All Those 23andMe Spit Tests Were Part of a Bigger Plan
bloomberg.com
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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.
- https://you.23andme.com/user/edit/privacy/
There is also the danger of people having a false sense of privacy by opting out of 1 or 2 genetic tests. This is shared information between relatives and the population at large, not exactly top secret data. The degrees of separation between you and me are 2-3 , so it s very easy to identify people indirectly , hence why it was possible to solve decades-old crimes.
I think our genetic information is less private than the contents of our brains, in general.
I don't think there are easy answers here, but it's a conversation we should be having.
Edit:
Or, by the same token: a parent is liable for diluting the value of their siblings DNA because they passed that DNA on to children. I don't see this going anywhere.
It's like sharing your private key, knowing that others also use that private key.
You immediately make a large portion of your family tree discoverable.
It's the same underlying reason that we (most of us lol) treat revenge porn as a bad thing. You take someone else's blanket of privacy away without their consent.
If you give anyone (say, PayPal) your address, you’ve given then your roommates’ address as well - since you share the same IP. Nobody cares, even though the third party can immediately begin identifying your roommates without harvesting their DNA, like they would in the case of 23andme.
There’s a slight difference.
I suspect you’re attacking a strawman.
Close family member of Rich And Successful CEO founds successful company is not an interesting story. In fact it is how most people assume it works, if you come from a rich family of course your company is a success. 'Poor' kid pulls themselves up by their own bootstraps and builds company with nothing but grit and brilliance, now that is a story you can sell. Especially if it's a company doing something the 'experts' said couldn't be done.
Undoubtedly Holmes was also good at marketing. That alone is a skill, one that alone admittedly doesn’t make a viable product, but that’s the real explanation for her success.
Who's Holmes? GP has probably been spending too much time on the grey web.
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.
Part of it is due to monetary incentives of businesses that now own the media outlets. Part of it is due to what the general public has interest in and will pay for.
Like pretty much all professions, it's also become far more demanding to be a good journalist or investigative journalist due to how many stories reported on require more specialized knowledge to understand and portray correctly. The bar used to be lower and a journalist could better grasp a situation or understanding. Now, with a lot of technology and science, you pretty much need a pretty deep and well rounded background to properly understand and address issues. The general bar of education has risen, including that of deceitful people, which places even higher demands on journalists to put them in check.
Could dig further into the point but the moral of the story is that the bar is raising to a point where misinformation and disinformation have an edge due to the sheer volume of information, lack of ability for any one person to have enough understanding, and incentives to be deceitful. That means the barrier to entry cost to dig out deceit has often become too high. I'm surprised we see much of any interesting investigative journalism anymore aside from uncovering some of the more obvious and massive schemes. Forget catching clever and sophisticated deceit, you need whistle-blowers for this.
This should be an entire discussion thread. Even scrupulous journalistic outlets have to stay competitive on the business side. And people don’t want facts, they want a story; something to spawn feeling instead of thought.
What happened instead is that the bottom fell out. There are so many newer sources of information today but most of them are very poor so the average quality of news has precipitously dropped. But as it always goes, the good stay good.
I currently pay about $40/month in news and magazines (but borrow Netflix/Hulu/HBO/etc. from friends, lol) and I enjoy the news I get. It’s a range of current events to policy analysis.
I think a bigger change is that previously what people thought of events didn’t honestly matter as much in day to day policy dealings either. People weren’t any more informed back then — they just didn’t even know what was going on, for better and worse.
lol WHAT?
- https://www.motherjones.com/
- https://www.themarshallproject.org/
the problem is that folks like yourself want to sit back and have news come to you as a consumptive activity, and you expect it for free. you have to actively go out and seek valid sources of information -- you can't have your worldview shaped for you.
In the "days of yore" the quality of journalism was higher? Journalists regularly omitted things from reporting that was widely known to support popular political narratives or their own ideas of what good outcomes would be, "for the good of the country".
Investigative journalism is alive and probably better than ever before despite being less profitable than wildly irresponsible opinion masquerading as journalism.
Look at the Pulizer Won by the Boston Globe for 2021, lifesaving investigative journalism that is expensive and difficult- and exactly the sort of thing that the Golden Age would have never dug up.
To paraphrase Mitch Hedburg, sure, they used to. They still do, but they used to, too. But now there are fewer of them.
>Investigative journalism is alive and probably better than ever before despite being less profitable than wildly irresponsible opinion masquerading as journalism.
