I'm annoyed at the presumption that I, as a customer, was not aware or on-board with what 23andMe is doing. I did. I'm happy to be part of this. I don't care that someone is making money because of it. I'm just glad that biomedical research to save lives is happening. Why is it a bad thing?
And as a side benefit, through this system I got to meet my second cousin and tell her what my mother remembers about her now-passed-on grandmother (that literally happened last night and I'm still excited about it).
I am a bit nervous about some of the 'we found the criminal by searching the company's DNA database' stuff. I think some regulation around that is needed. And perhaps 23andMe needs to make it more obvious to customers that they will do this research using the DNA.
But as an informed consumer, I was happy to become a customer and participant in this fascinating system.
What we haven't figured out, is how consent should work with the rest of your family, who share most of your DNA. Obviously your body is yours to give consent for, but you effectively dox your whole bloodline in doing so.
I don't think there are easy answers here, but it's a conversation we should be having.
The trouble I see with this is that you may have exposed your relatives to T&C's they didn't agree to. Perhaps some future situation where a sibling gets to pay higher insurance rates or similar.
Cool, I'm glad that brought you joy. I wish they gave both of us a check box at the bottom of my spit test to opt in and everyone's happy. But they know at least half of their population would've opted out...
Would you like to have your DNA being used to manufacture a virus that only kills you/your family, based off DNA structure some 23andMe customer bought from them? Right now 23andMe might be the "good guys" like what Google used to be, but for how long?
It's strange how Anne Wojcicki's company has done more for science than Theranos ever did yet most have never heard of her. Even when you exclude the scandal Elizabeth Holmes got herself into, she was more well known.
>It's strange how Anne Wojcicki's [...] yet most have never heard of her.
It's not strange if you consider that Elizabeth Holmes proactively pursued the media appearances circuit. E.g. talk shows, award ceremonies, etc. Other female CEOs do more actual work and don't have the time for those distractions.
Also, Forbes' calculation of Holmes being worth ~4 billion based on 50% ownership of Theranos drew more media attention. The public fascination with (so-called) "billionaires" feeds the self-reinforcing cycle of more interviews.
The press is lazy and incurious. They don't pursue stories, they reprint press releases. And the even sadder part is they believe the press releases and report accordingly.
The press assures us they'd be better if we gave them a bunch of money (even begging for government money), but the truth is that it has always been like this.
Anne Wojicicki was on prime time TV for a while (she had several appearances on Shark Tank). Although Elizabeth Holmes may be more famous now, pre-trial there was definitely a period of time when Wojcikcki was more famous. Keep in mind that Holmes was famous in SV/VC circles, not American popular mindshare.
it's funny how everybody thinks 23andme has some sort of grand plan. they had a grand plan. it didn't work out. now they provide a service that tells you who your relatives are and where you came from (genetically), which works well. But the health side of their product continues to be useless. Genomics continues to be one of the most oversold fields.
I totally agree that genomics has been oversold, and that companies like 23andMe did a lot of the over hyping, but I would also argue that most in the field knew it was being overhyped, and they didn't speak out or they were ignored. The public and scientific fascination and fixation with DNA in and of itself prevents a lot of people from looking critical at it and how it's actually useful. We attribute too much magic to it.
We are not at Gattaca levels of DNA predictions, not merely because of lack of tech development, but because the DNA doesn't actually tell us that. Given the weak clues that DNA actually gives about the individual, Gattaca is a cautionary tale about what happens when people believe too much in bad predictions, and enshrine bad models as a metric of social worth. Any society could fall prey to this, but today it seems more likely the bad models will be based on predictive modellijg from monitoring social media than from DNA.
Federal research programs also bit too hard on the promises as well, and invested heavily in genome-wide-association-studies (GWAS) to very little effect. I chose my HN username as these were getting deployed, much out of frustration with that direction of research. The clues, even early on into a massive spend, we're that GWAS wouldn't be terribly productive.
