Many rare disease patients with different genetic causes share similar symptoms. Genetic test on narrow disease spectrum leads to a low diagnostic rate on rare disease patients.
To save time and cost for diagnosis, genetic test covering all possible diseases will be beneficial for the patients.
3billion's rare genetic test covers whole 20,000 genes for more than 7,000 known rare genetic diseases.
3billion provides a reanalysis service without additional cost until the patients receive diagnoses.
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 diasnosed patients are diagnosed from the newly identified disease-gene associations (Machini K et al., 2019, Costain G et al., 2018).
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).
3billion has been collaborating with 98 medical institutions across 32 countries to diagnose rare disease patients. In the initial collaborative study, possible causative variants were found in 65.1% of patients, and 42.7% of patients were finally diagnosed with follow-up assessment by the physicians (Seo GH et al., 2020).
More than 10,000 rare disease patients have already been diagnosed with 3billion.
Our report contains testing results, variant interpretation and incidental finding (Kalia et al. 2016).