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I've never done one of these genetic tests. Partly because it's scary to me to learn what diseases I'm likely to get as I get older, but also I just don't want

I've never done one of these genetic tests. Partly because it's scary to me to learn what diseases I'm likely to get as I get older, but also I just don't want that information in some else's database. We're very fearful of what Google and Facebook already knows about us now imagine they buy 23andMe and then join all their data about you with your DNA (which you've already willingly given up and allowed them to "profile". Google/Facebook user behavioral data + their users' DNA is about as scary invasive as it gets.

seibelj 9y ago
I wanted to know. It turns out I’m a carrier for cystic fibrosis, and my wife is not. If we were both carriers, we might have chosen to adopt children rather than have our own. So there is more to learn than just your future health. It’s also interesting seeing who my distant cousins are.
- corvallis 9y ago
  Pre-conception genetic testing is also available through normal healthcare avenues. It even comes with highly trained genetic counselors.
  - afsina 9y ago
    Probably very expensive.
    - brokensegue 9y ago
      probably covered through insurance
  - fragmede 9y ago
    > normal healthcare avenues It's worth noting that's not a selling point for many Americans. From incomprehensible billing and having to fight for coverage with health insurance, to dealing with antiquated offices (fax? really?), never mind the hassle of scheduling an appointment over the phone, going in to an office, and seeing a doctor who's rushing you out the door, "normal healthcare avenues" is cumbersome, and persists only due to lack of real competition in the marketplace. (The doctor, of which there are really truly awesome ones, is a cog in a far larger machine.) Still, the technology that allows us to screen a fetus at 12-weeks of pregnancy is quite impressive.
alex- 9y ago
It really is scary. They claim to anonymise the data, but to me it feels like removing your name and address from your DNA is like removing the make and model from a car schematic (where only one model was produced).
cromwellian 9y ago
On the other side of this, if massive databases of DNA and medical histories were accumulated, it's possible a great amount of human suffering and harm could be solved by aggressively mining this data to find out the connection between DNA and various diseases. I mean, besides being denied health insurance because of what someone might find in your DNA, why are you so afraid of something even having your DNA, because it might result in GATACA-like society? If so, we need strong legal protections against discrimination by DNA, but we can't throw out the baby with the bathwater. There's too much good that can be done to human wealth and welfare by eradicating disease and paranoia about theoretical danger should be challenged into laws to protect against discrimination. What do you think Facebook + DNA is going to do to harm you? Try to sell you a pharmaceutical or medical treatment? A cure for balding or erectile disfunction?
- benwilber0 9y ago
  People already post their 23andMe "results" on their dating profiles to say "I'm clean and healthy with good genetics!" The GATTACA society is rapidly becoming reality, just not institutionalized yet.
  - Ultimatt 9y ago
    Great. Maybe we will have less cystic fibrosis in the world. Not sure many people would argue they would be keen for their children to inherit that. There is a big difference between knowing you naturally are a carrier of a disease, and acting on that info, and then manipulating radically and arbitrarily the genetics of humanity. Regulation internationally is fairly clear, sifting out incredibly debilitating disease is going to be ok. Making your children more aryan looking, not so much. Now if only they posted a recent STI panel result too.
    - cbr 9y ago
      "Making your children more aryan looking, not so much" People strongly consider race in dating; we're kind of already there: https://blog.okcupid.com/index.php/race-attraction-2009-2014/ https://blog.okcupid.com/index.php/race-attraction-2009-2014...
bpevsner 9y ago
I wonder... GDPR probably covers this, right? So EU citizens probably have the right to have this data erased adter they learn what they need to?
merralea 9y ago
I’ve thought since consumer-level genetic testing first came out that there would be a place for a company to do it fully, truly anonymized using tor+crypto or something similar. It’s a bit surprising to me that it doesn’t exist yet; if I had the right background I’d probably go for it myself. There has to be a decent number of people that want to know, but don’t want anyone else to.
- benwilber0 9y ago
  > anonymized using tor+crypto I'm sure sure how that would work? How do you send a bio sample over the internet?
  - merralea 9y ago
    It would have to be something to the effect of getting the kit in a store and sending it in with a public key and no return address. They check that the associated account has paid, run whatever analysis and add the encrypted results to the account. The major bottleneck is probably getting the kits to the user; workarounds I can think of that don’t involve having your own kit available in stores would be either having a list of generic kits that would work or piggybacking off of 23andme’s distribution and accepting their kits (though I’m sure they wouldn’t be happy about that, to say the least).
    - Ultimatt 9y ago
      I mean this is already how almost all sequencing labs around the world work...
  - lozaning 9y ago