I think the biggest risk of being oversold right now are the "polygenic risk scores" being used for various quantitative traits, which fail to generalize very well. As more advanced machine learning techniques are used, we are likely to get even worse models. The curse of dimensionality makes the problem much more difficult than with traditional machine learning fields. Each case with a single label has millions of features, but we only get a very small number of cases relative to the number of features. And we are unlikely to be able to transform our feature space in ways that have worked well for, say, images by using spatial data. My personal hypothesis, by no means unique to me, is that we need to use the network of gene interactions as the feature transformation, but we don't yet have that network explored fully.
I don't know much about the services 23andme offers, but genetic testing is used extenstively and effectually by functional medicine practictioners every day, to do things like checking a patient's predisposition to certain illnesses, or to see if their body requires an unusually high or low amount of certain foods / nutrients, etc.
It didnt work out or wasn't allowed to work out? I can upload my data to promethease to get health reports. I bet these would be a lot more useful if we had been freely allowed to exchange this data with each other.
I feel the value in genomics is in the raw difficult science several levels of experimentation below the data. I fear that the biggest value for the present in much of the population scale genomics is in forensics rather than science.
Oversold as in "a genetic test will tell you how and when you will die"? True. But what we are doing today: telling people if they should take drug A, B or C, based on their mutations. Telling people if the fetus is affected by any of a pool of diseases. Pointing clinicians towards diagnostics (i.e. adding info, removing hypothesis...). Tracing diseases in genealogic trees and counselling future parents. Lots and lots of other goodies that were not available 10 years ago. And the best part is that there are much to come.
I think 23andme will truly have an impact once it starts doing full genome sequencing, because as of right now it just tests a very small subset of the whole genome.
You can tell a surprising amount about the genome from a subset of SNPs. Most germline variants occur in groups, so you only need to measure one position to know the values for that group. The variants that are chosen for the array based tests are carefully chosen to give you the most amount of information possible. If you’re interested in this, look up “genome imputation”.
For most of the tests that 23andme would want to run on a population, like risk assessment, you don’t get much more information from whole genome vs arrays. And the extra data (and noise) you get from whole genome can make association studies significantly more difficult.
Also with whole genomes, the extra cost in sequencing, storage, and processing time (all of which are significantly higher) wouldn’t be worth it from a cost/benefit point of view. Remember, most of the data is redundant or common between people, so full sequencing is really only beneficial in specific scenarios.
> If I have the world's health information, what could I do? And people were like, "Well, you could cure, you could save, you'd know a lot." The idea really was, well, we should do that.
> The idea really was, well, we should do that. Instead of relying on Stanford or Harvard or Pfizer to go and solve a disease or how to be healthy, we the people, we can do it.
When you use language like "we the people", users assume they'll be part of it. Not that Anne will be monetizing their data years later.
I also doubt many consumer read this interview or had any idea their data would be used this way. Maybe it's their fault for not reading the ToS carefully enough, but it's pretty hard for most people to really understand a ToS and also think about how the data could be used in the future.
In 2018 itself, 23andMe had a partnership with GSK
> As part of the collaboration, GSK can also change the way we invite patients into clinical trials. The genetic and disease information 23andMe customers share will allow us to identify the kind of patients who are most likely to respond well to new treatments so that 23andMe can invite customers who have consented to be contacted to participate in studies that are relevant to them. This could significantly shorten recruitment and reduce clinical development timelines, allowing some medicines to be delivered to patients faster.
So this isn't directly resultant from 23andMe but it's hard to overstate just what a revolution has happened in genetics in the last decade.
The specific subfield I'm talking about is genetic genealogy.
In the late 20th century, genetic testing was a revolution but it was a simple test. Given two samples X and Y it produced a boolean function:
f(x, y) -> { 1 if they match, 0 if they don't
This led to a number of convictions and exonerations. it has been a huge boon for both criminal prosecution and justice.
So what happened in the last decade is the development of a more sophisticated function:
f(x, y) -> [0, 1] showing how related they are
This most famously led to the identification of the Golden State Killer [1] and also helped identify victims of the Bear Brook murders [2].
