Hi HN,<p>There was a thread yesterday[0] around the inaccuracy of DNA tests from likes Ancestry & 23andMe that was intriguing and I'm hoping to get opinions on the subject.<p>I'm a co-founder in a genome sequencing lab where we work only on research projects for clinicians, pharmas, etc. We currently don't do direct-to-consumer. However, we're big believers in having access to service and data that tell you more about YOU with no strings attached.<p>The thread from yesterday sparked an idea: what if we offered targeted genome sequencing direct to consumers?<p>The value props:<p>- We provide targeted gene sequencing on certain focus areas (cancer, inherited diseases, etc.) targeting 100's of genes at a time<p>- We do true genome sequencing instead of genotyping. So instead of just going for certain SNPs, we do the full gene<p>- We provide deep coverage (eg. 200x) so that you get quality data<p>- We destroy your data once you confirm you receive it and never resell it or use it in aggregates (with a way to validate & verify this to consumers)<p>- Price point would likely be around $100-$150 per test with around 1 month turnaround time<p>- You would get the raw data but no analysis<p>What I'm curious about is whether or not this would be something people would be interested in. In essence, we'd be giving you raw data for you to interpret on your own and do what you please with some light support/direction from us on how to visualize the data. Our theory is that folks are generally curious about themselves and would learn of ways to explore their true genetic data and develop communities to do so.<p>What do you think? Thanks for the feedback!
[0] https://news.ycombinator.com/item?id=18938750
The problem that seemed to be largely missed in the discussion yesterday, is that it isn't the lab work that is sloppy (granted, they aren't doing whole genome sequencing, but there is nothing to indicate that their actual lab work is shoddy--edit: particularly when part of their business model is selling their database to pharma). The ambiguity comes in from the analysis and the size of the reference samples and the extrapolation of what we can actually tell from that (a lot less than is commonly assumed). You're not solving the problem by avoiding that part of the equation altogether since that part is the problem. Raw data is largely useless to the vast majority of consumers.<p>Edit: There is also a reason why the sort of data that you are proposing to provide is usually accompanied by genetic counselling. You might want to consult a bioethicist about your proposal if you decide there is enough interest in the service.
I'd certainly buy your services!<p>How would it be in practice? I tell you which genes I want sequenced and pay, you send me the vial for a cheek swab, then a month later you mail me an encrypted file?<p>If you had been on the market last year, I'd already have asked you to do 2 genes!