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Twins get different results when they put 5 ancestry DNA kits to the test

574 points by Gaessaki 8y ago

wenc 8y ago
This is one of those HN threads with a lot of misinformation by people who don't know the subject area well but have a strong opinion anyway. It would be helpful if folks would state their credentials/experience with respect to the subject area in their comment. Mine: none whatsoever, but am interested in reading informed discussions with folks with either credentials or experience in subject matter.
- OldSchoolJohnny 8y ago
  > This is one of those HN threads with a lot of misinformation by people who don't know the subject area well but have a strong opinion anyway. So essentially just like every thread in every online discussion group then?
  - wenc 8y ago
    Well, computer-related topics tend to be ok around here... not always, but at least there's a critical mass of folks who work in the area so the probability of coming across an informed opinion is much higher.
- DanBC 8y ago
  Here's some people who do know what they're talking about who think these tests are bullshit. https://www.bbc.co.uk/news/science-environment-21687013 https://www.bbc.co.uk/news/science-environment-21687013
buboard 8y ago
The great thing is that their dnas were shockingly similar. It means the sequncing is valid. Now the ancestry composition thing is known to be a nonstandard procedure , just look at their research publications.
- captncraig 8y ago
  I'm imagining some kind of machine-learning training set based algorithm for determining the ancestry percentages. Even at 99.6% difference (due to mutations over time or sampling error) over 700k samples there's gonna be ~300 sequencing differences between twins. Enough to make their ML system draw different inferences for sure.
  - buboard 8y ago
    23andme has some publication about their method. the thing is , they have a lot more data than what is available in public repositories so they basically established their own system.
- sonnyblarney 8y ago
  Yes, this is an upside down story. If the post analysis shows nearly identical DNA that's great. The whole '% from this or that country' has to be necessarily fuzzy, because that's just a probability game anyhow.
  - buboard 8y ago
    it is. and tbh ancestry is the least interesting part for me, since i more or less know my ancestry . however, the very distant cousins that i have found in US and CA are very excited to know where they came from. This must be a mostly american thing.
    - slfnflctd 8y ago
      > This must be a mostly american thing Part of the old-school American tradition many regions (mostly rural, which is where over 80% of residents lived at one time) was to have a bunch of kids and encourage them to spread out as far & wide as they wanted; this still continues in some places. The logistics of 'keeping in touch with family' have some pretty hard limits past a certain point, and recordkeeping can be haphazard/fragile. A great many people in North America have significant trouble tracing their ancestry back past their great-grandparents.
TheArcane 8y ago
So ancestry companies are a sham?
- OedipusRex 8y ago
  What you give up (your dna) and what you get back (ancestry data of a dubious validity) doesn’t seem worth it to me.
  - AnIdiotOnTheNet 8y ago
    That doesn't make it a sham.
    - socrates1998 8y ago
      Yes it does. They are selling it as DNA = Ancestry. For me, that is blatantly misleading at best and fraudulent at worst.
- deleted 8y ago
  [deleted]
- docker_up 8y ago
  Being off by a few percent from nothing more than a cheek swab doesn't seem like a sham. I'm sure if they got a lot more sample to test from it could be made more accurate. Have you looked at things like thermometers? They don't offer more than +- 2F accuracy for those under $100. Some meters, etc only offer +- 5% accuracy or worse. Those aren't shams.
  - kodablah 8y ago
    In the article, one service reports 61% Balkan and another reports 23%. That one algorithm is mostly accurate within itself is hardly notable. That they're not close with one another means that one of them is way off or the industry is very inaccurate. If the latter is correct yet they're purported to be reasonably accurate, it's a sham.
deleted 8y ago
[deleted]
dentemple 8y ago
It sounds like these companies are running very inefficient machine learning algorithms.
- gammateam 8y ago
  Or very efficient Depending on the actual goal of having people submit all their information for entertainment purposes
  - brootstrap 8y ago
    Yeah , i mean they have advertising, and people are interested in it. My wife wanted to get one and i was like WIFE, we know where you come from. Your dad was born in Mexico and your mom has some spanish roots. I aint payin any money for this garbage. For all we know they just have some empirical machine learning model they came up with. Or for the public, groundbreaking AI techniques to trace your roots with pinpoint accuracy all for one low fee
    - gammateam 8y ago
      Well most of the entertainment is finding out you didnt know where you come from And new relatives
    - devereaux 8y ago
      > i was like WIFE, we know where you come from. Your dad was born in Mexico and your mom has some spanish roots. I aint payin any money for this garbage Could have been worse- you could have said "female, we know..." Besides the needlessly dismissive tone, you are neglecting how know where the family came from is important to some people
      - skj 8y ago
        I assumed the all-caps "WIFE" was a stand-in for the actual person's name, which the poster did not want to reveal.
jedberg 8y ago
You don't need twins for this test. A single person can just sign up twice for these services and get different results, even if they make a single sample and split it between the two vials. I thought it was pretty well known that these services are estimates only to a large degree? These services only take samples, they don't sequence the entire genome. Of course there will be errors when you have to extrapolate from a sample. Even for me personally, my results changed when my parents did it and linked up to me, because their results were able to flow into mine.
- BoiledCabbage 8y ago
  If you sign up twice, won't they match your account and merge the results specifically to avoid this problem? I think part of why they used twins is to say its two different people so they'd have to treat it different. I'm actually curious how repeatable the results are. If they are using sampling of portions of the DNA (are they?) how much variability is there in a single dna sampling enun through the algorithm 10 times? Similarly for how much variability in 10 dna samples from the same person?
  - dspillett 8y ago
    > If you sign up twice, won't they match your account and merge the results specifically to avoid this problem? Not if you sign-up with someone else's identity and pay with a different card. I very much doubt they go to any effort to verify the human the sample came from is the same human who paid and who the results are set to be sent to.
    - mrits 8y ago
      "You have another 100% match!"
      - darepublic 8y ago
        `Twins find each other through DNA service 23andme` read the hackernews post title
hatchnyc 8y ago
> Lack of oversight > Despite the popularity of ancestry testing, there is absolutely no government or professional oversight of the industry to ensure the validity of the results. > It's a situation Gravel finds troubling. What is up with this incessant clamoring for a nanny to supervise every little thing? This is published on a page where, thanks to "oversight", I have to click a little spam box warning that this page, like every other damn website on the internet, uses cookies. No thank you. I really don't want to pay more taxes for the Central Bureau of Making Sure You Know You Might Be 7% Less Eastern European than Your DNA Test Indicates.
- panopticon 8y ago
  That's overly reductive. There are people making lifestyle changes and healthcare decisions in reaction to the results of their DNA test, so the accuracy of these tests may be more important than "woops, we placed you in the wrong European ethnic group". And I guess we remove all oversight now because of a bad example? Pack it in, FDA. We're done monitoring food safety thanks to cookie banners.
  - dahfizz 8y ago
    You're being equally reductive. Obviously all of this exists on a spectrum. Most reasonable people would agree that the FDA is a net positive. Most reasonable people would agree that the government monitoring every private conversation happening in the country and jailing everyone who tells a lie would be a net negative. The happy medium for government checks on behavior is somewhere in the middle. Your parent makes the argument, very reasonably imo, that the overhead and cost of regulating these types of company's results are not worth the upside. People make lifestyle choices based on things they hear from palm readers - we don't use the government to regulate and test the validity of psychics. I think this falls into the same category.
    - panopticon 8y ago
