Warm greetings from 3billion. Let us begin to explore!
3billion is a service provider of genetic testing across all rare genetic diseases for physicians to diagnose rare disease patients.
Many rare disease patients with different genetic causes share similar symptoms. Genetic test on narrow disease spectrum leads to a low diagnostic rate in rare disease patients.
To save time and cost for diagnosis, genetic test covering all possible diseases will be beneficial for the patients and physicians as well.
3billion's rare genetic test covers the whole 20,000 genes for more than 7,000 known rare genetic diseases.
Over 100,000 genetic variants found on 20,000 genes need to be interpreted for each patient. The interpretation takes 6.5~8.5 hours per each patient (Machini K et al, 2019) by trained medical geneticists. The complexity of variant interpretation makes genetic testing expensive and inconsistent.
3billion devised a variant interpretation system, EVIDENCE, to automate this process. With the help of EVIDENCE, the variant interpretation takes less than 5 minutes per patient on average.
The EVIDENCE produces consistent variant interpretation according to the current medical guideline, ACMG-AMP interpretation guideline. 3billion's medical geneticist gives the diagnosis and confirms reported variants by Sanger validation (Richards S et al, 2015).
Not only this but also 3billion provides a reanalysis service without additional cost until the patients receive diagnoses.
3billion reanalyzes the undiagnosed patients’ genomic data every day. The analysis reflects the latest updates on diseases and genetic variants. If any diagnosed case is identified through reanalysis, we provide a report without any additional charge.
About 10% of undiagnosed patients can receive diagnoses by reanalyses. An average of 20 rare disease-gene associations are unraveled each month. 75% of the newly diagnosed patients are diagnosed from the newly identified disease-gene associations (Machini K et al, 2019, Costain G et al, 2018).
While the international pandemic caused to stop the research related to rare diseases or made researchers shift to other research fields, we, 3billion, did not leave what we have to do.
Our laboratory has been running as usual and the results have been delivered within the timeline.
We will strive for the excellence of our technology and service experience as we always do.