5 ms·

I'm not exactly an expert in this field, but I work in big pharma, and I've seen the presentation 23andMe gives to drug companies. Basically, there are two ways

I'm not exactly an expert in this field, but I work in big pharma, and I've seen the presentation 23andMe gives to drug companies. Basically, there are two ways GSK can use your data stored at 23andMe, and both require explicit opt-in. First is that they can basically just give access to huge databases. You might be surprised at how inefficient this will probably be for target hunting. There are already lots of GWAS studies that don't result in a single viable drug target. The other way, and where I suspect the bulk of the $300M/4yrs is going, is in recruiting patients for clinical trials. GSK can tell 23andMe that they need 150 patients living near metropolitan centers who have indicated they suffer from X disease, and don't have Y mutation. This could drastically reduce the cost of recruiting for Phase 2 trials (though it may skew the patient populations in ways we haven't really had to deal with before). <edit> If I remember correctly, 23andMe contacts these potential patients to ask if they're interested in the GSK trial, then refers them to contact the GSK clinical trial site. They don't just give your phone number to GSK </edit> I guess I'm not really sure what the panic is about. First, every step is opt-in. Second, the data provided en masse is blinded to patient identity and industry standard is to disincentivize unblinding the data. Am I too close to and brainwashed by the industry to see what's wrong here?

Real_S 8y ago
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.
- iso1337 8y ago
  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-What-is-the-difference-between-genotyping-and-sequencing- https://customercare.23andme.com/hc/en-us/articles/202904600...
  - Real_S 8y ago
    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.
    - steve_musk 8y ago
      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.
- dwighttk 8y ago
  > You can't change your DNA yet
  - DoreenMichele 8y ago
    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.
- aaavl2821 8y ago
  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
- carbocation 8y ago
  > 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.
lakeeffect 8y ago
The article says it's opt-out not opt-in, and purpose is to find drug targets and clinical trail participants.
prepend 8y ago
My concern is not only privacy but equity. Commercialization of my data without consent or compensation is my fear. Nice that it’s opt-in now. I hope it stays that way or there’s not a massive breach.
- SlowRobotAhead 8y ago
  >Commercialization of my data without consent or compensation is my fear. I agree sort of, but how interesting is it that many people seem to really care when it’s their immutable genetic information to 23&Me - but when it’s their habitual and social information to Google or Facebook they seem care a lot less.
  - prepend 8y ago
    I care about Google and Facebook as well.
- leowoo91 8y ago
  Breaches are indeed can be considered as the new 'opt-in without consent'. I think people should have right to delete their data before it happens. 23andMe seems to have a clear state about it already: "If at any time you are no longer interested in participating in our Services, you may delete your 23andMe account and personal data, directly within your Account Settings." source: https://customercare.23andme.com/hc/en-us/articles/212170688-Requesting-account-closure https://customercare.23andme.com/hc/en-us/articles/212170688...
- ehsankia 8y ago
  The compensation is subsidized genetic testing. Without these deals, I'm sure the service would cost a lot more. I agree that being opt-in is important here, at the very least because people who signed on early did not agree to this. In the long term, if they changed it, I'm sure it'd require a new terms, and that older users would be grandfathered into the opt-out.
- ryanmercer 8y ago
  >Commercialization of my data without consent or compensation is my fear. You should have assumed when you spit in the tube that you waived all rights to protecting your genetic data. I'm not saying they should be allowed to use it however, including selling, but I'm saying when you spit in a tube and send your DNA to a company... you should kinda assume the worst.
dannykwells 8y ago
This comment is not correct as to what 23andMe is doing with the data. The goal is to identify targets for new drugs, and it is known that drugs based on specific genes or mutations often have the best chance of success - look up, for example PCSK9 inhibitors. 23andMe, along with having genetic information, have very, very detailed phenotypic information on the people they sequence, which they collect in the form of surveys. This in turn lets them do GWAS-like analyses better than anyone else on earth. These GWAS hits can in turn go through a pipeline to find those genes which might confer protection, or susceptibility, to a particular disease. Then, it's up to GSK to make a molecule to mimic or inhibit that effect. What should be clear here is that 23andMe is NOT giving GSK access to their data. They are giving them leads. Source: work in research R&D in biopharma (with a particular interest in genetics)
- cassowary37 8y ago
  Sorry, the blanket dismissal is not entirely correct. Companies like 23andme are indeed trying to repurpose their data to efficiently enroll participants in trials, as the parent post suggests. While it's not the focus of the GSK partnership as publicly reported, it is absolutely part of the strategy in this market, and arguably more likely to succeed in the long run. As far as target discovery: yes, there are examples of success with GWAS data (though probably more with rare variants identified in sequencing), but 23andme phenotypic data is rather craptastic vs traditional studies or biobanks. No doubt they'll find things, but you're overstating the power of their data. Source: work in drug discovery in academia; I've been pitched by companies like this and worked with a few.
  - stanfordkid 8y ago
    Agreed re: target discovery. Most of the 23andMe data is not much better than what is already publicly available to researchers via initiatives like the UK Biobank. 23andMe uses the Illumina Global Screening array which has significantly worse output (in terms of number of SNPs) than the 500k patients genotyped in the UK Biobank. Furthermore these genotyping based assays make it impossible to detect rare variants that have never been seen before and may be protective. The data being generated by Helix is probably much better for target discovery, but still not competitive with private datasets constructed by companies like Regeneron.