      > The happy medium for government checks on behavior is somewhere in the middle. That was my point. > Your parent makes the argument, very reasonably imo, that the overhead and cost of regulating these types of company's results are not worth the upside. I think we read different comments; all I got was a snarky condemnation of government oversight.
drugme 8y ago
I wouldn't mind paying a fair sum for a service that would: (1) reasonably guarantee that my data not only won't be distributed - but will be destroyed (on their side) within a short time frame (2) give me access to all of the raw data and methodologies used in their analysis Does anyone know of such a service?
- inetknght 8y ago
  1) Pay for sequencing, get raw FASTQ or CSV files. 2) Run your own analysis. Open source industry standard software exists.
  - philg_jr 8y ago
    Is this actually an option with the popular companies?
    - inetknght 8y ago
      It's not advertised as such but yes, several companies allow you to obtain the "raw data" from the sequencer. The raw data is what gets fed into the analysis software which produces relationship and heritage estimates.
    - inetknght 8y ago
      It's also worth noting that if the company sells analysis products to EU residents then GDPR may require those companies to make the raw data available to the customer anyway.
- sonaltr 8y ago
  same here. I really want to learn more about my past and also learn about my DNA (and all there is to learn with that data), but the invasion of privacy by such companies is just unacceptable (hence my refusal to take such tests).
- _red 8y ago
  The only reasonable way of achieving those goals would be to allow totally anonymous submissions. Mail in a sample and simply have a code that you keep to check on results once they are processed. The fact that none of these services allow for anonymous submission should be a huge tell about their real motivations.
devereaux 8y ago
Techniques used to read DNA only read short segments, from which larger segments are inferred. Not surprisingly, the results are not reliable. Feed the unreliable result into any classification algorithm, and you still get unreliably results (actually I was expecting worse) Not only that, but you only read small parts- SNPs. So there is no bijection; just a rough correspondence. On the bright side, it's good for privacy.
- virusduck 8y ago
  I think you underestimate the quality and power of short read sequencing. Most well-designed sequence-based genotyping assays take into account the length of the read and are easy to read out. (You are thinking of issues with copy number variation and perhaps assembly of longer genes, which do have issues). The sticky part is the analysis--how realiable are your databases and your algorithm for representing the mix of SNPs and INDELs as %European...that is the question.
- klmr 8y ago
  > Techniques used to read DNA only read short segments, from which larger segments are inferred. I think you’re describing short-read sequencing here but this isn’t what any of these services does. They do microarray genotyping rather than sequencing. And in neither case is there “inference”. True there’s something called imputation but it works quite differently and I don’t think (though I don’t know) that 23andme uses it for ancestry. I’m also not sure what you mean by “bijection” in this context.
derekdahmer 8y ago
Their results seem well within the margin of error I'd expect out of a $100 DNA sequencing service. It's incredible that this kind of thing is now available at this price point.
kitbrennan 8y ago
Misleading headline in my opinion... Carly's results have a larger 'Broadly European' percentage, but that is a catchall that includes: Italian, Eastern European, Balkan, French & German, Iberian (Others category), and Broadly Southern European (Others category). Therefore Carly's 'Broadly European' traits could be used to match Charlsie's results. It is unfair to call the 23andMe results 'different'. They are getting the same results, however one twin is getting more specificity.
- badwolf 8y ago
  Which could potentially even just be explained by something as "simple" as cohort testing to show more specific breakdown vs a more regional view
- ssnistfajen 8y ago
  Why do people assume ancestry results from these DNA tests are "accurate"? Human ethnicity is a continuum, not distinct pools of genes. We are applying labels conceived by modern nationalism to several thousands of years of migration and intermarriage. It would be great if people stopped treating ancestry results from these tests as authoritative reference. There was a controversy about Korean & Japanese ancestry results from 23andMe where ethnic Koreans are sometimes classified as >30% Japanese. These two groups shared common ancestors since ancient humans migrated via the Korean Peninsula to the Japanese archipelago centuries before the modern nations of Korea and Japan came into existence. Slapping either one of these specific labels on shared ancestry is wildly inaccurate and short sighted.
  - aeneasmackenzie 8y ago
    Clumps appear in a principal component analysis, people just want to know how they look on one of those.
  - acdha 8y ago
    > Why do people assume ancestry results from these DNA tests are "accurate"? Years of highly visible advertising by these companies which implies they're accurate? All of those “discovery your ancestry” posters they put up around here had specific countries and locations.
virusduck 8y ago
99.6% is still awfully dissimilar, depending on what that number means. Thinking about single polymorphisms, of ca. 3 billion bases, that is still 120,000,000 SNPs between twins. Of course, they aren't doing full genome sequencing, and they are probably targeting loci that are know to be more divergent. Still... that similarity seems awfully low for twins. I wonder what they typically find for similarity between any two individuals. I also wonder if their lab is a little disorganized....
- klmr 8y ago
  Current estimates are that there’s a roughly 1 in 1000 difference between two individuals purely due to random mutations in the germline (or, put differently, the DNA replication error rate in human cells is about 1 in 1000). This would imply 99.9% expected similarity between two identical twins. However, this is in the germline. Somatic cells accumulate mutations over their life time (since they, too, divide and therefore need to replicate their DNA, and are furthermore exposed to environmental stress). In addition, the tests work off saliva samples which are mixed with all kinds of stuff in the mouth, and degrade slightly during transport. Lastly, there’s an inherent replication variability in the genotyping process (though this is very small). This back of the envelope estimate suggests that 99.6% similarity for somatic samples of identical twins is not unexpected.
  - opportune 8y ago
    Something tells me that the 1/1000 error rate you cite isn't truly accurate, or at least doesn't apply to all portions of DNA equally, because in almost every individual that would result in many SNPs with bad consequences since we have so many subsequences coding essential proteins
  - adenadel 8y ago
    This is not accurate. Coarsely, there are roughly 3 million SNPs (out of 3 billion total haploid bases) per individual. When we talk about individuals "sharing" DNA we mean these variants and not the 99.X% of DNA that we all have in common. When we refer to random mutations in the germline (i.e. de novo variants) current estimates of de novo variants per individual are in the low hundreds. The other factors you discuss are more likely to cause issues. One major one is the error rate of the microarray because of the high number of genotypes being assayed. If the chip has an error rate of 0.1% and 500k tests are performed you would expect 500 mis-calls. I used to work for Illumina, who makes these chips, but I worked on the DNA sequencing side of things so I don't know the actual error rate off the top of my head.
dekhn 8y ago
I would expect this level of variance in tests given the original twin genomes are not identical.
Balgair 8y ago
Semi-related: I was thinking about getting one of the newer iWatches, the one with the heart-rate monitoring and all that jazz. To me, those features are really cool and future-y. So, I waltz on down to the store and try one on. It reads my heart-rate and it seems to be fairly accurate. Ok, well, let's test it a bit. I start running in place. The heart rate goes up. I then just stand there, after a bit, the heart-rate goes down. Nice, the thing actually works! Well, they had a few of the iWatches sitting there, without anyone else taking a poke at them. So, I strap all the free ones on the arm. Well, they all gave different readings. I repeated the running in place test. Some went up and down much more than the others; maybe 10 bpm more. I tried re-arranging them on my arm and doing the running in place test again, you know, maybe it only works on the wrist since the blood is closer to the surface there? Nope, the readings were all over the place still. It was not super scientific of me. I mean, I was some strange person running in place in a store with a bunch of iWatches strapped to my arm. Maybe the watches have some sort of learning algo in them that was getting messed up with all the folks trying them on. Maybe I was wearing them 'wrong'. Maybe I should have waited 10 minutes between jogging sessions. I don't know. But, to me, these things have a long way to go. A lot of the bio-tech and bioengineering out there seems to be a bit of snake-oil right now. I really do want it all to work, I think that would be a great boon to us all [0]. If something like the iWatch can't give repeatable readings in nearly any way, then it's all just a gimmick and not useful. [0] I mean, can you imagine if Theranos' tech actually did work?! That would change medicine for the better in incalculable ways. I can see why that company's plan was so intoxicating.