    Im imagining some kind of system where: The Alice company would either put DNA collection kits for sale on Amazon or tell people where they can buy a kit that meets the required criteria for collection. Then people pay the company in bitcoin (how to separate your bitcoins from your identity is left as a exercise for the user) and once they've paid they're provided an input field to enter a public key they've generated. The website would then generate a barcode you'd use to label your sample before mailing it in, or it could be a QR code of your public key. When a sample arrives at the lab they scan the barcode, and check to ensure that there is a public key tied to that bar code and that they've paid. They then run the sample and publish the results online, accessible to all, but also encrypted with that users public key. The user then checks the website every day for week after they've sent their sample in. Once they find their results by searching all results for the one labeled with their public key they download the results and then use their private key to unencrypt them.
Kelbit 9y ago
Aren't these PCR tests against known sequences of base pairs? It's not like they're sequencing your DNA or anything, they are just testing for the presence of selected markers. I don't think the data they have is meaningful outside the context of the tests.
- epistasis 9y ago
  It's a SNP chip, not PCR, but similar level of information at ~100k sites. Definitely not sequencing, though.
gnarbarian 9y ago
I did 23andme back before they had to stop doing some of the medical stuff. They discovered a serious and potentially harmful mutation that I had. I showed my GP who then confirmed it with other tests. It's something that could kill me, and knowing about it allows me to avoid situations where it could. The ancestry stuff is really really cool too. I'm 2.7% neanderthal! My whole family discovered aspects of our history that we didn't expect.
- shdh 9y ago
  Check out https://promethease.com/ https://promethease.com/ if you want more information.
mc32 9y ago
Of special concern would be entities like FB and LinkedIn having thins kind of data _and_ availing it to private health insurance as well as potential future private sector employers.
- Ultimatt 9y ago
  The insurance argument for genetics is incredibly over blown. Very few people have some large quantifiable risk with high certainty found from their genetics. Something like a smart watch mobile phone fitness app that records you are clinically obese and dont move around is far more of a problem than your genetics will ever be. Just because you have the genetic potential for higher or lower risk is nothing compared to measuring the actual state of your person right this second and over your lifetime. I work for a company that records and uses both simultaneously. Trust me when I say your smart watch with a heart rate monitor is probably about 1000x the existential threat to your insurance premium. The genetics is helpful for parameterising models and adjusting you from say an "average" human. But there is nothing like actually measuring daily who you are. The power of that data is actually incredible.
nickysielicki 9y ago
I feel I'm in an interesting scenario in that both of my parents have done 23andme, but I have all the concerns you have. You're not just making this choice for yourself, you're making it (to some degree) for everyone you are or will ever be related to. That has profound implications that people aren't entirely considering when they spend the $50 (or whatever) and spit in a cup.
- deleted 9y ago
  [deleted]
lefstathiou 9y ago
I did 23andMe many years ago around when it first came out (and I therefore have access to certain results others can’t get since this was pre-FDA settlement). At the time, I ignored the fact that it said I was 4x more likely to develop colon cancer (I was in early 20s). My sister was diagnosed with colon cancer 3 years ago. When you are a woman diagnosed in your early 30s, apparently it is due to genetics. She discovered it by going to three different doctors after insisting she wasn’t feeling well and that it felt “deeply internal”. The doctor who suggested a colonoscopy did so because he had an internship for a year at a cancer clinic in Boston. The others thought it was in her head. Well they found a malicious tumor and the prognosis from the nations leading cancer clinic was to remove her colon, her uterus and ovaries and large intestines (in their entirety). You can imagine this is a lot to ask of anyone. We asked for data that supported the conclusion that if we don’t remove all of these parts the cancer would spread to her ovaries and kill her and there was literally none to be had. It was 100% based on the doctors personal experience (again we were at one of the top clinics in the world for this). There is something structurally off with the modern medical system. I believe it relies too heavily on anecdotal experience and memory. I don’t know about you but I can’t remember what I ate yesterday. I think services like 23andMe are on to something, if only as a data point to empower patients to self advocate. We did nothing with the data but he moment I got the phone call I couldn’t help but wonder if we could have found this earlier.
- mr_overalls 9y ago
  > We asked for data that supported the conclusion. . . and there was literally none to be had. It was 100% based on the doctor's personal experience On a semi-related note, I've had a few conversations with physicians about the utility of AI in medicine, and all of them seem to be adamantly against any technology that displaces the individual doctor as dictator/hero of the medical hierarchy. In one memorable exchange with a surgeon (and friend), I pointed out that doctors, like most other educated humans, are pretty terrible at applying statistics to any kind of complex decision-making - and I brought up your observation that doctors are limited to the knowledge/anecdotes/heuristics that fit in their own heads. Why not employ some kind of machine intelligence to at least aid in diagnosis, double-check treatment plans, prevent medical errors, etc? My friend abruptly changed the subject and began waxing poetic about how his decades of experience allowed him to glean enormous amounts of information from the mere tactile sensations of a loop of bowel in his hand during surgery. How would a machine replicate that, he asked. The conversation wasn't even about robotics. I don't have a lot of faith that doctors - outside of a few pioneers - will begin using medical expert systems until they are forced to.

