31 Patients Found New Answers Through Reanalysis

Which patients with Inconclusive/Negative results received a new diagnosis—and how?

Is a single genetic test result the end of the diagnostic journey?
At 3billion, we believe diagnosis is an ongoing process. That’s why we focus not only on the test itself, but on what comes after:
Reanalysis.

For all cases previously reported as Inconclusive or Negative,
3billion performs automated reanalysis through a continuous system.
Each month, dozens of reports are updated, revealing new diagnostic insights and possibilities.

Summary of Diagnostic Changes This Month

In July 2025, a total of 31 patients received updated reports through reanalysis.
Among them, 17 patients were newly diagnosed with positive results,
while 14 cases were reclassified as inconclusive with newly identified clues
that may guide clinicians toward a clearer diagnosis.

These updates occurred without new data input from the patient,
highlighting how evolving databases and knowledge can shift interpretation.

Why Did the Results Change?

• 48%: Variant database updates
• 29%: Disease information updates
• 13%: Additional clinical or phenotype data
• 10%: Results from family-based testing
  

💡 This means that as clinical and scientific data evolve,
the same patient data can lead to a different diagnosis over time.

How Does Automated Reanalysis Work?

3billion’s reanalysis system integrates updated variant and disease databases, along with internal interpretation models.
It also incorporates new phenotype and family history data submitted by clinicians.

Diagnosis doesn’t end with a single report.
It continues as the knowledge base grows— and 3billion’s automated reanalysis system ensures patients benefit from that progress.

Test That Includes Reanalysis

3B-EXOME is 3billion’s flagship genomic diagnostic service, covering not only initial testing but also automated reanalysis.