FDA Authorizes Ten 23andme Genetic Health Risk Reports
blog.23andme.com
blog.23andme.com
I guess these are different reports, but I know a genetic counsellor who describes 23andMe's carrier screening tests as "the bane of their existence". Those reports seem not-so-easy to understand based on the patients she sees.
One problem is that they warn that your offspring are at high risk for some condition, when really "high risk" means 0.5% higher risk than the general population. The other is that they may say you are not a carrier for a certain condition, when they only test for one variant of it, where proper tests will test for multiple variants. They can both scare and soothe irresponsibly.
It never clicked for me that this was going to be the most scientifically accurate reading of my health in all the world. I took part because it could give me some scaring and soothing. But I assumed I'd go get a real test done if I was actually worried or interested about something specifically.
The website repeats this sentiment over and over, I learned about all kinds of interesting genetic stuff. I'm sure that's what it's for. I shouldn't be surprised that many people take what it says as gospel.
Yes, and? I don't see the significance of the testing medium here. DNA sequencing from hair or blood or saliva will yield identical results.
And there's much more to be found. The service of 23andme only records a limited set of SNPs. Further there is "multiomics" (see [1]), where not just the genome is sequenced but a complete biological fingerprint of metabolites is taken at different timepoints. This can e.g. give insight in onset of a disease even before any symptoms present themselves. I wonder when this will become available as a (mainstream) service, but I guess soon.
Sounds like they are keeping her in business.
As I understand, genetic counselling in the case of HD is people telling you over and over again not to get tested. One of the constraints on fertility treatment if you're at risk is that you can't have any procedure that removes the potential baby's right to choose whether or not to be screened.
But in summary:
I've decided (having thought I definitely wanted to know) not to get tested. I'm glad there wasn't a button on 23andMe I could just click to find out. It's a complicated decision, should require some thought, and has life-changing consequences. While I'm strongly pro-choice, I also don't think 7-11 should be selling abortifacient drugs -- just because technology can make some decisions easy to execute on, doesn't mean they should be as easy as clicking a button.
Hopefully at the very least even without testing to go from 50% to sure knowledge, that 50% number is enough to get people to create wills/trusts. Save your survivors a lot of trouble with just a little up-front time and cost.
I plan my life expecting to live to an average age, as I assume most of us do. I save for retirement, I make investments that will pay off at times useful to me.
If I knew I had a serious condition that changes my quality of life and life expectancy, that means I need to change my life plans. Sure, it may not be 100%, but working off the most likely outcome seems sensible.
Not to mention, no treatments right now - if I know I've got something, I can follow developments and if treatment does become available, I can do something. Obviously, you could monitor this if you knew you were higher-risk anyway, without testing, but not everyone knows that.
https://www.youtube.com/watch?v=ji5_MqicxSo
Just because you're born knowing you're going to die doesn't mean we should all fret about it (unless you're a Nihlist of course, and then it doesn't matter as everything is futile). Knowing you're more likely to pass sooner would hopefully be a good thing in that you'd hopefully spend more time with your family creating memories than useless stuff like grinding at work and trying to climb corporate ladders only to become a senior middle manager in 20 years.
Personally, I would absolutely want to know to pivot my life towards reality. I'd much rather have an educated guess as to what my future might hold given the options vs sticking my head in the sand and "hopes and prayers" for the best. That being said, I can understand how it might simply be overwhelming for some people who wish to remain blissfully ignorant. Best of luck to them!
Yes, it's not easy decision but if you are not tested you can ruin life of your partner. It's better to prevent passing this terrible disease to your children.
Anyhow, 23andMe cannot tell you whether you have HD or not because they don't have sequences for that.
Can you explain that a little more?
I actually have the 23andme kit right here-- I plan to get the genome data to submit to some other services to see if there's ANYTHING I can learn about what's going on with my body.
My doctors have basically been watching me die.
I recently tried to research these companies to help a friend, and theres a huge amount of innuendo out there along with a lack of detailed and up to date information.
Even the companies seem to be in the dark. One example is I asked FTDNA to explain what the advantages might be to their autosomal only testing vs AncestryDNA's autosomal testing. A "senior" person there essentially said, we have no idea how they conduct autosomal tests so we can't help you.