- falcrist 8y ago
  That's surprising, since the heart rate monitors on many phones are quite accurate. Many will actually give an ECG-like trace indicating brief changes in blood pressure. I don't see any good reason they shouldn't be extremely accurate.
  - pc86 8y ago
    Well unless you're wearing a cuff you're not getting any blood pressure readings on your phone, and any "ECG-like trace" is a doodle at best as there's no electrical monitoring. Even chest straps that measure electrical output don't give you an ECG display.
paulcole 8y ago
These DNA kits are like astrology for people who think they're too smart for astrology.
phkahler 8y ago
What are the chances that these two people are not identical twins? i.e. fraternal. That could explain the differences in results from the same company. But they should also be quite trivially declared siblings in that case.
- gwern 8y ago
  Mistaken zygosity is quite rare, in the single percent range, after doing some tests like blood groups or hair whorls. In this case, the DNA overlap is vastly higher than would be expected for siblings: > According to the raw data from 23andMe, 99.6 per cent of those parts were the same, which is why Gerstein and his team were so confused by the results. They concluded the raw data used by the other four companies was also statistically identical. If they were siblings, ~50% of the (several hundred thousand) SNP calls would be the same, not 99.6%. (Which is about what you would expect from identical twins, since that's where either one disagrees with the other, and errors usually don't strike twice, so a 99.6% overlap roughly implies a per-SNP accuracy rate of sqrt(0.996) = 99.8%, which sounds reasonable given the difficulty of sequencing and the inherent noise & randomness.) On a fun side note, identical twins are not exactly 100% genetically identical, which is how rapist/murderer identical twins are being convicted these days based on DNA evidence; but there are so few unique mutations to each twin, and the new mutations wouldn't be on the common-SNP tests, that you have to do the equivalent of like 4 whole-genome sequences (IIRC, you need coverage of ~120x vs the more usual WGS of 30x) to get enough evidence to override the prior of any difference being just a repeated sequencing error, and it's very expensive.
stcredzero 8y ago
DNA in Europe is all mixed up. A lot of this is due to the Romans. There were also a lot of other migrations and displacements. I was watching a BBC documentary about how Rome influenced the history of Scotland. The announcer, who has a very pronounced Scottish accent, took a DNA ancestry test. The results (IIRC) indicated Germany, Italy, and eastern europe. (The announcer interpreted this last one as Dacia) Come to think of it, he doesn't look so different from Metatron. The twin results not matching is kinda disturbing, though.
jmull 8y ago
> ...suspects it has to do with the algorithms each company uses... switch (rand() % 100) {...}
socrates1998 8y ago
This is a great reason why I won't get this test done. The math is bad and (genetically identical) twins getting different results shows how bad the science is right now. This reminds me of when economics try to predict what the GDP will be next year. It's almost always wrong, so why would ever listen to anyone who is always wrong? It's mostly a scam, in my opinion.
- devereaux 8y ago
  Actually, the results are not so bad. The technique is rough, but even some basic MDS (multi dimensional scaling) on DNA gives things that look like the actual maps, so there is some scientific base. Also, you should not underestimate how not knowing where you ancestors came from is disturbing for many people. EDIT: for those who disagree, check what just the 1st two PC can give for European DNA after a simple rotation of the axis to match a map : http://blogs.discovermagazine.com/gnxp/files/genmap1.jpg http://blogs.discovermagazine.com/gnxp/files/genmap1.jpg I think it's fair to say there is a scientific base.
  - ralusek 8y ago
    Why should that be disturbing to some people? I think the vast majority of people, at least in America, have no idea where their ancestors came from. Is the usual "I'm part Irish part German part Cherokee" meaningfully more satisfying than "I'm west African?" I don't think it's a good thing for people to attempt to derive any aspect of their identity from their genealogical ancestry, it has no bearing on who you are as a person, and has the potential for great harm. I've seen it used to give people a false sense of culture and belonging to a community that they previously had nothing to do with. If you felt a connection to a particular culture or identity, should we really be telling people that their genome is responsible for determining whether or not they can associate parts of those cultures with themselves? Racism results from a failure to separate identity from genome. If you listen to the dogma of a white supremacist, it's heavily predicated on associating the accomplishments of their "European" forefathers with themselves. If you listen to the dogma of a black supremacist, it's heavily predicated on assuming the identity of the Egyptians or Israelites and associating their accomplishments with themselves. I really think that if an individual is truly "disturbed" by not knowing the precise nature of their lineage, that is an individual in search of an identity on a plate, and therefore highly corruptible. The motivation to learn more about one's ancestry should ideally not surpass the level of an intellectual curiosity.
EnFinlay 8y ago
I can't get past the sub headline: > Twins' DNA 'shockingly similar' Identical twins are supposed to have identical DNA, right? Or did I really misunderstand a lot of school.
- ralusek 8y ago
  No amount of schooling could have truly prepared you for precisely how similar twins' DNA would be. Shockingly similar.
- Tor3 8y ago
  As I understood it he expected the different results were due to contamination or other errors resulting in compromizing the raw data to some degree. The shocking part was that the raw data was ok while the results weren't ok to the same degree.
faitswulff 8y ago
Not surprised. Some consumer DNA testing companies can't even tell when the DNA submitted isn't human: https://www.nbcchicago.com/investigations/home-dna-kits-481292431.html https://www.nbcchicago.com/investigations/home-dna-kits-4812...
- macinjosh 8y ago
  Haha, very interesting. I've always wondered what would happen if I sent in a sample from my dog.
mberning 8y ago
The results are crap, but at least the national security apparatus has your DNA to use against you in the future.
- selimthegrim 8y ago
  They swab your cheek if you’re detained at a protest on federal property, why would they need this?
crb002 8y ago
Mitochondrial DNA chimeras?
inetknght 8y ago
Disclaimer: I currently work for a genetics genealogy company mentioned in this article. My comments are my own. Some relevant previous comment threads of mine about other DNA related articles: [0], [1], [2], [3] Personally, I would love to help create legislation aimed to protect consumers from perceived and actual problems related to DNA sequencing and analysis. I don't know how though and I fear it'd fall to the back burner in the current US political climate. Our customers are not only US but international though and that presents yet another dimension to the challenges therein. This article states: > Whatever your ancestry results, don't get too attached to them. They could change. That is absolutely correct. I've stated why in a previous comment [1]; Some DNA analysis software employ stochastic algorithms. That means that the answer they provide can be different if run more than once. The article also states: > Despite the popularity of ancestry testing, there is absolutely no government or professional oversight of the industry to ensure the validity of the results. That is also correct. I've heard peers state that the industry isn't regulated outside of the field of medicine during product discussions. I think that's something which needs to be addressed: leaving it unaddressed can encourage predatory business behavior. [0] https://news.ycombinator.com/item?id=18196717 https://news.ycombinator.com/item?id=18196717 [1] https://news.ycombinator.com/item?id=18196984 https://news.ycombinator.com/item?id=18196984 [2] https://news.ycombinator.com/item?id=18564380 https://news.ycombinator.com/item?id=18564380 [3] https://news.ycombinator.com/item?id=18569659 https://news.ycombinator.com/item?id=18569659
