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.

1

Initial report released

2

DB & the patient’s symptoms updated

3

Reanalysis

4

Final report released

Reflects the latest research

3billion’s reanalysis system is fully automated. We reanalyze patient’s genetic information by reflecting the latest research.

Reflects the patient’s most up-to-date symptoms

If new symptoms are found, the ordering physician or medical staff informs 3billion. This updated information will be applied for reanalysis.

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 in just 6 days after a new disease was listed.

1

2020.11.17

3B-EXOME Proband ordered for Patient A
2

2020.12.03

Initial Report of Patient A released: VUS (No clinically significant variant found)

Reanalysis started

3

2021.03.09

VCTERL (Vertebral, cardiac, tracheoesophageal, renal and limb defects) listed on OMIM
4

2021.03.15

Reanalysis Report of Patient A released: Positive on VCTERL (6 days after)

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. About 1.8% of all testing results were confirmed positive through the reanalysis pipeline.