This strikes me as kind of a crazy claim, but in the grandparent I was bemoaning the decline of functional local journalism. The rot hasn't really, truly hit big newspapers in big cities; the parent's citation of the continued existence of the Pulitzer Prize for Investigative Reporting kinda doesn't change the realities of the local news, the decline of which is evident, well-studied, and heralds corruption of both democracy and mere finance.[0][1][2]
I've linked blog-level readings, but feel free to scrutinize the links in the Global Anti-Corruption Blog article [0] for more academic analysis on the topic.
Look to groups like Alden Capital [3], which buy up and destroy small-town American news sources. You'll find that those disappearing local papers used to pen most of the original reporting in the US. It's so fucking evident that mainstream institutions like PBS and NPR and even Netflix recognize it -- namely, "The Patriot Act with Hasan Minhaj" [4] on exactly what I'm talking about.
[0] https://globalanticorruptionblog.com/2021/01/25/the-decline-...
[1] https://niemanreports.org/articles/less-local-news-means-les...
[2] https://www.wgbh.org/news/commentary/2018/06/06/a-new-study-...
[3] https://www.npr.org/2021/10/18/1046952430/the-consequences-o...
LA Times might possibly qualify. Other than that, I'm stumped.
Any city of < 1m population ... yeah, it's dead.
I do dispute the notion expressed by the parent to my reply that there "used to be a thing called "investigative journalism", largely snuffed out now" which I stand by my position is a baffling statement. You can look at the homepage of ProPublica every day and read things that would never have any hope of seeing the light of day 15 or more years ago and are important stories.
And I really do think the fact remains that the ethical standards of the "days of yore" were garbage, modern reporters would break the shit out of news that the good ole boys would let go from the 50's all the way well into the 80's.
"The Press" is also who exposed Theranos (and Holms) as a fraud.
Theranos' big claim was they could do tests on a much smaller amount of blood. Perhaps they didn't end up doing that for Walgreens since they used externally sourced hardware, in which case they were just another test provider and if they tested out OK in ongoing QA, I don't see a problem with that from partner POV, but just from the investor POV who expected a new technology to get an edge over the competition.
IIRC they were using smaller than usual blood samples and feeding them into external testing hardware by watering down to required size. This sounds bad; but if it doesn't show up in QA - then maybe it's a legitimate advancement. If it makes testing less reliable and it doesn't show up in QA - then QA needs to be fixed. If it does show up in QA - Walgreens never should have agreed. If it does show up in QA but Walgreens never noticed - that is a problem to address.
I guess the initial deal was done on salesmanship and promises, so maybe they would have found out sooner or later.
RThey were already "found out" well before the articles were published, it's just that most VC aren't going to go out of their way to tank you, they just decline to invest
You could make a blanket statement like restaurant food isn’t very good, and on average that might be true, but anyone that knows what they’re doing would just laugh at that statement.
https://jamanetwork.com/journals/jama/article-abstract/21109...
Mostly true, and sad part if enough do that, then the rest follow.
Kinda also gets down to how many likes a press release gets upon social media and we all know how that is a rose-glassed slant of the full public opinion.
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...
Nah, she just didn't actively put the 10000 hours to pursue publicity. Journalists are lazy
I don't think that's true. Holmes was on the cover of plenty of mainstream magazines and newspapers like Time, Fortune and Glamour.
I have also got a full 30x sequencing from a bargain offer, but i haven't analyzed those. Never got to it, apart from downloading some app to browse them. Which stresses my point why the analysis that these services could provide is useful.
Note: I have 25+ years experience in this field, I'm not just spewing out random beliefs.
You mean this functional medicine? Or are you using the term in a different way?
> Functional medicine is a form of alternative medicine that encompasses a number of unproven and disproven methods and treatments.
> It has been described as pseudoscience,[5] quackery,[6] and at its essence a rebranding of complementary and alternative medicine.
Descriptions like the above which seek to attack and discredit any form of alternative medicine will always exist because mainstream medical practice first seeks to enrich corporations and only secondarily tries to help patients. (Not on an individual level, but structurally.)
I'd invite you to check out the YouTube channels or any of the books written by Dr. Mark Hyman or Dr. Gundry; the content they put out is incredible and has had a huge positive impact on my life.
The two people you mentioned seem to be regarded negatively by the scientific community.
