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Direct-To-Consumer Genetics Testing Makes a Splash In Boston 78

Posted by timothy
from the what's-under-my-shell? dept.
eldavojohn writes "MIT's Technology Review has the scoop on the first annual Consumer Genetics Show starting today in Boston and it looks like the rage these days is genetic testing sans the middle-man physician. And it's getting more prevalent and more available: 'A number of companies offering direct-to-consumer genetic testing have cropped up in the past two years to capitalize on these advances, from 23andMe and Navigenics, which offer genome-wide scans to identify specific disease-linked genetic variations, to Knome, which offers whole-genome sequencing to the wealthy. Any doubts that personal genomics is making its way into the mainstream can be assuaged with a look at Interleukin genetics, a startup that sells genetic tests for heart-disease risk, B vitamin metabolism, and other factors through Amway, the direct-sales company.' Over-the-counter genetic tests may be much closer than you think. The article raises concerns that this information will be misused/misinterpreted or even provide a false sense of security. We've discussed some states prohibiting this last year."
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Direct-To-Consumer Genetics Testing Makes a Splash In Boston

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  • Knome (Score:2, Funny)

    by Anonymous Coward

    It about damn time KDE get it network object model environement...

    • Re: (Score:3, Funny)

      by SEWilco (27983)
      Yeah, but I use Gnome. Its genetic sequencing has an awful user interface.
  • by oldspewey (1303305) on Tuesday June 09, 2009 @12:40PM (#28267547)
    Considering the statistical prevalence of botched tests in the controlled laboratory environment of mainstream medicine, I shudder to think how many "wrong" results we will see when a pyramid company like Amway starts offering tests direct-to-consumer.
    • Dammit it said I'm pregnant!

    • Re: (Score:1, Troll)

      by jeffmeden (135043)
      Direct to consumer is a bit of a misnomer, with Amway it will be more like direct to reseller to reseller to reseller to reseller to drug dealer's wife to drug dealer's wife's kid (from another daddy) to another reseller to YOU. With efficiency like that, the price will be GREAT!
    • by pzs (857406) on Tuesday June 09, 2009 @01:11PM (#28267979)

      Don't even get me started on the complexity of the bioinformatics that will be involved in resolving this data. All you'll need is for somebody to misplace a switch in the pipeline of tools you need to analyse data from these insanely complex high-throughput sequencing [wikipedia.org] devices and you could get completely unreliable results.

      Of course, that won't happen because IT professionals never make mistakes.

      The difference between a pathological and a normal allele could be just one SNP [wikipedia.org] - any number of cockups in experiment or analysis could misidentify this kind of difference.

      I know, this kind of misdiagnosis can happen anywhere, but these companies are selling some kind of miracle new method when we're only just getting started on understanding how high-throughput sequencing works. Bad idea.

      • Re: (Score:1, Funny)

        by Anonymous Coward
        You are suffering from short-term thinking. Sure you've been misdiagnosed with having a pathological allele ... but think of the satisfaction and financial freedom that comes with working from home doing something you love all while earning up to fifteen thousand dollars per week.
      • Yes software development is error-prone. But your assumption that they no QA process is highly questionable.

        A bug which causes "completely unreliable results" would actually be quite easy to find, when it tells a white man he's disposed to sickle-cell, for example. I would imagine the process also has some "sanity checks" to see if the gender and eye color detected genetically matches the customer.

        So, yes, there will be bugs. So what? Hopefully they will be caught in QA. If not, they will likely be caught a

        • Re: (Score:3, Insightful)

          by Belial6 (794905)
          Seriously, just look at how complex a CPU is now, and think about the fact that everything from airplanes to street lights to your personal finances are controlled by the devices that are insanely complex with insanely complex production processes. Yet people trust these just fine.

          Then there is the "But this is your health" idea. People are making huge choices every day with information that is already known to be loaded with errors. Why worry about this being any different. Hell, people are buying "
        • Yes they can do QA. But your assumption that they would be motivated to do so is highly questionable.

          They could only lose clients, and thereby profits, by doing it. And the first priority of a business is always money. Even if it mean death, rape and torture of millions of people. See Monsanto or Haliburton for examples.

          • LOL, who did Monsanto rape? What sort of money do they pay rapists? I thought they did biotech.

      • "Of course, that won't happen because IT professionals never make mistakes."

        It's not just IT professionals. It's bioinformatics in general. Most of the code at the heart of these pipelines was developed by grad students to generate publications. The code is not production quality. The code is always poorly commented. Scientific validation is very ad-hoc - there are no generally accepted methods for validating algorithms that operate on genomic data. There's a culture in bioinformatics (and to some exte

      • by RDW (41497)

        I don't think the biggest issue is any potential bug in the software. Rather, it's the interpretation of the data even when it's been analysed correctly. At this stage, most of large-scale genomic profiling being offered to consumers is based on SNP chips rather than next-generation sequencing. These typically give a readout of 'only' several hundred thousand variable bases scattered across the genome. The difficulty lies in attributing meaning to any particular variant. Simply matching against a database d

  • by pzs (857406) on Tuesday June 09, 2009 @12:45PM (#28267599)

    Have your own DNA sequence would be cool and everything, but it's not everything [wikipedia.org]. Epigenetic changes have a massive impact on gene expression, they're not included in the sequence and they're heritable. Of course, there are lots of things you can look at in the sequence, but you could miss a lot by getting too hung up on just the sequence.