- buboard 8y ago
  > there is absolutely no government or professional oversight They are not allowed to sell health-related reports anymore in all of europe and other countries. While i think that some regulation and standards would be good, banning it overall was a dumb measure.
  - inetknght 8y ago
    Can you quote a specific law for that?
    - klmr 8y ago
chillingeffect 8y ago
I wonder why they didn't mention male microchimerism, a still poorly understand phenomenon, in which male DNA is found in females. Possible sources of gene transfer are " unrecognized spontaneous abortion, vanished male twin, an older brother transferred by the maternal circulation, or sexual intercourse" https://www.ncbi.nlm.nih.gov/pubmed/16084184/ https://www.ncbi.nlm.nih.gov/pubmed/16084184/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458919/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458919/
AngeloAnolin 8y ago
From the article (and the company themselves): "The company said it approaches the development of its tools and reports with scientific rigour, but admits its results are "statistical estimates." It is very likely that there's a fine print on their procedure that everything is a Guesstimate and while their algorithms will process things the same for every sample, there's just too much variations that are unaccounted for even in such controlled environments. What would surprise me for example is if someone sent in their DNA for analysis twice on the same company and get varying results. That would mean that the process itself is not well-established.
truantbuick 8y ago
None of the differences, either split by company or by twin seem egregious or even particularly unsatisfactory. They cite that AncestryDNA measured each of their DNA to be 99.6% similar, and really, that seems like the error rate you would about expect for the Ancestry results they got. They got the exact same regions and only a percentage point or two off in each region's share. It's not like they're fully sequencing every DNA sample they get. > AncestryDNA found the twins have predominantly Eastern European ancestry (38 per cent for Carly and 39 per cent for Charlsie). But the results from MyHeritage trace the majority of their ancestry to the Balkans (60.6 per cent for Carly and 60.7 per cent for Charlsie). This part of the article especially seems like hair splitting considering the Balkans and Eastern Europe tend to have a lot of overlap. In fact, "Balkans" in particular is an extremely ambiguous linguistic term and can mean so many different things to so many people.
- mattnewport 8y ago
  What's unsatisfactory is the way these companies present these results which implies a level of accuracy and precision which is unwarranted. "She also has French and German ancestry (2.6 per cent) that her sister doesn't share." I assume from this that 23andMe is reporting the results to this level of accuracy (a tenth of a percent). For the sister who got 2.6% they are strongly implying a certainty that she has a small amount of French and German ancestry rather than what actually seems to be the case which is a small chance of some French and German ancestry. Since it seems their results are quite lacking in both precision and accuracy they should do a better job of reporting them and advertising them in a way that makes that clear.
  - truantbuick 8y ago
    I can only speak for myself, but when I got one of these tests 6 years ago, I never got such an impression. They've updated my results several times since and I never feel hoodwinked as if I had been previously deceived; I'm always just curious to see what the latest estimates are. > I assume from this that 23andMe is reporting the results to this level of accuracy (a tenth of a percent). For the sister who got 2.6% they are strongly implying a certainty that she has a small amount of French and German ancestry rather than what actually seems to be the case which is a small chance of some French and German ancestry. You picked out the single biggest discrepancy they report in this article, and yet even that doesn't seem to indicate an actual inconsistency to me. I would tend to interpret those results to mean that for one twin, they felt sufficiently confident to call a portion of their DNA "French and German", while in the other it fell below that confidence threshold so it got thrown into the "Broadly European" share. This process already pretty much precludes objective perfection just based on what they're reporting. What does it mean for your ancestry to come 2.6% come from France? During what time period? What if it's on the border in one of those regions that switched hands several times? These are subjective decisions they have to make but it doesn't invalidate the whole test because occasionally you have enough evidence to call portion of your DNA "French and German" and sometimes you have to fallback to just calling it "Broadly European".
aj7 8y ago
OK now you can see the S/N ratio.
kbody 8y ago
It makes sense, what I was wondering though was about the difference if any of the raw DNA (SNP) data they provide.
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nanomonkey 8y ago
I'd like to get this done for myself and my parents (to distinguish where the different traits actually come from), but I'm a little wary of putting this sort of information out there when we don't know how it will be used in the future. And by whom. Are there services that you can pay extra that will do a full DNA sequence and have access to 23andMe's comparison data? Or am I being paranoid?
jlarocco 8y ago
TFA seems to be making a mountain out of a molehill to be sensationalist. I don't think anybody's ever claimed this type of mail in test is 100% accurate, and most of the results were within a couple percentage points of each other.
VLM 8y ago
Translating into IT / tech terms, people are VERY used to the concept of two .wav files sampled from the same CDrom being bit identical and useful in a court of law to prove both .wav files came from exactly the same music cd. However people are really worked up about a new online service that encodes multiple analog music sources into lossy mp3 samples using different analog encoders each time, and the service sells an "identify matches similar to this song" as a service that people think is the same level of exactness as the old fashioned court-of-law .wav file bit by bit comparisons, but its actually more of a lossy best guess pattern matching service instead. Yes they DO use the same general technology, mostly, but its quite different in purpose and outcome. An even better analogy is we are VERY used to an online service that OCRs a scan of a music CD and outputs the musician name every time based on OCR of the disc itself, and now people familiar with that technology are VERY confused by an app that listens to your cell phone mic and often squirts out the musician name based on that raw analog sound sample. Its more a miracle the new tech works at all, than a scandal that both business models aren't identical in accuracy.
ekianjo 8y ago
> According to the raw data from 23andMe, 99.6 per cent of those parts were the same 99.6% is hardly an impressive figure. I would expect 99.9999% between twins at least. Chimpanzees and humans already share about 96% of genes. https://news.nationalgeographic.com/news/2005/08/chimps-humans-96-percent-the-same-gene-study-finds/ https://news.nationalgeographic.com/news/2005/08/chimps-huma...
ekianjo 8y ago
I don't know if any company provides that, but I would like to have access to my raw data (I guess, several Gbs worth or DNA pairs information) and use a different 3rd party of my choice for the analysis. (This way there would be a lot more competition for various ways to look at data).
Dunedan 8y ago
I'm wondering what would happen if you'd send a GDPR request for deletion of personal data to such a DNA sequencing company. While you might not have sent them any of your DNA, relatives of you might have sent them theirs. Since DNA material can also be used to infer characteristics from close relatives, would DNA material of close relatives be considered personal data falling under the rules of GDPR?
drallison 8y ago
They really should have done the obvious quality control test: each of the twins should have done each DNA test several times, at least twice. Most comments seem to assume that the test samples were uncontaminated and that the sequencing was correct. Redundancy will help identify the source of the differences.
Improvotter 8y ago
I got a question to all of the Americans here. Why do you all care so much where you come from? Why are these services so popular? I honestly am not interested in my origins. Perhaps because I'm from Europe?
husamia 8y ago
The twins DNA is "nearly exactly" the same is an oxymoron. Nearly is not an exact. The twins have "virtually identical" ancestry profiles yet, their profiles are "shockingly similar" They are comparing a low resolution map the genome. The genome is 3+ billion nucleotides, only 700,000 (0.0002%) is being compared to find 0.04% difference! that is shockingly similar!
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slowm5 8y ago
strange