Dr. Mark Hyman
> He was the editor-in-chief of, and is a contributing editor to, Alternative Therapies in Health and Medicine.
Looking at that journal it's definitely filled with crank nonsense.
And Dr. Gundry I assume is Steven Gundry, who is best known for false claims about lectins.
This doesn't constitute strong evidence and isn't how science works.
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.
How do the hits from large scale GWAS fail to generalize within a population? Why would you get worse models with more advanced techniques, presumably the more advanced techniques would only be used instead of the simple ones if they are proven to work.
Great question! I haven't revisited the question in quite some time, but one possible explanation is sometimes called the "winner's curse." There's a "measurement error" for each site in that genetics is never deterministic, and when you have millions of sites, and only thousands of cases split into yes/no categories. If a particular site explains only 10% of the "yes" cases, it could be that random sampling makes it look like 15% or 7% or whatever. And when you have a handful of sites, each with measurement error of this sort, when you sort the handful of sites, the genomic sites with the biggest effect are likely to come from random chance.
More advanced models have a greater ability to find spurious signals, to overfit the data, and to mispredict. Training with more parameters, correctly, often requires more data, and the biggest limitation to GWAS is the amount of data. For some rare conditions, there may not be bough humans alive to provide the data fully needed, if we are going only by GWAS. Because GWAS doesn't have any model for how cells work, and the naturally occurring variation in the human population is unlikely to provide enough data to reconstruct the relationships that are necessary to rebuild the parts of that physical model in order to make predictions from DNA alone.
There are also potentially different prevalence of causal variants in different populations, depending on the interactions between different genes. In the San Francisco East Bay, there's a mixing of many many previously geographically different human populations. Rare diseases that are most prevalent in one population are starting to present differently when there's admixture with more distantly related humans. The whole combination of minor differences can cause changes to what we think was a well-defined disease.
Point mutations occurring outside SNPs are almost by definition not yet useful. If we know what the gene does or is related to, it's an SNP.
But a new mutation never reported before can as dangerous as you want. A case we found: a woman already developed an illness in her adult life, lets supose it was renal failure. We suspected a genetic root, so we sequenced her exome, founding a never reported mutation that frameshifted a gene previously associated with renal failures. We quickly panel-sequenced her parents and children to check if they had the mutation, which none of them had. So the woman had a de novo mutation in heterozygosis that their little kids were lucky enough to avoid. Imagine the relief. Not useful? I disagree.
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.
And you store more information than just the raw sequence (quality scores, multiple reads, etc).
But if you’re looking for what is going on in an individual, then yes… SNP chip data isn’t as informative as whole genome (or exome) sequencing.
"The act bars the use of genetic information in health insurance and employment: it prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future, and it bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions."
Do we honestly believe the law would consider the whole score tainted and unusable for all the named purposes? Would it have teeth to do anything about it?
Furthermore, it's easy to end-run around it like they've done with car insurance. Instead of raising the rates of privacy-conscious drivers, we'll raise everyone's rates and then offer "discounts" to people willing to submit to tracking. There, perfectly legal!
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.
> 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.
Number of genotyped customers:
FY18A: 2.4M
FY19A: 3.4M
FY20A: 2.0M
FY21A: 1.5M
FY22Q1: 0.3M
Numbers from https://investors.23andme.com/static-files/8db681b8-4ea3-452... (page 11)Wojcicki claimed it was the privacy concerns in a WSJ interview from 2019: https://archive.md/E1Zqw
> 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.
Pedantically, yes "we the people" are part of it - we gave the company our DNA sample. Not sure what you're trying to say?
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.
[1]: https://en.wikipedia.org/wiki/Joseph_James_DeAngelo
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.
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.
Have you really never asked yourself where you come from? You don’t think that’s an interesting conversation piece?
Does that mean we could get to the point where they’ll pay us to get access to our DNA (+ medical history?).
why is that an issue? aren't villains known for their lack of care for their henchmen[1]? Also, apparently covid isn't really transmitted via physical contact[2], so operating such a lab probably isn't too dangerous. Finally, presumably there's PPE to protect against this sort of stuff, if you're not the type of villain that mistreats their henchmen.
[1] https://tvtropes.org/pmwiki/pmwiki.php/Main/BadBoss
[2] https://www.cdc.gov/coronavirus/2019-ncov/more/science-and-r...
https://inews.co.uk/news/covid-testing-provider-investigated...