Off the top of my head every company I can think of goes to great lengths to know the competition, in part to be able to explain their advantages to customers.
But not so for some of these DNA companies.
To be fair, AncestryDNA's web info was so marketing messaged I didn't even bother to ask them the question.
Do you really think a product can be built (for a reasonable price) which ensures that your genetic counselor does not get stupid questions from the consumers of the product?
That's like saying <My friend who works in tech support describes cheap computers as "bane of their existence">.
We leave genetic material behind everywhere we go. 23andme analyzes only a small subset of one's DNA.
The most important thing to realize about genetics is that very few health conditions (and even traits) are highly correlated with a specific genotype.
Some are, but the reason something like 23andme hasn't revolutionized health is because the correlations for most things are weak. 23andme does a good job of showing just how weak in the results. I'm 52% likely to have the eye color I have even though both parents have that color. I'm the tallest in my generation (in my family) yet my genes are mostly for below average height.
Over time, with a lot more data and a lot more correlation analysis with health and behavioral data, there will be more actionable information for the average customer.
As it stands, 23andme is useful for the following reasons:
- the data is entertaining. It's fun to find out how much neanderthal DNA one has, etc.
- the ancestry results are interesting.
- the health results make it clear just how little impact genetics has in most aspects of health. Yes there are some big exceptions, but those are a minuscule percentage.
By joining 23andme you get a chance to watch the studies unfold and plug in your own data. For a curious, patient person, this offers a great way to make an interesting area of science a bit more salient.
1. The AUC (predictive power)for most traits is currently very weak
2. The genetic privacy protection landscape is currently quite volatile
Taken together this puts the consumer in the situation of having data that is of middling utility for them personally, but is of great potential utility for the testing company and insurers. A small increase over the average population susceptibility for trait X is often non-actionable for you personally, but over several traits might be sufficient to shift you into a different insurance risk class. If you have privacy concerns and are interested in your risk profile for certain traits, look into whether a kit is available for those traits alone. You may wish to combine different kits from different providers to interrogate multiple regions (a more expensive strategy for the privacy-sensitive). There are a few companies that will put together a bespoke panel. At present, it may be prudent to take a hacker approach to genetic testing. https://isogg.org/wiki/List_of_DNA_testing_companies
> an argument for being a late-adopter
Definitely. I was an early adopter of 23andme, and there is value to 23andme's research arm when a customer fills out the surveys, but the utility is low and comes predominantly in the form of entertainment. I'm the most neanderthal of everyone in my family who has signed up, which is a mark of pride.
> A small increase over the average population susceptibility for trait X is often non-actionable for you personally, but over several traits might be sufficient to shift you into a different insurance risk class.
While this is quite true, and would be very worrisome, I think the basic properties of heredity make it unlikely that the dystopian outcome you describe will occur. Here's what I think is the logical argument:
We are all very genetically similar. There are thousands of 5th, 6th, 7th, and more distant cousins of mine on 23andme. Chances are most of the population descended from Europeans are < 10th cousins away from each other, etc. The degree I state could be wrong but the general idea is true.
Broad, ethnicity-based risks are already known/used by insurers... things like sickle-cell risk, diseases more common among Ashkenazi jews, etc.
While there are many health conditions that correlate with genetics, their presence is dominated by chance. Thus we all have similar incentive for adverse selection of insurance, and hence insurance companies have little to gain by fragmenting their risk pool on the basis of tests with low predictive value.
Moreover, since so many people reproduce and thus take on financial responsibility for the genes of their children (which are subject to both hereditary risk and mutation risk) chance becomes an even more dominant factor in risk, and amplifies the incentive to create the largest risk pool possible because the risks cannot be predicted with high levels of accuracy. There have already been extensive, large data set statistical analysis of full genomes for predictive information about the top 5 most costly diseases. If there was going to be a large, statistically significant find, we'd have already heard about it.
The other side of this coin is that even people whose genetic scan shows reduced risk for all of the expensive diseases will still get those diseases with enough frequency that segmenting the risk pool will not make financial sense for insurers.
