A paper on the use of an automated, streamlined daily update & reanalysis system at 3billion, in effect since April 2021, has been published in Molecular Medicine. The study presents the results of daily reanalysis conducted for 1,065 patients from 10 medical institutions in South Korea.
Whole exome sequencing was performed on 1,065 unselected patients among 1,056 unrelated families. Variant analysis was performed using the EVIDENCE pipeline, 3billion’s proprietary automated variant analysis software, and reanalysis using an automated daily reanalysis pipeline. Through reanalysis, the diagnostic yield, which was 38% in the initial analysis, increased to 41%. Through this study, the importance of reanalysis is emphasized, and the utility of the automatic reanalysis pipeline that 3billion implemented is discussed.
How do we go beyond the limits of WES diagnostic yield?
The diagnostic yield using WES for patients with known neurodevelopmental delay(NDD)/intellectual disability(ID) ranges from 30% to 50%. In previous studies, it was found that routine retrospective reanalysis can improve diagnostic yield by 10% to 15%.
Accordingly, 3billion built a daily reanalysis automated pipeline and reanalyzed inconclusive and negative results cases on a daily basis. This resulted in the correction of clinical management for 16 of the 402 patients diagnosed through this study.
Reanalysis, an effective method for improving diagnosis of rare disease
As the term “rare” disease implies, there are many diseases without enough information to be defined and diagnosed yet. Even at this moment, evidence is accumulating through various studies.
Currently, 3billion is the only company that reanalyzes WES data on a daily basis. Through this reanalysis pipeline, we focus on diagnosing patients with rare diseases as quickly and accurately as possible by fully incorporating the latest molecular genetic information.
Some ask why we do it. They state that the cost is too high, because the size of the genetic data of thousands of patients is not small to simply run reanalysis everyday, especially given that patients are not always newly diagnosed.
However, we believe it's well worth it. We want to help patients find the answer to their disease and move on to the next stage.
More details can be found in the main text of the paper.