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Comment by Real_S | Hacker News Reader

Recruiting people for drug trials seems unlikely to be a goal, but I could be surprised. I suspect they are planning to use sequence data to find drug targets. Sequence data has more potential than GWAS ever had, e.g. finding rare mutations.

"Blinded to patient identity" is true, but it can be relatively easy to re-identify these individuals using this data. So this data has your identity intertwined with potentially very private information. Some people intuitively desire to be as cautious as possible with their genetic information, and there is good reason for caution. Worst case it somehow ends up on the black market. You can't change your DNA, so if it gets out, there is no turning back.

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Recruiting patients for clinical studies can actually be quite hard, especially if you are looking only for patients with a specific mutation. Many companies now focus on studying genetically defined patient populations bc the signal to noise ratio is better. There is a massive shortage of patients for cancer studies now

As mentioned, 23andme uses genotyping not sequencing so it's unclear whether there data is that valuable for target discovery. and while it's not unprecedented for pharma to spend $300M for a target id deal, it is quite rare

23andme uses genotypimg and not sequencing, so you won’t be getting those rare mutations. That’s how they can keep the price so low.

I think your point still stands though, your genotype is still identifying information and should be safeguarded.

https://customercare.23andme.com/hc/en-us/articles/202904600...

There is no reason to think that they are not sequencing some of these samples in their research programs, and/or waiting for sequencing to become cheap enough to do so. Considering that there are numerous large GWAS studies around, why would pharma pay big money for access to this data if it were limited to GWAS? They might currently only sequence specific genes and/or specific individuals, guided by the GWAS data, but as sequencing gets cheaper there is nothing stopping them from full genome sequencing in their research.

Their prices are low for the "consumer" (product). The $300 million GSK deal is an example of how they can make real money.

When you sign up they ask you if they can store your DNA sample for up to 10 years. I assume this is so they can sequence it once it becomes cheaper.

> You can't change your DNA

yet

Supposedly. That we know of.

There's probably already some mad biohacker out there doing this as we speak and being called a loon by everyone who knows them.

> Sequence data has more potential than GWAS ever had, e.g. finding rare mutations.

Sequencing studies really don't show this.

Sequencing finds rare variants. GWAS finds loci with common variants. We know that for many common diseases, the population-level variability due to rare variants is small. If you want to find drug targets, there is plenty of reason to use both approaches.

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