In the space of 10 years this went from not existing to being a massive labour-intensive process to a trivial process. The use of this is now almost routine thanks to the likes of GEDmatch [3]
Beyond this, there's a whole bunch of ethical implications. Privacy covers things like what a DNA testing site can do with your data. This may potentially impact health insurance access in the like, particularly in the US (sadly).
But the really interesting part of this is that a person may be identified criminally or for insurance purposes without ever having uploaded a DNA sample through relatives who have. For example, if two cousins on both sides of your family have the recessive gene for Cystic Fibrosis, it increases the probability you do too (though simple Bayesian reasoning).
It's going to be interesting to see what comes of this because it's still early days.
That's what i signed up to many years ago. I liked their health reports. What's the reasoning for no longer allowing them to give us updated health reports? I don't personally care about my 6th cousins, i can barely keep up with the 2nd ones.
23andMe was insanely inaccurate for 100% of the predictions related to myself. I'm also concerned about what is known or suspected about my family. Especially, with how inaccurate the predictions are.
It's kind of weird to have this experience over and over again of being told I'm supposed to care about something that I find trivial.
Yeah, I assumed 23andMe would do stuff like this. I don't care. I'm not outraged. It doesn't bother me when people make money. And this doesn't strike me as a particularly surprising outcome.
I didn't know what this company does, so I've checked website, after usual banners galore, trying to cancel them all I am there.
The answer is short:
"Find out what your DNA says about you and your family." Then:
"- See how your DNA breaks out across 2000+ regions worldwide
- Discover DNA relatives from around the world
- Share reports with family and friends
- Learn how your DNA influences your facial features, taste, smell and other traits"
What is actual usage of this data? Education? Curiosity? To have something to be shared on Instagram? They don't mention predicting cancer risks, etc. at best this looks like some kind of hobby stuff, like building ones genealogy tree.
Or maybe the way to figure out if one is a true kids's father. Could have some interesting consequences.
Besides "Share reports with family and friends". Really, is this inevitable, does everything has to be shared with friends, even ones genome details? What next? Proctologist visit outcomes?
I don't even mention embarrassment of the "Customer Stories" section. "I feel very much at peace with my identity and who I am as a woman. I feel complete". I don't even want to guess if this is some marketing bullshit or someone really felt "complete" by checking genome...
People just don't realize that having their DNA hand over is a risk. A big risk. But I have to admit that company is at least very honest about this risk, which is good and rare, so that's a credit for them:
"In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests."
That's nice way to say, if we are breached, well, we've told you.
They also admit that will give ones data to law enforcement. Something good to know too. Genetic material taken from crime scene is often polluted, incomplete, so one can go to prison on behalf of the real criminal.
[+] [-] mabbo|4 years ago|reply
And as a side benefit, through this system I got to meet my second cousin and tell her what my mother remembers about her now-passed-on grandmother (that literally happened last night and I'm still excited about it).
I am a bit nervous about some of the 'we found the criminal by searching the company's DNA database' stuff. I think some regulation around that is needed. And perhaps 23andMe needs to make it more obvious to customers that they will do this research using the DNA.
But as an informed consumer, I was happy to become a customer and participant in this fascinating system.
[+] [-] myself248|4 years ago|reply
I don't think there are easy answers here, but it's a conversation we should be having.
[+] [-] tyingq|4 years ago|reply
[+] [-] SQueeeeeL|4 years ago|reply
[+] [-] bitL|4 years ago|reply
[+] [-] c7DJTLrn|4 years ago|reply
[+] [-] jasode|4 years ago|reply
It's not strange if you consider that Elizabeth Holmes proactively pursued the media appearances circuit. E.g. talk shows, award ceremonies, etc. Other female CEOs do more actual work and don't have the time for those distractions.
Also, Forbes' calculation of Holmes being worth ~4 billion based on 50% ownership of Theranos drew more media attention. The public fascination with (so-called) "billionaires" feeds the self-reinforcing cycle of more interviews.