The situation we had a few years ago with respect to expensive pre-existing conditions was actually far worse. Type 1 diabetes is weakly hereditary and is dominated by chance. If you get type 1 diabetes you're looking at a few hundred dollars per month of cost for test strips, insulin, etc., to the point where for a middle class or lower middle class person, the disease can be financially crippling. Most people would prefer that the risk of randomly occurring, expensive diseases be spread among everyone, so that we'd all pay $1 more so that the person who gets unlucky and has type 1 diabetes gets the strips for free.
Yet in spite of this, even with acknowledgement of pre-existing conditions, the scenario remains. The insurance/healthcare industry has not managed to create the proper financial incentives that would insulate someone who drew the short straw and got type 1 diabetes from financial hardship (via pure insurance)... while it has failed to create any financial disincentive for adopting many behaviors that are nearly guaranteed to increase healthcare costs.
So I have hope that a better (broader, more public) understanding of genetic risk, random chance, and behavioral risk will help the insurance industry deliver products that allow all of us to save money based on things we can control, and not to be penalized for things we cannot control.
Neither of the extreme ideas (that there is strong genetic determinism for disease and healthcare cost or that there is zero behavioral/environmental impact) are true.
Also, fwiw, I don't think any of us would tolerate living in a society where people had to consider the genetic scan of a potential mate before deciding whether a relationship made sense financially. I realize this is the case today in some minority populations who have had (for historical reasons) lots of in-breeding) but over time the impact of that will be reduced.
I think this would be an awesome amount of fun. I for one would be interested in looking for certain gene variants that are not mentioned at all over at 23andMe.
Lots of people say " I for one would be interested in looking for certain gene variants that are not mentioned at all over at 23andMe." but they either never do anything with the data, or they look into it and realize that SNP analysis of gene variants is still a charltan's game.
Fair warning: the UI is very geeky. I think any HN reader should be able to find their way around without trouble, but I wouldn't recommend it to my non-technical friends or family.
Also is prometheus and open source analyzer?
Prometheus is not open-source (I think), but all it does is read various files with DNA data (like the 23&me export), and match it up with the information in SNPedia (a Wikipedia-like open repository of what we know about certain SNPs), and then exports it to a pretty HTML/JS web report for you that you can download and save.
http://snpedia.com/index.php/Promethease/Desktop http://snpedia.com/index.php/Promethease/privacy
[1] https://www.statnews.com/feature/game-of-genomes/season-one/
[2] Supplementary materials to [1], https://zimmerome.gersteinlab.org/
About 98% of our DNA does just makes an ordinary human body with normal systems.
So we're only interested in the 2% that can vary.
Or whatever the actual numbers are.
So any diagnosic or risk predictive tests need only check those areas know to result in or increase the risk of pathology.
Many such errors cause non-viable embryos, but if you have survived up to this point, then such a difference is still quite likely to have a meaningful impact to your health and is precisely the part that you'd want to have scanned and verified.
For adult DNA scanning we're not really interested in all the genes vary between all people and code for the color of your eyes, the melanine content of your skin, the shape of your nose or your height - but we are very much interested in, for example, scanning your genes that encode CFTR protein to check if you (or your kids!) will have issues with cystic fibrosis.
It's possible that you don't really have (or your kids are likely to not have) an "ordinary human body with normal systems" - that's what you'd need to find out.
I think you said the same thing but in a clearer way.
However true, that is irrelevant to genetic diagnostics as they exist today. We have no idea how a random error might impact health aside from very limited known mutations that are sufficiently frequent in the population to enable statistical correlation. We are probably decades away from being able to say, for a random mutation, 'this will lead to a deficiency in the synthesis of protein A which impact the development or working of organ B'. We can't even agree on the proportion of junk DNA.
I recall seeing cases of rare genetic disorders that have been diagnosed that way, by online communities sharing data.
http://matt.might.net/articles/my-sons-killer/ is one story that counters "this will lead to a deficiency in the synthesis of protein A which impact the development or working of organ B". For many parts of DNA we do know what protein it makes. For many proteins/enzymes/etc we have some idea about their function in the body - and if we have a test subject missing that protein, then the symptoms will be even more indicative about this, even if the population is tiny (1 in this example!) and doesn't allow for any statistical inference.
