"*Requires a recurring Personal Genome Service subscription at $5/month.
1 year contract required. Order for $499 with no subscription commitment."
So it's really $159, with another $60 paid every subsequent year as long as you want access to the data (and any new things which they might provide). If you're expecting to subscribe for longer than the next 80 months (six years and eight months), then it might be better to get the normal $499 version. Although, on the page about what the PGS subscription gives you, it mentions discounts on future things, like moving from genotyping to full sequencing, so perhaps it would be worth it. Not quite enough information to say, really.
That said, I'm all for lowering the barriers to people knowing about their DNA, and $5 a month is pretty small compared to many other things (phone contracts, for instance, or getting coffee every morning).
At the speed at which prices are falling in that industry, that subscription will probably get cheaper or go away with time, so it might be a better deal than it looks if you only extrapolate costs linearly.
For those concerned about privacy, it's buried on their How It Works page. I'd strongly suggest to the company that such info might be worth placing on the front page.
According to the site, the Genetics Information Nondiscrimination Act covers the data provided and ensures you can't be discriminated against in employment or health insurance matters. Though I don't know anything about the GINA beyond the information they provide, this seems to leave out issues of end of life care (IE, can a family member use legal discovery mechanisms to get at info about potential up-coming medical problems in later life as a means to halt usage of a ventilator should you become comatose?) and probably some other things.
GINA could be repealed. It was legal for gay couples to marry once and now it isn't. (at state level here in CA, admittedly - but laws can be repealed at any level)
Given that the health and the insurance industries have some of the most powerful lobby groups around, I'd be concerned that GINA isn't a guaranteed law for the rest of the life of this data.
If I do this (I'm considering it) then I would do it as John Doe with my PO Box, freshly created email address, etc. Getting kinda OT but there is a similar chain of thought when you get STD/HIV testing that you should do it as a John Doe for similar reasons.
A user on the Fatwallet.com forum pointed out that there is a way to pay up front:
"When checking out, choose the 'Add a gift' option to your cart also, then remove the original non-gift order - the gift option includes the 12 x $5 annual subscription, giving you the exact $159 option that you're looking for."
http://www.fatwallet.com/forums/hot-deals/1046972/
This includes a prepaid Fedex envelope to return the sample though, so it amounts to €23 each way which isn't that unusual. Last time this offer was on (without the $5/month recurring payment mind), I noticed on Ebay a while later that some smarts were selling the kits $300. The $5 puts me off doing that though. I wonder if they'd sell as easily.
If you order more than one, you even get an enveloppe for every kit to send them back seperatly. You get another free kit if they can't read your sample. The shipment fee doesn't increase with the number of kits you order.
Not only the cost. They don't ship to some countries (e.g. Russia), though they do not object if I order it to an address in a supported country and have it delivered from there myself. I doubt they will get a lot of clients this way, though.
I assume there are some legal barriers in place. I would like to know what are they, but haven't had the time to investigate myself.
Howdy, bhickey. I of course remain concerned about the following:
(1) On a population scale, common variants of modest effect are the most informative. These same variants are genotyped by 23andme.
However;
(2) On an individual basis, rare variants of large effect are the most important. By and large, 23andme does not ascertain these.
So people are missing many variants that are important to them individually; also, the interpretation of most known variants is by inference or prediction, not experimentation.
Let's not forget that, at this point, clinical risk factors still outperform genetic risk factors. Adding genetics to your clinical predictors, for most diseases, does virtually nothing for you. And why should it? Clinically, we can detect that you have high LDL. The fact that your genetics also predicts high LDL is irrelevant unless it can offer qualitatively different information. Risk prediction for the non-prenatal realm is not a particularly interesting use of genetics. For discovery of therapeutic targets, on the other hand, this is golden.
Genetics is still hard. Personalized genomics, much harder still. I'm not opposed to people getting access to their own genetic information, but I support very cautious interpretation. In medicine, each test has a risk: not only the risk of the test itself (e.g., radiation or bleeding), but also the risk of triggering follow-up procedures.
Weird request. I really wanted to do this for the longest time, but waited hoping that the price will one day go down. This is exactly in my budget range, but I don't get paid (and have to deposit to my online usage only bank account) till the first week of December. Can any nice guy trust a fellow HN-er till the first week of December?
I am also on reddit with the same username. Let me know if anyone can help, my email is pavs.ma (@gmail).
Thanks! I just sent you an email looks like I can't do it from NY.
