaways

Rare disease diagnosis continues to advance, but access and implementation remain uneven.
System-level constraints now drive many diagnostic delays more than scientific uncertainty.
Clinicians worldwide face shared challenges shaped by local healthcare realities.

By the end of 2025, one thing was clear: rare disease diagnosis is advancing — but not evenly.

Genetic testing technologies have matured rapidly, and clinical knowledge continues to expand. Yet for many patients around the world, the path to a diagnosis remains long, uncertain, and shaped as much by system-level constraints as by biology.

That tension is exactly why the 2025 Global Rare Disease Diagnostics Report became the most-popular report of the year.

Rather than focusing on what should happen in an ideal diagnostic journey, the report captured what clinicians are actually experiencing — across healthcare systems with vastly different resources, policies, and infrastructures.

Based on responses from 387 clinicians and researchers in 74 countries, the report offers a rare, global snapshot of how rare disease diagnostics is practiced today.

What the Data Revealed — Beyond the Numbers

Some of the findings were expected. Others were harder to ignore.

Nearly half of patients still wait more than a year for a confirmed diagnosis. Cost continues to shape — and often limit — clinical decision-making. And despite strong clinical support for whole exome sequencing, its real-world adoption remains uneven.

Taken together, these insights reveal a deeper truth: the gap in rare disease diagnostics is no longer driven by scientific uncertainty, but by access, implementation, and system design.

The report doesn’t treat these challenges as abstract problems. Instead, it surfaces how clinicians adapt in practice — choosing between ideal testing strategies and what is realistically available for their patients.

A Global Perspective on a Shared Problem

One of the most compelling aspects of the 2025 report is its global lens.

While healthcare systems differ widely, clinicians across regions described strikingly similar frustrations: delayed testing, limited reimbursement, fragmented diagnostic pathways, and the difficulty of applying best-practice recommendations in constrained environments.

At the same time, the report highlights meaningful regional differences — showing how policy, infrastructure, and local standards directly shape diagnostic outcomes.

This combination of shared challenges and regional nuance is what made the report so widely read and referenced throughout the year.

Why Clinicians Engaged with This Report

The report resonated not because it offered simple answers, but because it validated real experience.

It reflected conversations clinicians have every day — with patients, families, laboratories, and institutions — about timing, cost, uncertainty, and trade-offs.

For many readers, the report served as both a mirror and a benchmark: a way to situate their own clinical reality within a broader global context.

Looking Toward 2026

If 2025 marked anything, it was a shift in focus.

The question is no longer whether rare disease diagnoses can be made faster and more accurately. The question is how healthcare systems can close the gap between possibility and practice.

The 2025 Global Rare Disease Diagnostics Report doesn’t claim to solve that problem — but it does make the challenges visible. And that visibility is often the first step toward change.