Continuous diagnosis by reanalysis
Not all patients receive diagnosis initially
Currently, 25~57.5% of rare disease patients receive diagnoses with WES based tests (Wright CF et al, 2018, Monies D et al, 2019 , Trujillano D et al, 2017 , Stark Z et al, 2016). More than half of the rare disease patients fail to get diagnosed with genetic testing.
Reanalysis increases diagnostic rate
About 10% of patients who fail to get diagnosed at the initial trial receive a diagnosis with regular reanalysis (Machini K et al, 2019, Costain G et al, 2018). This is why we conduct regular reanalysis to maximize the diagnostic rate.
Free reanalysis until diagnosed
EVIDENCE, our fully automated interpretation system,
makes monthly reanalysis possible. It reduces the
time and cost to interpret a patient’s genome on
newly discovered rare diseases to a fraction.
DNAGO provides a free reanalysis service for patients
who fail to receive diagnosis at the initial trial until