If anyone has any ideas what I can do, here is the email I sent him:
-----------------
Hey Christian,
Thanks for the email and willing to do this for me. I just checked to see if I can pay with paypal, it only gives option to pay by card. If I get money on paypal then I will have to transfer it to my bank account and the process takes about 4-5 days (last time I tried it) by then the deal, which is valid till the 29th, will expire.
To make things worse, in the process of doing the checkout I was informed that they have a legal issue for shipping spit samples to NY. :( http://i.imgur.com/hYgzw.png
I might be out of luck for now. But thanks for the offer. I really appreciate it!
I'd love to do the test to learn about my genetic heritage, but I'm far too afraid of what it might say about disease risk.
Suppose it comes back with a genetic marker for something like Parkinson's. What do you do with that knowledge? You can't just cut down on cholesterol or exercise more - if it's coming, it's coming. All you'd do is spend the rest of your life with a terrible foreboding you can never escape.
First off, it can't tell for certain - just that you have a high percentage chance of getting Parkinsons.
Now with that information, you might decide to live more of your life now... You might decide to have children earlier knowing that you will see the grow up before you enter the risky phase in your life when you could develop the condition.
Like Sergey Brin is now doing, you might pay close attention to the research of the condition - perhaps even donating more.
Does 23andme allow users to get their data out? I.e., get them in some raw format that one could use to correlate with other studies you might find, or put them into some other service?
The above SNPedia link goes into greater detail, but the data come as a tab-separated file a few megabytes in size. For the older Illumina reports, the data files were about 5MB, but the newer chips may make files closer to 10MB. (550k vs 1m SNPs, respectively)
"You'll earn upgrades as we move from genotyping to full sequencing" -- so AFAIK, right now 23andme are comparing your DNA data to the one of the human genome project and providing you with the percentage of how many people from genome project, having similar DNA sequences, had one disease or another. I wonder, once the sequencing advances, will the info provided by 23andme be detailed enough so to take the full advantage of the new methodologies of sequencing? In other words - will the science of genetics improve only in the interpretation of the DNA data, or in collecting more detailed DNA data as well?
Not if you're planning to have kids and want to see if you have any recessive mutations to look out for, like CF or Tay-Sacs.
They also trace your mitochondrial DNA and Y chromosome so you can see where your maternal and paternal lines originated, if you're interested in that sort of thing.
The part you're referring to is probably the disease risk section, where they show you your comparative risk of various diseases compared to the population. This is simply a better resolution version of your family history of disease, which a doctor will ask you if you ever go to one. Are doctors fortune tellers?
To really understand the output of 23andme will take a lot more study and I think that if you're going to let it influence your life's decisions at that level that you should be prepared to spend a substantial amount over and beyond the initial fee here to have the results interpreted by a professional that is able to put them in to the proper perspective.
23andme is expensive infotainment without the required education in both the genetic and the mathematical/statistical background.
I couldn't disagree more. Knowing more about your body is always a good thing -- the fact that many people won't know what to do with that information is inconsequential. It may not make sense for many (most) people to buy into 23andMe, there are a lot of people out there that can understand this, or at least find it interesting to be able to peer into their genetic makeup.
Surely if the average person is told "There's an X chance you'll die. There's a Y chance you'll lose a leg. There's a Z chance you'll be blown up", they'll worry unduly no matter what X,Y,Z are.
I can see what you're saying, that if you're a qualified doctor, or have studied medicine for years, then 23andme could be useful, but for everyone else, I think it could be very dangerous.
Surely those things can be tested for properly by a doctor if you're planning kids and believe you may be high risk.
I don't know how things are in the US (I know health care is 'interesting' over there), but one of the jobs of a doctor is to take information and interpret those results for the patient. That's why they spend years training.
Giving patients access to tests directly doesn't seem a good idea at all to me. It's like showing a windows user a stack trace when a program crashes. Most of them won't have any clue how to interpret that stack trace, they'll probably get over-worried their computer is broken or has a virus, etc etc.
People who fork out money for genetic tests like these aren't windows users. I'm a linux user. I also have undergraduate and graduate degrees in biology, and my SO who also got the test done (and with whom I'm planning to have kids with) makes phylogenies for a living. We're perfectly capable of interpreting this information.
Doctors are a fine filter for stupid people, but it they can be infuriating for people like us. My mother is a biochemical engineer, and when she was pregnant with me she was so frustrated by the doctor's dissembling over her amnio, she grabbed the test results out of his hands and read them for herself.
