Hate to break it to everyone breathless over yet another press clipping, but this startup is dead in the water. Another $45M down the tubes.
If they get some limited access to data, develop the machine learning software better than anyone, whats stopping one of the big pharma companies from shelling out $1B to acquire the company? Getting access to a tech team + IP could be very valuable. Pharma companies aren't known for their software teams either and this seems to be the core of their business offering here. Not the tests that everyone's already doing... I mean I just reread the article and they aren't claiming this is their core business proposition at all (as the OP seems to imply).
Even Illumina makes $2B in revenue currently. There's lots of money in the pharma industry and they always converge on a few big firms. They don't need to be original to provide real technical value here.
Unlike the pharma industry where you shield your IP with lawyers for 10 yrs, being first means nothing in the software world. It's about who can do it best.
The founders comments here also clarifies that they aren't going after new interesting areas because they are focusing on commercializing something that works right now and advancing that data science aspect of it, instead of making a future play on some original R&D.