Despite sharing symptoms, many rare disease patients have different etiology. Coupled with an extremely narrow disease spectrum within genetic testing, this leads to low diagnostic rates.
3billion’s genetic testing process seeks to improve efficiency across the board. By covering 20,000+ genes, we can detect 7,000+ currently-known rare genetic diseases.
3billion provides full-cycle reanalysis until the patient is successfully diagnosed, at no additional cost.
~10% of undiagnosed patients receive diagnosis via reanalyses. With ~20 rare disease-gene associations discovered each month, 75% of newly-diagnosed patients end their diagnostic odyssey via these new associations. (Machini K et al., 2019, Costain G et al., 2018).
100,000+ genetic variants found across 20,000+ genes must be interpreted for each patient. This process takes medical geneticists anywhere from 6½ to 8½ hours, per patient (Machini K et al., 2019). Due to complexity of variant interpretation, genetic testing is both expensive and often inconsistent.
Here at 3billion, we’ve devised a solution—a variant interpretation system deemed EVIDENCE—to automate this process. By utilizing cutting-edge technology, variant interpretation with EVIDENCE takes an average of less than 5 minutes, per patient.
EVIDENCE produces consistent variant interpretation which aligns with current medical and ACMG-AMP interpretation guidelines.
3billion’s medical geneticist has gone on to confirm reported variants by Sanger validation (Richards S et al., 2015).
Since 2018, 3billion has collaborated with 120+ medical institutions and corporations around the world, spanning 40+ countries, all of us with the common goal of ending the diagnostic odyssey.
In initial collaborative studies, causative variants were found in 65.1% of patients, while 42.7% of patients were diagnosed during a follow-up assessment with their physician(s) (Seo GH et al., 2020).
Type your patient's symptoms to check his/her possible diseases.
Don't know where to begin? Check out the list below - the most common symptoms for rare disease patients.
Our reports contain in-depth information regarding testing results, variant interpretation, and secondary findings (Kalia et al. 2016).