Real_S 8y ago

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.

iso1337 8y ago
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-What-is-the-difference-between-genotyping-and-sequencing- https://customercare.23andme.com/hc/en-us/articles/202904600...
- Real_S 8y ago
  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.
  - steve_musk 8y ago
    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.
dwighttk 8y ago
> You can't change your DNA yet
- DoreenMichele 8y ago
  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.
aaavl2821 8y ago
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
carbocation 8y ago
> 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.

lakeeffect 8y ago

The article says it's opt-out not opt-in, and purpose is to find drug targets and clinical trail participants.

prepend 8y ago

My concern is not only privacy but equity. Commercialization of my data without consent or compensation is my fear. Nice that it’s opt-in now. I hope it stays that way or there’s not a massive breach.

SlowRobotAhead 8y ago
>Commercialization of my data without consent or compensation is my fear. I agree sort of, but how interesting is it that many people seem to really care when it’s their immutable genetic information to 23&Me - but when it’s their habitual and social information to Google or Facebook they seem care a lot less.
- prepend 8y ago
  I care about Google and Facebook as well.
leowoo91 8y ago
Breaches are indeed can be considered as the new 'opt-in without consent'. I think people should have right to delete their data before it happens. 23andMe seems to have a clear state about it already: "If at any time you are no longer interested in participating in our Services, you may delete your 23andMe account and personal data, directly within your Account Settings." source: https://customercare.23andme.com/hc/en-us/articles/212170688-Requesting-account-closure https://customercare.23andme.com/hc/en-us/articles/212170688...
ehsankia 8y ago
The compensation is subsidized genetic testing. Without these deals, I'm sure the service would cost a lot more. I agree that being opt-in is important here, at the very least because people who signed on early did not agree to this. In the long term, if they changed it, I'm sure it'd require a new terms, and that older users would be grandfathered into the opt-out.
ryanmercer 8y ago
>Commercialization of my data without consent or compensation is my fear. You should have assumed when you spit in the tube that you waived all rights to protecting your genetic data. I'm not saying they should be allowed to use it however, including selling, but I'm saying when you spit in a tube and send your DNA to a company... you should kinda assume the worst.

dannykwells 8y ago

This comment is not correct as to what 23andMe is doing with the data. The goal is to identify targets for new drugs, and it is known that drugs based on specific genes or mutations often have the best chance of success - look up, for example PCSK9 inhibitors. 23andMe, along with having genetic information, have very, very detailed phenotypic information on the people they sequence, which they collect in the form of surveys. This in turn lets them do GWAS-like analyses better than anyone else on earth. These GWAS hits can in turn go through a pipeline to find those genes which might confer protection, or susceptibility, to a particular disease. Then, it's up to GSK to make a molecule to mimic or inhibit that effect. What should be clear here is that 23andMe is NOT giving GSK access to their data. They are giving them leads. Source: work in research R&D in biopharma (with a particular interest in genetics)

cassowary37 8y ago
Sorry, the blanket dismissal is not entirely correct. Companies like 23andme are indeed trying to repurpose their data to efficiently enroll participants in trials, as the parent post suggests. While it's not the focus of the GSK partnership as publicly reported, it is absolutely part of the strategy in this market, and arguably more likely to succeed in the long run. As far as target discovery: yes, there are examples of success with GWAS data (though probably more with rare variants identified in sequencing), but 23andme phenotypic data is rather craptastic vs traditional studies or biobanks. No doubt they'll find things, but you're overstating the power of their data. Source: work in drug discovery in academia; I've been pitched by companies like this and worked with a few.
- stanfordkid 8y ago
  Agreed re: target discovery. Most of the 23andMe data is not much better than what is already publicly available to researchers via initiatives like the UK Biobank. 23andMe uses the Illumina Global Screening array which has significantly worse output (in terms of number of SNPs) than the 500k patients genotyped in the UK Biobank. Furthermore these genotyping based assays make it impossible to detect rare variants that have never been seen before and may be protective. The data being generated by Helix is probably much better for target discovery, but still not competitive with private datasets constructed by companies like Regeneron.