seibelj 9y ago

I wanted to know. It turns out I’m a carrier for cystic fibrosis, and my wife is not. If we were both carriers, we might have chosen to adopt children rather than have our own. So there is more to learn than just your future health. It’s also interesting seeing who my distant cousins are.

corvallis 9y ago
Pre-conception genetic testing is also available through normal healthcare avenues. It even comes with highly trained genetic counselors.
- afsina 9y ago
  Probably very expensive.
  - brokensegue 9y ago
    probably covered through insurance
- fragmede 9y ago
  > normal healthcare avenues It's worth noting that's not a selling point for many Americans. From incomprehensible billing and having to fight for coverage with health insurance, to dealing with antiquated offices (fax? really?), never mind the hassle of scheduling an appointment over the phone, going in to an office, and seeing a doctor who's rushing you out the door, "normal healthcare avenues" is cumbersome, and persists only due to lack of real competition in the marketplace. (The doctor, of which there are really truly awesome ones, is a cog in a far larger machine.) Still, the technology that allows us to screen a fetus at 12-weeks of pregnancy is quite impressive.

alex- 9y ago

It really is scary. They claim to anonymise the data, but to me it feels like removing your name and address from your DNA is like removing the make and model from a car schematic (where only one model was produced).

cromwellian 9y ago

On the other side of this, if massive databases of DNA and medical histories were accumulated, it's possible a great amount of human suffering and harm could be solved by aggressively mining this data to find out the connection between DNA and various diseases. I mean, besides being denied health insurance because of what someone might find in your DNA, why are you so afraid of something even having your DNA, because it might result in GATACA-like society? If so, we need strong legal protections against discrimination by DNA, but we can't throw out the baby with the bathwater. There's too much good that can be done to human wealth and welfare by eradicating disease and paranoia about theoretical danger should be challenged into laws to protect against discrimination. What do you think Facebook + DNA is going to do to harm you? Try to sell you a pharmaceutical or medical treatment? A cure for balding or erectile disfunction?

benwilber0 9y ago
People already post their 23andMe "results" on their dating profiles to say "I'm clean and healthy with good genetics!" The GATTACA society is rapidly becoming reality, just not institutionalized yet.
- Ultimatt 9y ago
  Great. Maybe we will have less cystic fibrosis in the world. Not sure many people would argue they would be keen for their children to inherit that. There is a big difference between knowing you naturally are a carrier of a disease, and acting on that info, and then manipulating radically and arbitrarily the genetics of humanity. Regulation internationally is fairly clear, sifting out incredibly debilitating disease is going to be ok. Making your children more aryan looking, not so much. Now if only they posted a recent STI panel result too.
  - cbr 9y ago
    "Making your children more aryan looking, not so much" People strongly consider race in dating; we're kind of already there: https://blog.okcupid.com/index.php/race-attraction-2009-2014/ https://blog.okcupid.com/index.php/race-attraction-2009-2014...

bpevsner 9y ago

I wonder... GDPR probably covers this, right? So EU citizens probably have the right to have this data erased adter they learn what they need to?

merralea 9y ago

I’ve thought since consumer-level genetic testing first came out that there would be a place for a company to do it fully, truly anonymized using tor+crypto or something similar. It’s a bit surprising to me that it doesn’t exist yet; if I had the right background I’d probably go for it myself. There has to be a decent number of people that want to know, but don’t want anyone else to.

benwilber0 9y ago
> anonymized using tor+crypto I'm sure sure how that would work? How do you send a bio sample over the internet?
- merralea 9y ago
  It would have to be something to the effect of getting the kit in a store and sending it in with a public key and no return address. They check that the associated account has paid, run whatever analysis and add the encrypted results to the account. The major bottleneck is probably getting the kits to the user; workarounds I can think of that don’t involve having your own kit available in stores would be either having a list of generic kits that would work or piggybacking off of 23andme’s distribution and accepting their kits (though I’m sure they wouldn’t be happy about that, to say the least).
  - Ultimatt 9y ago
    I mean this is already how almost all sequencing labs around the world work...
- lozaning 9y ago
  Im imagining some kind of system where: The Alice company would either put DNA collection kits for sale on Amazon or tell people where they can buy a kit that meets the required criteria for collection. Then people pay the company in bitcoin (how to separate your bitcoins from your identity is left as a exercise for the user) and once they've paid they're provided an input field to enter a public key they've generated. The website would then generate a barcode you'd use to label your sample before mailing it in, or it could be a QR code of your public key. When a sample arrives at the lab they scan the barcode, and check to ensure that there is a public key tied to that bar code and that they've paid. They then run the sample and publish the results online, accessible to all, but also encrypted with that users public key. The user then checks the website every day for week after they've sent their sample in. Once they find their results by searching all results for the one labeled with their public key they download the results and then use their private key to unencrypt them.