In contrast, the media didn't calculate Anne Wojcicki to be a billionaire until recently: https://www.forbes.com/sites/leahrosenbaum/2021/06/17/23andm...
[+] [-] trentnix|4 years ago|reply
The press assures us they'd be better if we gave them a bunch of money (even begging for government money), but the truth is that it has always been like this.
[+] [-] cronix|4 years ago|reply
[+] [-] unknown|4 years ago|reply
[deleted]
[+] [-] ampdepolymerase|4 years ago|reply
[+] [-] cblconfederate|4 years ago|reply
Nah, she just didn't actively put the 10000 hours to pursue publicity. Journalists are lazy
[+] [-] HWR_14|4 years ago|reply
[+] [-] dekhn|4 years ago|reply
[+] [-] epistasis|4 years ago|reply
We are not at Gattaca levels of DNA predictions, not merely because of lack of tech development, but because the DNA doesn't actually tell us that. Given the weak clues that DNA actually gives about the individual, Gattaca is a cautionary tale about what happens when people believe too much in bad predictions, and enshrine bad models as a metric of social worth. Any society could fall prey to this, but today it seems more likely the bad models will be based on predictive modellijg from monitoring social media than from DNA.
Federal research programs also bit too hard on the promises as well, and invested heavily in genome-wide-association-studies (GWAS) to very little effect. I chose my HN username as these were getting deployed, much out of frustration with that direction of research. The clues, even early on into a massive spend, we're that GWAS wouldn't be terribly productive.
I think the biggest risk of being oversold right now are the "polygenic risk scores" being used for various quantitative traits, which fail to generalize very well. As more advanced machine learning techniques are used, we are likely to get even worse models. The curse of dimensionality makes the problem much more difficult than with traditional machine learning fields. Each case with a single label has millions of features, but we only get a very small number of cases relative to the number of features. And we are unlikely to be able to transform our feature space in ways that have worked well for, say, images by using spatial data. My personal hypothesis, by no means unique to me, is that we need to use the network of gene interactions as the feature transformation, but we don't yet have that network explored fully.
[+] [-] notshift|4 years ago|reply
[+] [-] cblconfederate|4 years ago|reply
[+] [-] NoFingerprints|4 years ago|reply
[+] [-] otherme123|4 years ago|reply
[+] [-] unknown|4 years ago|reply
[deleted]
[+] [-] farresito|4 years ago|reply
[+] [-] mbreese|4 years ago|reply
For most of the tests that 23andme would want to run on a population, like risk assessment, you don’t get much more information from whole genome vs arrays. And the extra data (and noise) you get from whole genome can make association studies significantly more difficult.
Also with whole genomes, the extra cost in sequencing, storage, and processing time (all of which are significantly higher) wouldn’t be worth it from a cost/benefit point of view. Remember, most of the data is redundant or common between people, so full sequencing is really only beneficial in specific scenarios.
[+] [-] deepsun|4 years ago|reply
[+] [-] cblconfederate|4 years ago|reply
[+] [-] revolvingocelot|4 years ago|reply
[+] [-] travisparker|4 years ago|reply
[+] [-] mataug|4 years ago|reply
[+] [-] _red|4 years ago|reply
[deleted]
[+] [-] sgslo|4 years ago|reply
Anne Wojcicki has been upfront with this strategy for many years, even in a fantastic podcast with YC back in 2018: https://www.ycombinator.com/library/5I-on-starting-and-scali...
> If I have the world's health information, what could I do? And people were like, "Well, you could cure, you could save, you'd know a lot." The idea really was, well, we should do that.
[+] [-] thesausageking|4 years ago|reply
> The idea really was, well, we should do that. Instead of relying on Stanford or Harvard or Pfizer to go and solve a disease or how to be healthy, we the people, we can do it.
When you use language like "we the people", users assume they'll be part of it. Not that Anne will be monetizing their data years later.
I also doubt many consumer read this interview or had any idea their data would be used this way. Maybe it's their fault for not reading the ToS carefully enough, but it's pretty hard for most people to really understand a ToS and also think about how the data could be used in the future.