574 points by Gaessaki 8y ago

wenc 8y ago

This is one of those HN threads with a lot of misinformation by people who don't know the subject area well but have a strong opinion anyway. It would be helpful if folks would state their credentials/experience with respect to the subject area in their comment. Mine: none whatsoever, but am interested in reading informed discussions with folks with either credentials or experience in subject matter.

OldSchoolJohnny 8y ago
> This is one of those HN threads with a lot of misinformation by people who don't know the subject area well but have a strong opinion anyway. So essentially just like every thread in every online discussion group then?
- wenc 8y ago
  Well, computer-related topics tend to be ok around here... not always, but at least there's a critical mass of folks who work in the area so the probability of coming across an informed opinion is much higher.
DanBC 8y ago
Here's some people who do know what they're talking about who think these tests are bullshit. https://www.bbc.co.uk/news/science-environment-21687013 https://www.bbc.co.uk/news/science-environment-21687013

buboard 8y ago

The great thing is that their dnas were shockingly similar. It means the sequncing is valid. Now the ancestry composition thing is known to be a nonstandard procedure , just look at their research publications.

captncraig 8y ago
I'm imagining some kind of machine-learning training set based algorithm for determining the ancestry percentages. Even at 99.6% difference (due to mutations over time or sampling error) over 700k samples there's gonna be ~300 sequencing differences between twins. Enough to make their ML system draw different inferences for sure.
- buboard 8y ago
  23andme has some publication about their method. the thing is , they have a lot more data than what is available in public repositories so they basically established their own system.
sonnyblarney 8y ago
Yes, this is an upside down story. If the post analysis shows nearly identical DNA that's great. The whole '% from this or that country' has to be necessarily fuzzy, because that's just a probability game anyhow.
- buboard 8y ago
  it is. and tbh ancestry is the least interesting part for me, since i more or less know my ancestry . however, the very distant cousins that i have found in US and CA are very excited to know where they came from. This must be a mostly american thing.
  - slfnflctd 8y ago
    > This must be a mostly american thing Part of the old-school American tradition many regions (mostly rural, which is where over 80% of residents lived at one time) was to have a bunch of kids and encourage them to spread out as far & wide as they wanted; this still continues in some places. The logistics of 'keeping in touch with family' have some pretty hard limits past a certain point, and recordkeeping can be haphazard/fragile. A great many people in North America have significant trouble tracing their ancestry back past their great-grandparents.

TheArcane 8y ago

So ancestry companies are a sham?

OedipusRex 8y ago
What you give up (your dna) and what you get back (ancestry data of a dubious validity) doesn’t seem worth it to me.
- AnIdiotOnTheNet 8y ago
  That doesn't make it a sham.
  - socrates1998 8y ago
    Yes it does. They are selling it as DNA = Ancestry. For me, that is blatantly misleading at best and fraudulent at worst.
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docker_up 8y ago
Being off by a few percent from nothing more than a cheek swab doesn't seem like a sham. I'm sure if they got a lot more sample to test from it could be made more accurate. Have you looked at things like thermometers? They don't offer more than +- 2F accuracy for those under $100. Some meters, etc only offer +- 5% accuracy or worse. Those aren't shams.
- kodablah 8y ago
  In the article, one service reports 61% Balkan and another reports 23%. That one algorithm is mostly accurate within itself is hardly notable. That they're not close with one another means that one of them is way off or the industry is very inaccurate. If the latter is correct yet they're purported to be reasonably accurate, it's a sham.

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dentemple 8y ago

It sounds like these companies are running very inefficient machine learning algorithms.

gammateam 8y ago
Or very efficient Depending on the actual goal of having people submit all their information for entertainment purposes
- brootstrap 8y ago
  Yeah , i mean they have advertising, and people are interested in it. My wife wanted to get one and i was like WIFE, we know where you come from. Your dad was born in Mexico and your mom has some spanish roots. I aint payin any money for this garbage. For all we know they just have some empirical machine learning model they came up with. Or for the public, groundbreaking AI techniques to trace your roots with pinpoint accuracy all for one low fee
  - gammateam 8y ago
    Well most of the entertainment is finding out you didnt know where you come from And new relatives
  - devereaux 8y ago
    > i was like WIFE, we know where you come from. Your dad was born in Mexico and your mom has some spanish roots. I aint payin any money for this garbage Could have been worse- you could have said "female, we know..." Besides the needlessly dismissive tone, you are neglecting how know where the family came from is important to some people
    - skj 8y ago
      I assumed the all-caps "WIFE" was a stand-in for the actual person's name, which the poster did not want to reveal.

jedberg 8y ago

You don't need twins for this test. A single person can just sign up twice for these services and get different results, even if they make a single sample and split it between the two vials. I thought it was pretty well known that these services are estimates only to a large degree? These services only take samples, they don't sequence the entire genome. Of course there will be errors when you have to extrapolate from a sample. Even for me personally, my results changed when my parents did it and linked up to me, because their results were able to flow into mine.

BoiledCabbage 8y ago
If you sign up twice, won't they match your account and merge the results specifically to avoid this problem? I think part of why they used twins is to say its two different people so they'd have to treat it different. I'm actually curious how repeatable the results are. If they are using sampling of portions of the DNA (are they?) how much variability is there in a single dna sampling enun through the algorithm 10 times? Similarly for how much variability in 10 dna samples from the same person?
- dspillett 8y ago
  > If you sign up twice, won't they match your account and merge the results specifically to avoid this problem? Not if you sign-up with someone else's identity and pay with a different card. I very much doubt they go to any effort to verify the human the sample came from is the same human who paid and who the results are set to be sent to.
  - mrits 8y ago
    "You have another 100% match!"
    - darepublic 8y ago
      `Twins find each other through DNA service 23andme` read the hackernews post title

hatchnyc 8y ago

> Lack of oversight > Despite the popularity of ancestry testing, there is absolutely no government or professional oversight of the industry to ensure the validity of the results. > It's a situation Gravel finds troubling. What is up with this incessant clamoring for a nanny to supervise every little thing? This is published on a page where, thanks to "oversight", I have to click a little spam box warning that this page, like every other damn website on the internet, uses cookies. No thank you. I really don't want to pay more taxes for the Central Bureau of Making Sure You Know You Might Be 7% Less Eastern European than Your DNA Test Indicates.

panopticon 8y ago
That's overly reductive. There are people making lifestyle changes and healthcare decisions in reaction to the results of their DNA test, so the accuracy of these tests may be more important than "woops, we placed you in the wrong European ethnic group". And I guess we remove all oversight now because of a bad example? Pack it in, FDA. We're done monitoring food safety thanks to cookie banners.
- dahfizz 8y ago
  You're being equally reductive. Obviously all of this exists on a spectrum. Most reasonable people would agree that the FDA is a net positive. Most reasonable people would agree that the government monitoring every private conversation happening in the country and jailing everyone who tells a lie would be a net negative. The happy medium for government checks on behavior is somewhere in the middle. Your parent makes the argument, very reasonably imo, that the overhead and cost of regulating these types of company's results are not worth the upside. People make lifestyle choices based on things they hear from palm readers - we don't use the government to regulate and test the validity of psychics. I think this falls into the same category.
  - panopticon 8y ago
    > The happy medium for government checks on behavior is somewhere in the middle. That was my point. > Your parent makes the argument, very reasonably imo, that the overhead and cost of regulating these types of company's results are not worth the upside. I think we read different comments; all I got was a snarky condemnation of government oversight.

