Hacker News Reader

Comment by FL33TW00D | Hacker News Reader

Why isn't there a company that just "wraps" Illumina. Zero partners minus the Illumina machine. Seems obvious.

Well, the closest is probably familytreedna then. You pay for the test, get the data, and that's it, they don't try to upsell you on a subscription.

They do have a family matching database, but you can opt out of it I'm pretty sure. They do try to upsell you on frightfully expensive Y-DNA long read sequencing for niche genealogy use cases, but you can just ignore that...

what do you mean? i think you more or less described every personal genetics testing company as they start out. they use the illumina machine to do the testing and develop custom assays with said machine

"every company i've worked for that does personal testing eventually gives their data to someone: other companies, or law enforcement."

Why isn't there a privacy focused company that just doesn't do this.

as far as i know there just isn't demand for one's own data like this. people have kinda tried, there's some weird web3 offerings that allegedly do this so you can monetize your data but afaik nobody uses that.

i mentioned in an earlier comment i'd be happy to start this company if there were that kinda demand. it'd cost you around $1000 USD to get this done and get a hard drive mailed to you with raw data (fastq files).

EDIT: it probably would be cool if this kind of thing existed so consumers could shop their analysis around. it might actually open up some consumer bioinformatics startups

I agree with the low demand for more expensive personal WGS. I think you can mostly get what you want with ySeq: currently 400$ for 90 GigaBases WGS sequencing, with the data sent to you via SD card. You can request immediate data deletion. Only genealogical analysis is included, everything else is DIY.

Thanks for the tip on ySeq.

I think there is some sort of middle ground here. Although 99% of consumers don't care about privacy, it's an org risk as we saw with 23&Me. A consumer focused, privacy heavy but cloud based platform will emerge in the wake of 23&Me.

ySeq has a 5 month waiting list for WGS, any other suggestions?

what would you pay for this service? how quickly would you want the data? what format do you want the data in?

399 from YSeq seems fine for 30x coverage.

Gemini says a reasonable cost estimate from saliva to SNPs is $163.84 - $211.84 using Ultima $80 for sequencing (funny that sequencing is no longer the bottleneck on cost).

FASTQ is fine but I'd prefer BINSEQ: https://github.com/ArcInstitute/binseq. I'm writing my own pipeline from BINSEQ.

If you ever start that company, let me know (you can email any address at the domain listed in my profile, it's all an alias to my main address)

Reply on news.ycombinator.com