Ask HN: Direct-to-consumer genome sequencing | Hacker News Reader

Ask HN: Direct-to-consumer genome sequencing

2 pointsrfc5 comments

Hi HN,

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.

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.

The thread from yesterday sparked an idea: what if we offered targeted genome sequencing direct to consumers?

The value props:

- We provide targeted gene sequencing on certain focus areas (cancer, inherited diseases, etc.) targeting 100's of genes at a time

- We do true genome sequencing instead of genotyping. So instead of just going for certain SNPs, we do the full gene

- We provide deep coverage (eg. 200x) so that you get quality data

- 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)

- Price point would likely be around $100-$150 per test with around 1 month turnaround time

- You would get the raw data but no analysis

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.

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.

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.

That's a good point and appreciate the critical feedback. This is the debate we've been having is that we don't want to get close to the "diagnostic" or "insights" world due to regulations.

Part of us believes that there are enough people who just want the data with some suggestions on tools to explore the data for their own curiosity. Almost like a hobby (similar to what genealogy use to be). Perhaps this is false but need more proof points.

There is the option of a sort of marketplace/forum/app place that we explored. Effectively, you'd get your data and then have a handful of options that we'd offer up as next steps. Instead of keeping that all in house, we'd act more as a platform to bring together the right services and software so that people can explore at their own will.

I'd certainly buy your services!

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?

If you had been on the market last year, I'd already have asked you to do 2 genes!

It would likely be very similar to our existing service. We send a swab kit, you send back, we group it with other consumers, sequence, then send data back through some encrypted way.

We'd likely offer 3 kits out of the gate that are specific to certain areas of interest (cancer, inherited disease, etc.). Over time, we could expand this but I'd do this as just sort of a proof point.

In theory, we could create a custom targeted kit for any gene(s) but it's usually cost prohibitive since you generally order in batches of 24 samples.

The hardest part would be getting enough samples from different consumers to make the runs cost effective. We'd likely need at least 20-30 samples before we could run, so need to think through the logistics there.

I am less likely to need a specific gene you sell (cf your list: cancer, inherited disease -uh thanks but no thanks) vs a few genes of interest that may not interest other people. You may want to adjust the price and the service accordingly, for "one shots".

Actually, if you can start selling service soon, get in touch. There are 2 phenotype genes we'd still want sequenced this year.

We just want the raw sequence of the maternal and paternal alleles. No nonense, no counseling or whatever - just the full raw data.

It's the perfect opportunity to get your first customers and open minded guinea pigs :-)

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