drugme 8y ago

I wouldn't mind paying a fair sum for a service that would: (1) reasonably guarantee that my data not only won't be distributed - but will be destroyed (on their side) within a short time frame (2) give me access to all of the raw data and methodologies used in their analysis Does anyone know of such a service?

inetknght 8y ago
1) Pay for sequencing, get raw FASTQ or CSV files. 2) Run your own analysis. Open source industry standard software exists.
- philg_jr 8y ago
  Is this actually an option with the popular companies?
  - inetknght 8y ago
    It's not advertised as such but yes, several companies allow you to obtain the "raw data" from the sequencer. The raw data is what gets fed into the analysis software which produces relationship and heritage estimates.
  - inetknght 8y ago
    It's also worth noting that if the company sells analysis products to EU residents then GDPR may require those companies to make the raw data available to the customer anyway.
sonaltr 8y ago
same here. I really want to learn more about my past and also learn about my DNA (and all there is to learn with that data), but the invasion of privacy by such companies is just unacceptable (hence my refusal to take such tests).
_red 8y ago
The only reasonable way of achieving those goals would be to allow totally anonymous submissions. Mail in a sample and simply have a code that you keep to check on results once they are processed. The fact that none of these services allow for anonymous submission should be a huge tell about their real motivations.

devereaux 8y ago

Techniques used to read DNA only read short segments, from which larger segments are inferred. Not surprisingly, the results are not reliable. Feed the unreliable result into any classification algorithm, and you still get unreliably results (actually I was expecting worse) Not only that, but you only read small parts- SNPs. So there is no bijection; just a rough correspondence. On the bright side, it's good for privacy.

virusduck 8y ago
I think you underestimate the quality and power of short read sequencing. Most well-designed sequence-based genotyping assays take into account the length of the read and are easy to read out. (You are thinking of issues with copy number variation and perhaps assembly of longer genes, which do have issues). The sticky part is the analysis--how realiable are your databases and your algorithm for representing the mix of SNPs and INDELs as %European...that is the question.
klmr 8y ago
> Techniques used to read DNA only read short segments, from which larger segments are inferred. I think you’re describing short-read sequencing here but this isn’t what any of these services does. They do microarray genotyping rather than sequencing. And in neither case is there “inference”. True there’s something called imputation but it works quite differently and I don’t think (though I don’t know) that 23andme uses it for ancestry. I’m also not sure what you mean by “bijection” in this context.

derekdahmer 8y ago

Their results seem well within the margin of error I'd expect out of a $100 DNA sequencing service. It's incredible that this kind of thing is now available at this price point.

kitbrennan 8y ago

Misleading headline in my opinion... Carly's results have a larger 'Broadly European' percentage, but that is a catchall that includes: Italian, Eastern European, Balkan, French & German, Iberian (Others category), and Broadly Southern European (Others category). Therefore Carly's 'Broadly European' traits could be used to match Charlsie's results. It is unfair to call the 23andMe results 'different'. They are getting the same results, however one twin is getting more specificity.

badwolf 8y ago
Which could potentially even just be explained by something as "simple" as cohort testing to show more specific breakdown vs a more regional view
ssnistfajen 8y ago
Why do people assume ancestry results from these DNA tests are "accurate"? Human ethnicity is a continuum, not distinct pools of genes. We are applying labels conceived by modern nationalism to several thousands of years of migration and intermarriage. It would be great if people stopped treating ancestry results from these tests as authoritative reference. There was a controversy about Korean & Japanese ancestry results from 23andMe where ethnic Koreans are sometimes classified as >30% Japanese. These two groups shared common ancestors since ancient humans migrated via the Korean Peninsula to the Japanese archipelago centuries before the modern nations of Korea and Japan came into existence. Slapping either one of these specific labels on shared ancestry is wildly inaccurate and short sighted.
- aeneasmackenzie 8y ago
  Clumps appear in a principal component analysis, people just want to know how they look on one of those.
- acdha 8y ago
  > Why do people assume ancestry results from these DNA tests are "accurate"? Years of highly visible advertising by these companies which implies they're accurate? All of those “discovery your ancestry” posters they put up around here had specific countries and locations.

virusduck 8y ago

99.6% is still awfully dissimilar, depending on what that number means. Thinking about single polymorphisms, of ca. 3 billion bases, that is still 120,000,000 SNPs between twins. Of course, they aren't doing full genome sequencing, and they are probably targeting loci that are know to be more divergent. Still... that similarity seems awfully low for twins. I wonder what they typically find for similarity between any two individuals. I also wonder if their lab is a little disorganized....

klmr 8y ago
Current estimates are that there’s a roughly 1 in 1000 difference between two individuals purely due to random mutations in the germline (or, put differently, the DNA replication error rate in human cells is about 1 in 1000). This would imply 99.9% expected similarity between two identical twins. However, this is in the germline. Somatic cells accumulate mutations over their life time (since they, too, divide and therefore need to replicate their DNA, and are furthermore exposed to environmental stress). In addition, the tests work off saliva samples which are mixed with all kinds of stuff in the mouth, and degrade slightly during transport. Lastly, there’s an inherent replication variability in the genotyping process (though this is very small). This back of the envelope estimate suggests that 99.6% similarity for somatic samples of identical twins is not unexpected.
- opportune 8y ago
  Something tells me that the 1/1000 error rate you cite isn't truly accurate, or at least doesn't apply to all portions of DNA equally, because in almost every individual that would result in many SNPs with bad consequences since we have so many subsequences coding essential proteins
- adenadel 8y ago
  This is not accurate. Coarsely, there are roughly 3 million SNPs (out of 3 billion total haploid bases) per individual. When we talk about individuals "sharing" DNA we mean these variants and not the 99.X% of DNA that we all have in common. When we refer to random mutations in the germline (i.e. de novo variants) current estimates of de novo variants per individual are in the low hundreds. The other factors you discuss are more likely to cause issues. One major one is the error rate of the microarray because of the high number of genotypes being assayed. If the chip has an error rate of 0.1% and 500k tests are performed you would expect 500 mis-calls. I used to work for Illumina, who makes these chips, but I worked on the DNA sequencing side of things so I don't know the actual error rate off the top of my head.

dekhn 8y ago

I would expect this level of variance in tests given the original twin genomes are not identical.

