Your First
Annual Report on
Rare Disease Diagnosis

Explore a comprehensive report of diagnostic experiences and the current landscape of genetic testing, compiled from the perspectives of healthcare providers in 30 countries.

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rare disease dignostics Report

Annual Report
Preview

What are the biggest challenges in diagnosing rare diseases?
Where are the opportunities for better care emerging?
What insights can global experts share with you?
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rare disease dignostics Report

Voices from the
Experts

“Lack of insurance coverage as financial support for testing remains our biggest challenge.”

Pediatrician

Hungary

“Limited access to specialists in rare disease diagnosis complicates the diagnostic process.”

Pediatric Neurologist

Philippines

“In the U.S., we primarily utilize Microarray and Whole Exome Sequencing (WES) when diagnosing suspected rare diseases.”

Medical Geneticist

United States

Where are we, in this Genomic Era?
Listen to your peers all around the world

How are you making a difference in the lives of rare disease patients?The 2024 Global Rare Disease Diagnostics Report is crafted for healthcare providers like you—medical geneticists, pediatricians, researchers, and other specialists committed to advancing care for those with rare diseases. This report goes beyond data; it’s a collection of real-world insights from experts worldwide, capturing shared experiences, diagnostic breakthroughs, and the resilience required to bring hope to rare disease patients. Dive in to connect with your global community, learn from their challenges, and find inspiration to keep making an impact.

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