Unlocking Diagnoses Beyond the First Test: The Power of Reanalysis in Rare Disease Genetics
- Insights | 25. 09. 15
Even after undergoing genetic testing, many patients and families remain without a clear diagnosis. This diagnostic gap is not rare — studies show that up to 60%-70% who undergo exome or genome sequencing remain undiagnosed after the first round of analysis. For these patients, the journey often feels stalled.
But there is hope. Continuous advances in genomics, improved variant interpretation tools, and updated clinical knowledge are enabling diagnoses that were previously missed.
At 3billion, we offer unlimited reanalysis in our services, 3B-EXOME, 3B-GENOME, designed to help both physicians and patients maximize the value of existing sequencing data.
If you already have raw sequencing data, with 3B-INTERPRETER, you don’t need to undergo another test. Instead, we can reanalyze it — again and again — until a diagnosis is reached.
Why Reanalysis Matters
- Updated Knowledge: Each year, thousands of new gene-disease associations are published. Without reanalysis, past results may remain incomplete.
- Improved Tools: AI-driven variant prioritization and databases like ours continuously evolve, increasing diagnostic yield.
- Patient Impact: Reanalysis provides answers, which can guide treatment, management, and family planning.
- Improved Diagnostic Rate: Studies have reported that WES reanalysis every 2 years on average increases the diagnostic yield by 12%.
How 3billion’s Approach Helps
- Unlimited Reanalysis: Once data is uploaded, we provide repeated reanalysis at no additional cost until a diagnosis is achieved.
- Trusted Globally: We work with over 800+ institutions from 80+ countries and have tested more than 80,000 patients worldwide.
- Clinically Validated: Our tools, such as 3Cnet and EVIDENCE, ensure high-performance variant interpretation.
Real-World Impact
Every month, new diagnoses are achieved through reanalysis at 3billion. These aren’t just numbers — they represent real patients, families, and physicians who finally find clarity.
On average, in 2025, 41 additional diagnoses were made monthly through reanalysis at 3billion.
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3billion Inc.
3billion is dedicated to creating a world where patients with rare diseases are not neglected in diagnosis and treatment.