This means that if we really want to, we can try to find out the likely effect and possible workaround of a particular mutation, even if we currently don't have a ready-made answer for it.
A SNP is a Single Nucleotide Polymorphism, ie places in the genome which vary from the reference human genome by change of one base pair. [1] https://www.snpedia.com/index.php/23andMe_v4_differences
However, sequencing your entire genome is generally not available commercially. If you can find it, expect to pay at least a few thousand dollars for the raw data, and that's just sequencing reads that will need a lot of work to get to anything like a genome. Your best bet might be to try to join a genome sequencing research study and pre-agree to have access to your own data.
I couldn't find any format that was neutral between vendors, so I wrote something (dna2json) that converts these vendor specific ones into a flat JSON file you can query easily.
The goal is to have a dataset of free and open genomic data so that scientists can analyze freely and avoid commercial silos of data.
They will sequence your entire genome for free, subject to a backlog caused by funding shortages.
I think you can pay $1,000 to jump to the head of the line. You may also be able to jump to head of the line if you meet certain "interesting" criteria, like willing to have multiple folks in your family get sequenced. Haven't looked into this in a while, so you'll need to check and verify this paragraph.
Provided you could purify your DNA, sequencing wouldn't be an issue - just send it off to someone like BGI (Beijing Genomics Institute) and download the seq files when they're done. Purified DNA is stable and inert, so no special conditions required for posting it.
Sequence files are just text (if they're in FASTQ format), and all the common tools are open-source. No doubt someone somewhere has put together a Docker image with software for the entire workflow (FASTQ file processing --> read alignment --> variant calling), so processing isn't a big issue. As there's no de novo genome assembly or anything like that, the whole thing can be done on a run-of-the-mill PC, and would take a few days, depending on the depth of sequencing.
My guess is cost would be approaching US$1000 now.
And...
"Unless you choose to store your sample with 23andMe (called consent to "bio-banking", which can be found here and changed in your settings), your saliva samples and DNA are destroyed after the laboratory completes its work, unless the laboratory's legal and regulatory requirements require it to maintain physical samples."
I could be wrong but in a lot of cases in the US, labs are required to hold data for at least 2 years
[0] "23andMe says that it is also able to share anonymous and pooled data about their self-reported health traits without asking." - https://www.forbes.com/sites/matthewherper/2015/01/06/surpri...
Unless they provide an anonymous way of consuming their product I would never. ever. EVER. give a for-profit company my genetic data (and it's debatable who owns that data because last time I checked lawmakers don't really give a shit about information ownership unless it's about Hollywood) and have them tie it to my name. Fuck that!
Might be important if you were planning on a life of crime, or if you owe someone child support. But for the moment there's no good way to use them to make money off you.
In the US, the protections against insurance companies using your genetic data against you are about as deeply entrenched as the protections against letting ISPs sell your internet history, and subject to much more intensive lobbying. Other countries have no protections at all - Canada's current bill is strongly opposed by the Trudeau government. Remember, even though most of these genetic risk scores are incredibly weak predictors, it is only necessary for insurers to believe they improve their actuarial models slightly to have a huge effect on differential insurance costs.
I'm very sad reading statements like this on hackernews.
Is that really an argument when it comes to privacy? Especially these days?
'crime' is a generic term which can change depending on who's in charge of the country.
That [...] could hide a lot of shady stuff being done via NSLs (etc.).
EDIT: There is a very interesting issue here, though, namely how the findings by 23andme are presented to their customers. There's good research that shows that presenting relative probabilities[2] (as opposed to just picking a sample size and doing everything in numbers relative to that) is very hard to understand for the general public (and even for statisticians unless they're paying close attention!). The Base Rate Fallacy is basically a consequence of presentation. Hopefully, 23andme are doing this responsibly, but I honestly don't know.
[2]: Example: "Eating X increases risk of cancer by 50%". Well, yeah, that might change my risk of cancer from 0.01% to 0.015%, but that that's not something I should worry about. Yet, we see these headlines because they grab people's attention.
For instance, doesn't this mean that a hypothetical future 23andMe drowning in debit could be acquired by a company who could use the data for all sorts of terrible things without ever technically selling it to a third party?