Balgair 8y ago

Semi-related: I was thinking about getting one of the newer iWatches, the one with the heart-rate monitoring and all that jazz. To me, those features are really cool and future-y. So, I waltz on down to the store and try one on. It reads my heart-rate and it seems to be fairly accurate. Ok, well, let's test it a bit. I start running in place. The heart rate goes up. I then just stand there, after a bit, the heart-rate goes down. Nice, the thing actually works! Well, they had a few of the iWatches sitting there, without anyone else taking a poke at them. So, I strap all the free ones on the arm. Well, they all gave different readings. I repeated the running in place test. Some went up and down much more than the others; maybe 10 bpm more. I tried re-arranging them on my arm and doing the running in place test again, you know, maybe it only works on the wrist since the blood is closer to the surface there? Nope, the readings were all over the place still. It was not super scientific of me. I mean, I was some strange person running in place in a store with a bunch of iWatches strapped to my arm. Maybe the watches have some sort of learning algo in them that was getting messed up with all the folks trying them on. Maybe I was wearing them 'wrong'. Maybe I should have waited 10 minutes between jogging sessions. I don't know. But, to me, these things have a long way to go. A lot of the bio-tech and bioengineering out there seems to be a bit of snake-oil right now. I really do want it all to work, I think that would be a great boon to us all [0]. If something like the iWatch can't give repeatable readings in nearly any way, then it's all just a gimmick and not useful. [0] I mean, can you imagine if Theranos' tech actually did work?! That would change medicine for the better in incalculable ways. I can see why that company's plan was so intoxicating.

falcrist 8y ago
That's surprising, since the heart rate monitors on many phones are quite accurate. Many will actually give an ECG-like trace indicating brief changes in blood pressure. I don't see any good reason they shouldn't be extremely accurate.
- pc86 8y ago
  Well unless you're wearing a cuff you're not getting any blood pressure readings on your phone, and any "ECG-like trace" is a doodle at best as there's no electrical monitoring. Even chest straps that measure electrical output don't give you an ECG display.

paulcole 8y ago

These DNA kits are like astrology for people who think they're too smart for astrology.

phkahler 8y ago

What are the chances that these two people are not identical twins? i.e. fraternal. That could explain the differences in results from the same company. But they should also be quite trivially declared siblings in that case.

gwern 8y ago
Mistaken zygosity is quite rare, in the single percent range, after doing some tests like blood groups or hair whorls. In this case, the DNA overlap is vastly higher than would be expected for siblings: > According to the raw data from 23andMe, 99.6 per cent of those parts were the same, which is why Gerstein and his team were so confused by the results. They concluded the raw data used by the other four companies was also statistically identical. If they were siblings, ~50% of the (several hundred thousand) SNP calls would be the same, not 99.6%. (Which is about what you would expect from identical twins, since that's where either one disagrees with the other, and errors usually don't strike twice, so a 99.6% overlap roughly implies a per-SNP accuracy rate of sqrt(0.996) = 99.8%, which sounds reasonable given the difficulty of sequencing and the inherent noise & randomness.) On a fun side note, identical twins are not exactly 100% genetically identical, which is how rapist/murderer identical twins are being convicted these days based on DNA evidence; but there are so few unique mutations to each twin, and the new mutations wouldn't be on the common-SNP tests, that you have to do the equivalent of like 4 whole-genome sequences (IIRC, you need coverage of ~120x vs the more usual WGS of 30x) to get enough evidence to override the prior of any difference being just a repeated sequencing error, and it's very expensive.

stcredzero 8y ago

DNA in Europe is all mixed up. A lot of this is due to the Romans. There were also a lot of other migrations and displacements. I was watching a BBC documentary about how Rome influenced the history of Scotland. The announcer, who has a very pronounced Scottish accent, took a DNA ancestry test. The results (IIRC) indicated Germany, Italy, and eastern europe. (The announcer interpreted this last one as Dacia) Come to think of it, he doesn't look so different from Metatron. The twin results not matching is kinda disturbing, though.

jmull 8y ago

> ...suspects it has to do with the algorithms each company uses... switch (rand() % 100) {...}

socrates1998 8y ago

This is a great reason why I won't get this test done. The math is bad and (genetically identical) twins getting different results shows how bad the science is right now. This reminds me of when economics try to predict what the GDP will be next year. It's almost always wrong, so why would ever listen to anyone who is always wrong? It's mostly a scam, in my opinion.

devereaux 8y ago
Actually, the results are not so bad. The technique is rough, but even some basic MDS (multi dimensional scaling) on DNA gives things that look like the actual maps, so there is some scientific base. Also, you should not underestimate how not knowing where you ancestors came from is disturbing for many people. EDIT: for those who disagree, check what just the 1st two PC can give for European DNA after a simple rotation of the axis to match a map : http://blogs.discovermagazine.com/gnxp/files/genmap1.jpg http://blogs.discovermagazine.com/gnxp/files/genmap1.jpg I think it's fair to say there is a scientific base.
- ralusek 8y ago
  Why should that be disturbing to some people? I think the vast majority of people, at least in America, have no idea where their ancestors came from. Is the usual "I'm part Irish part German part Cherokee" meaningfully more satisfying than "I'm west African?" I don't think it's a good thing for people to attempt to derive any aspect of their identity from their genealogical ancestry, it has no bearing on who you are as a person, and has the potential for great harm. I've seen it used to give people a false sense of culture and belonging to a community that they previously had nothing to do with. If you felt a connection to a particular culture or identity, should we really be telling people that their genome is responsible for determining whether or not they can associate parts of those cultures with themselves? Racism results from a failure to separate identity from genome. If you listen to the dogma of a white supremacist, it's heavily predicated on associating the accomplishments of their "European" forefathers with themselves. If you listen to the dogma of a black supremacist, it's heavily predicated on assuming the identity of the Egyptians or Israelites and associating their accomplishments with themselves. I really think that if an individual is truly "disturbed" by not knowing the precise nature of their lineage, that is an individual in search of an identity on a plate, and therefore highly corruptible. The motivation to learn more about one's ancestry should ideally not surpass the level of an intellectual curiosity.

EnFinlay 8y ago

I can't get past the sub headline: > Twins' DNA 'shockingly similar' Identical twins are supposed to have identical DNA, right? Or did I really misunderstand a lot of school.

ralusek 8y ago
No amount of schooling could have truly prepared you for precisely how similar twins' DNA would be. Shockingly similar.
Tor3 8y ago
As I understood it he expected the different results were due to contamination or other errors resulting in compromizing the raw data to some degree. The shocking part was that the raw data was ok while the results weren't ok to the same degree.

faitswulff 8y ago

Not surprised. Some consumer DNA testing companies can't even tell when the DNA submitted isn't human: https://www.nbcchicago.com/investigations/home-dna-kits-481292431.html https://www.nbcchicago.com/investigations/home-dna-kits-4812...

macinjosh 8y ago
Haha, very interesting. I've always wondered what would happen if I sent in a sample from my dog.

mberning 8y ago

The results are crap, but at least the national security apparatus has your DNA to use against you in the future.

selimthegrim 8y ago
They swab your cheek if you’re detained at a protest on federal property, why would they need this?

crb002 8y ago

Mitochondrial DNA chimeras?

inetknght 8y ago

Disclaimer: I currently work for a genetics genealogy company mentioned in this article. My comments are my own. Some relevant previous comment threads of mine about other DNA related articles: [0], [1], [2], [3] Personally, I would love to help create legislation aimed to protect consumers from perceived and actual problems related to DNA sequencing and analysis. I don't know how though and I fear it'd fall to the back burner in the current US political climate. Our customers are not only US but international though and that presents yet another dimension to the challenges therein. This article states: > Whatever your ancestry results, don't get too attached to them. They could change. That is absolutely correct. I've stated why in a previous comment [1]; Some DNA analysis software employ stochastic algorithms. That means that the answer they provide can be different if run more than once. The article also states: > Despite the popularity of ancestry testing, there is absolutely no government or professional oversight of the industry to ensure the validity of the results. That is also correct. I've heard peers state that the industry isn't regulated outside of the field of medicine during product discussions. I think that's something which needs to be addressed: leaving it unaddressed can encourage predatory business behavior. [0] https://news.ycombinator.com/item?id=18196717 https://news.ycombinator.com/item?id=18196717 [1] https://news.ycombinator.com/item?id=18196984 https://news.ycombinator.com/item?id=18196984 [2] https://news.ycombinator.com/item?id=18564380 https://news.ycombinator.com/item?id=18564380 [3] https://news.ycombinator.com/item?id=18569659 https://news.ycombinator.com/item?id=18569659

buboard 8y ago
> there is absolutely no government or professional oversight They are not allowed to sell health-related reports anymore in all of europe and other countries. While i think that some regulation and standards would be good, banning it overall was a dumb measure.
- inetknght 8y ago
  Can you quote a specific law for that?
  - klmr 8y ago

chillingeffect 8y ago

I wonder why they didn't mention male microchimerism, a still poorly understand phenomenon, in which male DNA is found in females. Possible sources of gene transfer are " unrecognized spontaneous abortion, vanished male twin, an older brother transferred by the maternal circulation, or sexual intercourse" https://www.ncbi.nlm.nih.gov/pubmed/16084184/ https://www.ncbi.nlm.nih.gov/pubmed/16084184/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458919/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458919/

