“The more reference data, the more accurate the test,” said Kaganovich. “Right now there is a very limited amount of useful data out there. Whatever open data is out there, it is in inconsistent formats and quality, and not programmatically accessible. It takes a team of internal programmers to build the infrastructure to collect the data, parse it, normalize it, connect it, and serve it up to clinicians.”
As hospitals and public health organizations switch to using genomic data for testing, searching through genomic data can still take some time. Y Combinator-backed startup, One Codex, wants to help researchers, clinicians and public health officials, who have sequenced more than 100,000 genomes and created petabytes of data, to search this data.
“Many major medical institutions, including UCSF, have long had the science and the technology to generate genomic test results,” said Kristen McCaleb, PhD, program manager for the GMI who partnered with the Helen Diller Comprehensive Cancer Center on the project. “The problem we’ve had is a lack of IT infrastructure to return those results to the clinicians who order the tests in a clearly actionable, doctor-friendly format.