Instead of putting customer data up for sale they essentially just split off the portion of the company that held the data and put that up to be acquired.
0. http://gizmodo.com/of-course-23andmes-business-plan-has-been...
I mean sure, I could be way off, but I could also totally see any of my family members taking the test out of curiosity and I don't see any of them announcing it beforehand. I totally see the genealogy use case as a gateway drug to making this more popular.
https://genos.co/ will do a 75x whole exome sequencing (very good quality even for a clinical test) for $500 with a good customer experience and they don't sell your data. You can then feed the data to https://www.promethease.com/ for interpretation.
It reminded me a bit of an RPG character sheet: +60% resistance to prostate cancer, 2x weakness to alcoholism.
You say that, but at the lab where I work, that level of quality would be a big fat fail - re-sequence the sample and get more data. They further describe their sequencing quality as "≥ 90% loci with 20x or more coverage AND ≥ 99% loci with 1x or more coverage". That's poor quality - very poor quality. We aim for 97% coverage at 20X and routinely get 98.5% They only get away with saying "Genos yields 50 times more data than comparable services" because they are comparing against 23andme, which uses a completely different test methodology.
Separately, can I get in touch with you somehow? I am dealing with clinical genetics as a patient right now, and would love to get some advice.
They talk about confirming variants using Sanger sequencing, but there is quite a bit of talk nowadays of stopping doing that, because NGS is becoming more reliable than Sanger. The problem with NGS is false positives, and the problem with Sanger is false negatives due to allelic dropout (the strand of DNA with the variant doesn't make it to the sequencer, so all you see is normal DNA). There is some concern that doing Sanger confirmation is rejecting more true positives than it is correcting false positives.
Our lab is both clinical and research. We don't do many research whole exomes any more - mostly doing whole genome instead.
You could mail me at nc74rmec@pliggle.homeip.net if you want. (Yes, that's a throwaway address.) Not sure I can advise you much though.
While I'm sure this helps 23andMe's business case, it's a seriously scary time to consider getting your genome sequenced right now.
[1]: https://www.washingtonpost.com/news/to-your-health/wp/2017/0...
Will it be hard for competitors to get this authorization as well?
23andme definitely benefits - all the data they have collected is very valuable, and they intend to sell it to pharmaceutical companies etc.
On the other hand, working in genomics, in my opinion the benefit to any one person having their genome tested in this manner is minimal. The simple reason is that most genetic alterations have low penetrance for phenotypes or involve complex interactions.
https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/u...
They don't go that far. A full genome sequencing costs around $2900 as of 2015. (Which is amazing, since the first one cost billions.) Maybe $1000 with the new Illumina HiSeq X Ten sequencing system. Data from a full genome sequencing is about 80GB. (Opportunity here for specialized compression - 98% of the genome for humans is the same.)
23andme is testing for about 100,000 known patterns using a much simpler approach for about a tenth of the price.
List of service providers.[2]
[1] https://genomicspersonalizedhealth.com/ [2] https://www.scienceexchange.com/services/whole-genome-seq
As part of their process, however, they could extract the DNA and keep a sample frozen for later assays or even full genome sequencing but I don't know if they do that.
https://customercare.23andme.com/hc/en-us/articles/202904600...
Eg Promethease evaluates hundreds of genes (both the risks and positive traits) for a couple dollars: http://snpedia.com/index.php/Promethease
One lady had been adopted as an infant and was desperately seeking any sort of relative who could tell her something about her origins. I told her what I knew about the families I am descended from but man did I feel bad for her. We were likely distantly related and I'm not sure my info helped, but that would be a pretty remarkable upside to genetic testing for people who want answers.
But it is sold as a cutting edge scientific resource that will improve your life. It wont. Not even increasing the chance that you might avoid something somehow, that's the fallacy.
For our level of knowledge regarding causality in biology and genetics, I believe this test is as good as buying your astrological map.
Which does put 23andme's health results in this realm soneca described of "things that might be interesting, but can't be very actionable because they don't want to scare you by returning actually actionable information to you".
Then the FDA came down on them like a ton of bricks.
Now it sounds like they're reopening that door, slowly, step by step. I'm all for it.