Kelbit 9y ago

Aren't these PCR tests against known sequences of base pairs? It's not like they're sequencing your DNA or anything, they are just testing for the presence of selected markers. I don't think the data they have is meaningful outside the context of the tests.

epistasis 9y ago
It's a SNP chip, not PCR, but similar level of information at ~100k sites. Definitely not sequencing, though.

gnarbarian 9y ago

I did 23andme back before they had to stop doing some of the medical stuff. They discovered a serious and potentially harmful mutation that I had. I showed my GP who then confirmed it with other tests. It's something that could kill me, and knowing about it allows me to avoid situations where it could. The ancestry stuff is really really cool too. I'm 2.7% neanderthal! My whole family discovered aspects of our history that we didn't expect.

shdh 9y ago
Check out https://promethease.com/ https://promethease.com/ if you want more information.

mc32 9y ago

Of special concern would be entities like FB and LinkedIn having thins kind of data _and_ availing it to private health insurance as well as potential future private sector employers.

Ultimatt 9y ago
The insurance argument for genetics is incredibly over blown. Very few people have some large quantifiable risk with high certainty found from their genetics. Something like a smart watch mobile phone fitness app that records you are clinically obese and dont move around is far more of a problem than your genetics will ever be. Just because you have the genetic potential for higher or lower risk is nothing compared to measuring the actual state of your person right this second and over your lifetime. I work for a company that records and uses both simultaneously. Trust me when I say your smart watch with a heart rate monitor is probably about 1000x the existential threat to your insurance premium. The genetics is helpful for parameterising models and adjusting you from say an "average" human. But there is nothing like actually measuring daily who you are. The power of that data is actually incredible.

nickysielicki 9y ago

I feel I'm in an interesting scenario in that both of my parents have done 23andme, but I have all the concerns you have. You're not just making this choice for yourself, you're making it (to some degree) for everyone you are or will ever be related to. That has profound implications that people aren't entirely considering when they spend the $50 (or whatever) and spit in a cup.

deleted 9y ago
[deleted]

lefstathiou 9y ago

I did 23andMe many years ago around when it first came out (and I therefore have access to certain results others can’t get since this was pre-FDA settlement). At the time, I ignored the fact that it said I was 4x more likely to develop colon cancer (I was in early 20s). My sister was diagnosed with colon cancer 3 years ago. When you are a woman diagnosed in your early 30s, apparently it is due to genetics. She discovered it by going to three different doctors after insisting she wasn’t feeling well and that it felt “deeply internal”. The doctor who suggested a colonoscopy did so because he had an internship for a year at a cancer clinic in Boston. The others thought it was in her head. Well they found a malicious tumor and the prognosis from the nations leading cancer clinic was to remove her colon, her uterus and ovaries and large intestines (in their entirety). You can imagine this is a lot to ask of anyone. We asked for data that supported the conclusion that if we don’t remove all of these parts the cancer would spread to her ovaries and kill her and there was literally none to be had. It was 100% based on the doctors personal experience (again we were at one of the top clinics in the world for this). There is something structurally off with the modern medical system. I believe it relies too heavily on anecdotal experience and memory. I don’t know about you but I can’t remember what I ate yesterday. I think services like 23andMe are on to something, if only as a data point to empower patients to self advocate. We did nothing with the data but he moment I got the phone call I couldn’t help but wonder if we could have found this earlier.

mr_overalls 9y ago
> We asked for data that supported the conclusion. . . and there was literally none to be had. It was 100% based on the doctor's personal experience On a semi-related note, I've had a few conversations with physicians about the utility of AI in medicine, and all of them seem to be adamantly against any technology that displaces the individual doctor as dictator/hero of the medical hierarchy. In one memorable exchange with a surgeon (and friend), I pointed out that doctors, like most other educated humans, are pretty terrible at applying statistics to any kind of complex decision-making - and I brought up your observation that doctors are limited to the knowledge/anecdotes/heuristics that fit in their own heads. Why not employ some kind of machine intelligence to at least aid in diagnosis, double-check treatment plans, prevent medical errors, etc? My friend abruptly changed the subject and began waxing poetic about how his decades of experience allowed him to glean enormous amounts of information from the mere tactile sensations of a loop of bowel in his hand during surgery. How would a machine replicate that, he asked. The conversation wasn't even about robotics. I don't have a lot of faith that doctors - outside of a few pioneers - will begin using medical expert systems until they are forced to.