I'm regularly frustrated with the lack of doctors' honesty. I don't need one to decide what I do and do not need to know about myself. I think we not only do we need more direct-to-consumer medical testing, I think we should have better access to our own medical information.
You would be right if the 23andme tests were accurate, but they really aren't. They only test for the most common mutations for certain genes so they don't replace going to see a clinical geneticist. Also, the vast majority of conditions you could have aren't even tested for at all. A lot of these are the kinds of things where there is only a 1 in 40,000 chance of you having it, but there are so many of them that your chances of having one of those conditions is actually pretty high. But yeah, doctors are terrible at diagnosing chronic illnesses so you really want to figure out what you have on your own and then just go to someone to order the tests for you. But 23andme wouldn't be useful for this unless you get really 'lucky' and have one of the 200 or so things they test for.
Your point on doctors is well taken - I myself hold 2 degrees, one in genetics and a second in computer science. I run whole genome sequencing analysis as part of my job and am acutely aware of the kind of knowledge required to properly interpret these kinds of results. When you consider that many MDs simply have 2 years of college's worth of molecular biology training - well it puts genetics knowledge into perspective.
The future will be here when we can easily grow new organs, and easily target and switch off cancer cells in case those organs become cancerous.
Most of the stuff listed on the 23andme site is just looking at slight correlations and assuming causation. (Though there are some major correlations that strongly suggest causation.)
Yeah, but the "stuff" on 23andme is the result of years of human genome research. The fact that we can now examine our genetic makeup is a large scientific step forward.
The interpretation performed by 23andMe may be suspect[1], but for the bioinformatics geeks among us the raw data[2] they provide may be useful. I know I'm planning to script a targeted literature scraper that makes use of my SNP data.
It can be if you want it to be or it can simply be an early adoption of a service that will likely be far more meaningful in the future.
I like it b/c it is helping me learn about genome research in an interesting way, and it's preparing me to be ready to digest the results of a full genome, another few decades of research, etc.
Mygene offers reports for budding athletes to understand their gene structure better and provides guidance on tuning your training to fit with your genetic findings.
Disclaimer - my company did entire IT and lab automation work including implementing report creation algorithms.
Regardless of how your genome sequence is read (by genotyping or sequencing), there's the potential for gene patents to be filed based on associations that are discovered between certain genetic variants (e.g. SNPs, which are the variants typically read during the genotyping process) and traits of interest, such as diseases. The big question is whether the USPTO will continue to grant such patents--the ACLU is challenging this premise now in a case against Myriad Genetics, http://www.aclu.org/free-speech-womens-rights/aclu-challenge....
It's probably worth getting if you're a woman or have a known family history of a genetic disease. 10% of women end up getting breast cancer, and this is sometimes due to a BRCA1/BRCA2 gene mutation. You can take preventative steps if you know this.
It's probably worth getting if you're a MAN or have a known family history of a genetic disease.
Prostate cancer is out there. Quit smoking, eating Red 40 food coloring, and remember...we're here to put a dent in the universe with the time we have!
This is genotyping, not sequencing. You're not going to pick up on rare but highly penetrant BRCA mutations. In other words, you may miss important variants that aren't detected by 23andme.
Basically it tells you whether you have the most common mutations of the breast cancer gene and the Parkinson's gene, each of which means an 80% chance of getting that disease. It also tells you whether you have the most common mutations of the diabetes gene, which means that your risk of getting diabetes goes from 20% to 30%. Beyond that everything else just tells you that your risk of some obscure disease has gone from .1% to .15% or from .1% to .08%. So if you find out that you have one of the big three things they test for then there are things you would want to start doing to reduce your chances of actually getting those diseases, but if you've already been tested for those things then it's just for entertainment.
In general though the tests are much less accurate than the ones you would get from a doctor because they only do a couple of the most common mutations, so if you want to use your DNA for making health decisions then you still need to make an appointment with a clinical geneticist who specializes in whatever you think you might have or be at risk for. (E.g. breast cancer, metabolic deficiencies, etc.)
So it's really $159, with another $60 paid every subsequent year as long as you want access to the data (and any new things which they might provide). If you're expecting to subscribe for longer than the next 80 months (six years and eight months), then it might be better to get the normal $499 version. Although, on the page about what the PGS subscription gives you, it mentions discounts on future things, like moving from genotyping to full sequencing, so perhaps it would be worth it. Not quite enough information to say, really.
That said, I'm all for lowering the barriers to people knowing about their DNA, and $5 a month is pretty small compared to many other things (phone contracts, for instance, or getting coffee every morning).