[+] [-] tchalla|4 years ago|reply
> As part of the collaboration, GSK can also change the way we invite patients into clinical trials. The genetic and disease information 23andMe customers share will allow us to identify the kind of patients who are most likely to respond well to new treatments so that 23andMe can invite customers who have consented to be contacted to participate in studies that are relevant to them. This could significantly shorten recruitment and reduce clinical development timelines, allowing some medicines to be delivered to patients faster.
https://us.gsk.com/en-us/behind-the-science/innovation/you-m...
I'm not sure what the "news" is.
[+] [-] unknown|4 years ago|reply
[deleted]
[+] [-] cletus|4 years ago|reply
The specific subfield I'm talking about is genetic genealogy.
In the late 20th century, genetic testing was a revolution but it was a simple test. Given two samples X and Y it produced a boolean function:
This led to a number of convictions and exonerations. it has been a huge boon for both criminal prosecution and justice.So what happened in the last decade is the development of a more sophisticated function:
This most famously led to the identification of the Golden State Killer [1] and also helped identify victims of the Bear Brook murders [2].In the space of 10 years this went from not existing to being a massive labour-intensive process to a trivial process. The use of this is now almost routine thanks to the likes of GEDmatch [3]
Beyond this, there's a whole bunch of ethical implications. Privacy covers things like what a DNA testing site can do with your data. This may potentially impact health insurance access in the like, particularly in the US (sadly).
But the really interesting part of this is that a person may be identified criminally or for insurance purposes without ever having uploaded a DNA sample through relatives who have. For example, if two cousins on both sides of your family have the recessive gene for Cystic Fibrosis, it increases the probability you do too (though simple Bayesian reasoning).
It's going to be interesting to see what comes of this because it's still early days.
[1]: https://en.wikipedia.org/wiki/Joseph_James_DeAngelo
[2]: https://en.wikipedia.org/wiki/Bear_Brook_murders
[3]: https://www.gedmatch.com/
[+] [-] cblconfederate|4 years ago|reply
[+] [-] citilife|4 years ago|reply
[+] [-] ernst_10|4 years ago|reply
[+] [-] dionidium|4 years ago|reply
Yeah, I assumed 23andMe would do stuff like this. I don't care. I'm not outraged. It doesn't bother me when people make money. And this doesn't strike me as a particularly surprising outcome.
[+] [-] piokoch|4 years ago|reply
The answer is short: "Find out what your DNA says about you and your family." Then: "- See how your DNA breaks out across 2000+ regions worldwide - Discover DNA relatives from around the world - Share reports with family and friends - Learn how your DNA influences your facial features, taste, smell and other traits"
What is actual usage of this data? Education? Curiosity? To have something to be shared on Instagram? They don't mention predicting cancer risks, etc. at best this looks like some kind of hobby stuff, like building ones genealogy tree.
Or maybe the way to figure out if one is a true kids's father. Could have some interesting consequences.
Besides "Share reports with family and friends". Really, is this inevitable, does everything has to be shared with friends, even ones genome details? What next? Proctologist visit outcomes?
I don't even mention embarrassment of the "Customer Stories" section. "I feel very much at peace with my identity and who I am as a woman. I feel complete". I don't even want to guess if this is some marketing bullshit or someone really felt "complete" by checking genome...
People just don't realize that having their DNA hand over is a risk. A big risk. But I have to admit that company is at least very honest about this risk, which is good and rare, so that's a credit for them:
"In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests."
That's nice way to say, if we are breached, well, we've told you.
They also admit that will give ones data to law enforcement. Something good to know too. Genetic material taken from crime scene is often polluted, incomplete, so one can go to prison on behalf of the real criminal.
[+] [-] dmix|4 years ago|reply
Does that mean we could get to the point where they’ll pay us to get access to our DNA (+ medical history?).
[+] [-] pkphilip|4 years ago|reply
[+] [-] hoseja|4 years ago|reply
[deleted]
[+] [-] wly_cdgr|4 years ago|reply
[+] [-] guilhas|4 years ago|reply