AngeloAnolin 8y ago

From the article (and the company themselves): "The company said it approaches the development of its tools and reports with scientific rigour, but admits its results are "statistical estimates." It is very likely that there's a fine print on their procedure that everything is a Guesstimate and while their algorithms will process things the same for every sample, there's just too much variations that are unaccounted for even in such controlled environments. What would surprise me for example is if someone sent in their DNA for analysis twice on the same company and get varying results. That would mean that the process itself is not well-established.

truantbuick 8y ago

None of the differences, either split by company or by twin seem egregious or even particularly unsatisfactory. They cite that AncestryDNA measured each of their DNA to be 99.6% similar, and really, that seems like the error rate you would about expect for the Ancestry results they got. They got the exact same regions and only a percentage point or two off in each region's share. It's not like they're fully sequencing every DNA sample they get. > AncestryDNA found the twins have predominantly Eastern European ancestry (38 per cent for Carly and 39 per cent for Charlsie). But the results from MyHeritage trace the majority of their ancestry to the Balkans (60.6 per cent for Carly and 60.7 per cent for Charlsie). This part of the article especially seems like hair splitting considering the Balkans and Eastern Europe tend to have a lot of overlap. In fact, "Balkans" in particular is an extremely ambiguous linguistic term and can mean so many different things to so many people.

mattnewport 8y ago
What's unsatisfactory is the way these companies present these results which implies a level of accuracy and precision which is unwarranted. "She also has French and German ancestry (2.6 per cent) that her sister doesn't share." I assume from this that 23andMe is reporting the results to this level of accuracy (a tenth of a percent). For the sister who got 2.6% they are strongly implying a certainty that she has a small amount of French and German ancestry rather than what actually seems to be the case which is a small chance of some French and German ancestry. Since it seems their results are quite lacking in both precision and accuracy they should do a better job of reporting them and advertising them in a way that makes that clear.
- truantbuick 8y ago
  I can only speak for myself, but when I got one of these tests 6 years ago, I never got such an impression. They've updated my results several times since and I never feel hoodwinked as if I had been previously deceived; I'm always just curious to see what the latest estimates are. > I assume from this that 23andMe is reporting the results to this level of accuracy (a tenth of a percent). For the sister who got 2.6% they are strongly implying a certainty that she has a small amount of French and German ancestry rather than what actually seems to be the case which is a small chance of some French and German ancestry. You picked out the single biggest discrepancy they report in this article, and yet even that doesn't seem to indicate an actual inconsistency to me. I would tend to interpret those results to mean that for one twin, they felt sufficiently confident to call a portion of their DNA "French and German", while in the other it fell below that confidence threshold so it got thrown into the "Broadly European" share. This process already pretty much precludes objective perfection just based on what they're reporting. What does it mean for your ancestry to come 2.6% come from France? During what time period? What if it's on the border in one of those regions that switched hands several times? These are subjective decisions they have to make but it doesn't invalidate the whole test because occasionally you have enough evidence to call portion of your DNA "French and German" and sometimes you have to fallback to just calling it "Broadly European".

aj7 8y ago

OK now you can see the S/N ratio.

kbody 8y ago

It makes sense, what I was wondering though was about the difference if any of the raw DNA (SNP) data they provide.

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nanomonkey 8y ago

I'd like to get this done for myself and my parents (to distinguish where the different traits actually come from), but I'm a little wary of putting this sort of information out there when we don't know how it will be used in the future. And by whom. Are there services that you can pay extra that will do a full DNA sequence and have access to 23andMe's comparison data? Or am I being paranoid?

jlarocco 8y ago

TFA seems to be making a mountain out of a molehill to be sensationalist. I don't think anybody's ever claimed this type of mail in test is 100% accurate, and most of the results were within a couple percentage points of each other.

VLM 8y ago

Translating into IT / tech terms, people are VERY used to the concept of two .wav files sampled from the same CDrom being bit identical and useful in a court of law to prove both .wav files came from exactly the same music cd. However people are really worked up about a new online service that encodes multiple analog music sources into lossy mp3 samples using different analog encoders each time, and the service sells an "identify matches similar to this song" as a service that people think is the same level of exactness as the old fashioned court-of-law .wav file bit by bit comparisons, but its actually more of a lossy best guess pattern matching service instead. Yes they DO use the same general technology, mostly, but its quite different in purpose and outcome. An even better analogy is we are VERY used to an online service that OCRs a scan of a music CD and outputs the musician name every time based on OCR of the disc itself, and now people familiar with that technology are VERY confused by an app that listens to your cell phone mic and often squirts out the musician name based on that raw analog sound sample. Its more a miracle the new tech works at all, than a scandal that both business models aren't identical in accuracy.

ekianjo 8y ago

> According to the raw data from 23andMe, 99.6 per cent of those parts were the same 99.6% is hardly an impressive figure. I would expect 99.9999% between twins at least. Chimpanzees and humans already share about 96% of genes. https://news.nationalgeographic.com/news/2005/08/chimps-humans-96-percent-the-same-gene-study-finds/ https://news.nationalgeographic.com/news/2005/08/chimps-huma...

ekianjo 8y ago

I don't know if any company provides that, but I would like to have access to my raw data (I guess, several Gbs worth or DNA pairs information) and use a different 3rd party of my choice for the analysis. (This way there would be a lot more competition for various ways to look at data).

Dunedan 8y ago

I'm wondering what would happen if you'd send a GDPR request for deletion of personal data to such a DNA sequencing company. While you might not have sent them any of your DNA, relatives of you might have sent them theirs. Since DNA material can also be used to infer characteristics from close relatives, would DNA material of close relatives be considered personal data falling under the rules of GDPR?

drallison 8y ago

They really should have done the obvious quality control test: each of the twins should have done each DNA test several times, at least twice. Most comments seem to assume that the test samples were uncontaminated and that the sequencing was correct. Redundancy will help identify the source of the differences.

Improvotter 8y ago

I got a question to all of the Americans here. Why do you all care so much where you come from? Why are these services so popular? I honestly am not interested in my origins. Perhaps because I'm from Europe?

husamia 8y ago

The twins DNA is "nearly exactly" the same is an oxymoron. Nearly is not an exact. The twins have "virtually identical" ancestry profiles yet, their profiles are "shockingly similar" They are comparing a low resolution map the genome. The genome is 3+ billion nucleotides, only 700,000 (0.0002%) is being compared to find 0.04% difference! that is shockingly similar!

deleted 8y ago

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slowm5 8y ago

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