3billion
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Technology
Reanalysis
Automated reanalysis system for undiagnosed patients

How do we reanalyze undiagnosed patients’ data?

To apply the latest research
Every year, about 200 to 300 research results on rare genetic diseases are published. Reanalysis of variants reflecting new findings that were not known at the initial testing is helpful for diagnosis.
To apply the patient’s new symptoms
Over time, symptoms may change and even new symptoms may appear. Through reanalysis of the patient’s data using the updated symptoms information physicians can confirm pathogenic variants or provide more accurate diagnosis.
To overcome low initial diagnostic rate
On average, patients with rare disease spend 5 to 7 years waiting for a diagnosis due to low initial diagnostic rates. Initial diagnostic rates are low due to limitations in rare disease diagnostic technology and research. Regular reanalysis can improve the initial diagnostic rate of 30%~40% by 20%, allowing patients to access treatment more quickly. (Schobers, 2022)

Reanalysis process

If no pathogenic variant was found in a patient through 3billion’s test, this sample will be reanalyzed daily through our automated reanalysis pipeline.
If the result changes through the reanalysis pipeline, it will be reviewed and manually curated by 3billion’s Medical Genetics Division. Then the updated report will be delivered to the ordering physician.

  • STEP 1
    Initial report released
  • STEP 2
    DB & the patient’s symptoms updated
  • STEP 3
    Reanalysis
  • STEP 4
    Final report released

Reanalysis Case

3billion’s reanalysis technology is helping medical professionals and patients find answers.
Currently, 3billion is reanalyzing more than 10,000 undiagnosed cases every day.
Learn how Patient A received e a diagnosis.

result
NEGATIVE
date
description
Clinically important
No genetic variation identified
2 weeks later
result
INCON-CLUSIVE
date
description
Paper presentation
Am J Hum Genet. 2021;108(3):502-516
7 weeks later
result
POSITIVE
date
description
Radio-Tartaglia syndrome
Updates on new diseases

Lifelong diagnostic technology for patients

We started our reanalysis system with the thoughts of “how can we take care of undiagnosed patients until the end?” and “how can we help find answers for one more patient every day?” Through daily reanalysis, 3billion provides the most up-to-date results to undiagnosed patients and medical professionals.

Reanalysis statistics

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