So, that is an interesting and valid point. I've thought about it myself. Seems like these tests are something new, and it may take a while before the new thing is absorbed into the culture and it's treated the way it should. Yes, there is still the risk of misunderstanding the information you're getting.
There are also a few simple solutions - e.g. any doctor should be able to help you correctly integrate this information.
How do you know this is accurate?
https://mobile.nytimes.com/2013/12/31/science/i-had-my-dna-p...
>23andMe said my most elevated risks — about double the average for women of European ethnicity — were for psoriasis and rheumatoid arthritis, with my lifetime odds of getting the diseases at 20.2 percent and 8.2 percent. But according to Genetic Testing Laboratories, my lowest risks were for — you guessed it — psoriasis (2 percent) and rheumatoid arthritis (2.6 percent).
>In the case of Type 2 diabetes, inconsistencies on a semantic level masked similarities in the numbers. G.T.L. said my risk was “medium” at 10.3 percent, but 23andMe said my risk was “decreased” at 15.7 percent. In fact, both companies had calculated my odds to be roughly three-quarters of the average, but they used slightly different averages — and very different words — to interpret the numbers. In isolation, the first would have left me worried; the second, relieved.
I'm Canadian and have access to the full list of 23andme's health results. I actually found out that I have a recessive CF trait. Not 100% sure that its correct, but definitely something that I'm going to check out before having kids.
I'd much rather have known about that now, than after having a kid with CF.
It was because I used 23andMe that I now know I am a carrier and can potentially prevent having a child who would suffer from this disease. I'd say that was worth 200 bucks.
Is it a sure fire shot to detecting all rare genetic disease? Of course not.
Is it a good way to become aware that I am a carrier for a rare mendelian genetic disease? Yes. Very much yes.
I would be very curious if you could look up the variant that 23andme have reported you have on http://exac.broadinstitute.org/ and let us know the "Allele Frequency" from there.
The thing is, most people are carriers of several rare mendelian diseases. When we do whole exome sequencing, we get on average a couple of hundred rare potentially pathogenic variants in each patient, of which possibly 20 or 30 are actual causes of rare mendelian disease. However, the patients are only carriers of these disease, and are completely irrelevant to their health. The likelihood of them having children with someone who is a carrier for the same condition is very slim (but something we investigate every day).
For the particular SNP I am heterozygous for in this particular gene, the population level allele frequency is 0.00001649. Missense mutation. Another variant in this gene, a stop loss, is at 0.0017
Yes, of course the likelihood of it being a problem is slim, but definitely not zero. High enough that it is worth knowing.
>but something we investigate every day
You and me both.
Exactly nothing.
It's also good for lessons on why not to drink too much coffee on Adderall.
Actually, this is a lot more useful than checking your own genes once they've already produced you. Generally you've already found all of that out.
Yeah, that's vastly overblown, sorry.
Let's say the average for the whole population of getting Disease X is 10% over a lifetime. You do the genetic test, and it turns out you carry an allele that's been shown with good confidence to raise that risk to 30%. What you get is not certainty, of course, but a place in a row of statistical buckets. There are studies providing solid evidence that Disease X can be typically delayed by years or decades if you do A, B, and C.
Is that information not valuable to you?
Note: I am in the general situation described above. Well, most people probably are, too, one way or another, they just don't know it.
EDIT: Perhaps you're confused because 23andme does not provide this kind of information now. But they did provide it in the past, before the FDA ban. Looks like the ban is now being gradually rescinded, one step at a time, which is good.
> Is that information not valuable to you?
It depends what A, B, or C are. If it's full mastectomy based on a misunderstanding of statistics then no, that information isn't useful and might be harmful.
Angelina Jolie wrote in an OP-ED about her choice to undergo a preventative double mastectomy.
https://mobile.nytimes.com/2013/05/14/opinion/my-medical-cho...
I don't really think about it that much - experimental treatments for it are already basically curing the disease and if I do get it it probably won't be for another 20 or 30 years. But now I can be the tiniest bit proactive - getting my CBC checked every few years, and watching out for unusual symptoms like fatigue.
The challenge is in communicating these things properly with fair analyses of the probability - we have X model that predicts Y risk, and we have Z error bounds on that. While it's unfortunate that most people lack the education to interpret statistical statements like that, I don't see why that should legally preclude me from getting information relevant to my health without a gatekeeper geneticist to hold my hand through "this variant has 1% prevalence, that means that 1 in a hundred people have it...".
We research other issues ourselves and the world hasn't ended. Imagine if you weren't allowed to read the Bible but had visit a "bible counselor" if you wanted to find out about things in the Bible. (I use that example because people make serious life decisions based on the contents of the Bible all the time. )
The reality is the genome isn't the complete instruction set for what makes you you. The interaction with the environment dataset is missing, along with any heritable epigenetic information. Add to that, our understanding of function is still extremely limited. We still don't really understand how one gene generates different proteins (via alternative splicing) at different rates. Or how gene expression is so finely regulated at a cell-specific and sub-tissue-specific level. The list goes on. Rules that seem to apply to one gene or gene family don't apply to others.
One day, we'll likely get there, but that day is still some way off. For that reason, I see no great reason to have my genome sequenced at the moment, though it'd be reasonably trivial to do so.
And (unfortunately) those are the exact variants that services like 23andme do not detect.
23andme uses an array chip. These only detect common variants, in locations that have been pre-planned while designing the chip. A batch of patient samples are all tested together, and the probe for each variant produces a signal. Software then tries to cluster samples into three groups, which are homozygous normal, heterozygous, and homozygous abnormal. If the variant isn't common, then there would not be a decent number of samples in each group, and the clustering would fail. These tests are literally incapable of detecting any variant that is rare.
To detect rare variants, you need to do proper sequencing, for example with Sanger (single gene), or high throughput sequencing (AKA NGS, Next Generation Sequencing). This can be targeted panels of selected genes, whole exome sequencing, or whole genome sequencing.
A disease caused by a variant in a single gene (a monogenic disease) is usually caused by a rare variant. The more severe the disease, the more rare the variant is. A gene may have loads of common variants that do not cause disease. A gene may have a really rare variant that does not cause disease. Or it may have a rare variant that does cause disease - but this needs to be determined by someone with training and experience in the field.
As a lab, we regularly get inquiries by people saying "I have a variant detected by 23andme in <known disease gene> - could this be causing my <rare genetic condition>?" The answer is "No - this test is incapable of detecting disease-causing variants - it only detects the benign ones."
(I.e., arv is a newer version of the older dna-traits, which includes the actual health reports: https://github.com/cslarsen/dna-traits/)
Just `pip install arv`, `python -m arv --example genome.txt` and you're good to go (it's fast as well, parses in 60-70ms).
Of course, this article is about New Zealand, but I will not be surprised to see similar things in the States. Thankfully ACA provides protection for health insurance, but we're already seeing things like https://www.congress.gov/bill/115th-congress/house-bill/1313.
The problem with what 23andme was doing is going direct-to-consumer with tests that were potentially sketchy. If you're willing to risk sketchy information you can find all kinds of bleeding edge research on your particular genetic makeup and choose how to handle it.
By your argument we should regulate who's allowed to tell people that a relative has died.
Yes, we are regulating who's allowed to tell people that a relative is going to die, and we're asking people who do so to show evidence that they know what they are talking about. If someone would go around selling a service "is your relative going to die" by guessing or simply telling what they want to hear, then that should be regulated and prohibited.
As another poster said, "One problem is that they warn that your offspring are at high risk for some condition, when really "high risk" means 0.5% higher risk than the general population. The other is that they may say you are not a carrier for a certain condition, when they only test for one variant of it, where proper tests will test for multiple variants."
If you tell people "we ran a test for X and it was positive/negative" then you'd better be able to show that whatever rituals you performed actually lead to reasonable information about X. Simply having a test that has some information related to X (e.g. if it would be used together with other factors to diagnose X or not X) doesn't mean that you can honestly describe it as "test indicating a high risk of X" - it may be that this particular test is indicating that, and it may be that it (alone) is misleading, and we need someone (e.g. FDA) to draw a line.
http://www.nytimes.com/2013/09/17/science/dna-double-take.ht...
Personally, I'm all for it though. It's a way to have fun with science. As a scientist, it's nice to have stupid "horoscopes" to keep life interesting.