    • by ruin20 (1242396) on Tuesday June 09, 2009 @01:07PM (#28267907)

      We're not looking for a complete work up here. Genetic testing becoming more available and consumable is a good thing as it should spur development in the industry. Additionally there are a lot of conditions for which people can have genetic predisposition and knowing that predisposition may change their treatment and behavior in ways that may actually save money. Being able to better focus and tailor one's individual medical care is a good thing and will hopefully lead to long term cost savings. I hope genetic testing for serious, long term disabilities that can drive up end of life care becomes common place as it could be used as a mitigation for rising cost of treatment.

    • by interkin3tic (1469267) on Tuesday June 09, 2009 @01:15PM (#28268039)

      Which is just one of the hundreds of ways unscrupulous companies could overstate the results they are selling.

      I do think it's likely though that most companies will be following established markers, saying for example "You have form B of gene X which may predispose you to breast cancer, you should be more vigilant about getting mammograms. This does not mean you WILL get breast cancer." It would be quite an obvious ethical violation if a company like this were to say "You have gene Y, that means Y disease or good thing will happen."

      In fact, I don't think these companies should deliver any news but INCREASED risk of certain diseases. No matter how many disclaimers you put on any "good" news, about how it's just one factor, you know people will just hear what they want to hear.

      For example, if you tested for a gene that maybe lowered your risk of heart disease slightly, people would:

      1. See that they have one marker for low risk of heart disease
      2. Ignore/misunderstand the disclaimers that this is just one marker and there are numerous factors
      3. Use it as an excuse to smoke and eat steak and eggs every day, saying "It's okay, I have good genes!"
      4. Die of massive heart attack
      5. Families sue these companies saying they lied, which will be a waste
      6. PROFIT (for the lawyers)

      But there are known risk factors in DNA sequences that have been established even when epigenetics have been ignored. Risk factors that you can do something about, like predisposition to certain types of cancers, are something people should be aware of.

      Not so sure about predispositions to uncurable diseases like huntington's. I'm sure some of these companies will offer options to people who don't want to know about things they'll have no control over.

      • Re: (Score:3, Interesting)

        by blueskies (525815)

        Isn't that a good thing? The stupid people die off to make room for the rest of us?

        • You'd think, but since the lawyers profit there, it's just trading one class of idiot for another.

        • by timeOday (582209)
          Or maybe it isn't stupid. Genetics play a strong role in who gets addicted [nih.gov], and a huge role [sciencedaily.com] in the carcinogenic effects of smoking as well. I know there is a certain public-health mentality that abhors these studies fearing they might give some people license for risky behavior, but if you ask me that's just ignoring the facts to fit the risk model as it was previously understood. The fact is, people do have different risk/reward ratios depending on individual differences. My fair skin means I have to m
          • by blueskies (525815)

            I'm not sure why you are responding to my post. I don't disagree that there genetic factors play a huge role in disease (ie: heart disease).

            I am saying just because stupid people would "overplay" their cards is no reason not to offer the testing.

            As long as the companies are truthful in their information they have no duty to prevent people from being stupid with it.

      • Re: (Score:3, Interesting)

        by Red Flayer (890720)
        It's not just about risk of disease in the person tested. It's also about reproduction.

        Genetic counseling is important for proto-parents who have inheritable diseases, or may carry an unexpressed gene for those diseases.

        Furthermore, lots of insurance companies don't cover genetic counseling. It can get very expensive...

        Example. I have slight hip displasia (genetic). My wife does not, but her brother does -- and her brother's son had a much more serious condition that was at least partially due to th
    • by daymitch (699517)

      Certain next-generation sequencing technologies can generate this information, too. It lags a bit behind the canonical base sequencing, but not much.

  • by gbarules2999 (1440265) on Tuesday June 09, 2009 @12:47PM (#28267635)
    One of the more popular brands, called "plasmids," are bound to become mainstream, and, well, we have Bioshock to explain what happens after that.

    Get everybody burning those Ayn Rand books, on the double!
  • Genetic Blackmail (Score:5, Interesting)

    by LSDelirious (1569065) on Tuesday June 09, 2009 @12:49PM (#28267683)
    Wonder how long it will take before people start finding ways to criminally abuse these kits, by say testing someone else without their knowledge or consent then blackmailing them to not reveal their predisposition to illness to their health insurer, or in the case of a celebrity the media?
    • by Devout_IPUite (1284636) on Tuesday June 09, 2009 @01:10PM (#28267969)

      There was a law passed saying you can't discriminate on genetics. That law and the private health care industry are mutually incompatible, one will have to die within the next 5-15 years.

      • Re: (Score:3, Informative)

        by dk90406 (797452)

        There was a law passed saying you can't discriminate on genetics.

        There, that will stop the criminal blackmailer in their tracks. :-P
        On a more serious note, IBM (and hopefully other companies), has made a corporate rule to never require genetic information from employees or from people applying for a job. They are out early, but that is only good, as future tests may reveal tendencies for violence, psychopathy or ...

        • without IBM testing for the genetic trait of psychopathy, IBM as a future business is doomed, since all of its competitors will do better in business. this is due to the fact that they will be screening for psychopathy and will only be hiring executives who show a strong affinity for the set genetic markers for psychopathy

          • Re: (Score:3, Informative)

            by dk90406 (797452)
            True, that is a risk. But all companies get their share of psychopaths today. They use people to screen them, and generally stop them before they are put in positions, than can damage the company.
            There are many jobs they are not ideally suited for, but they may be damn good as programmers or other non-people facing jobs.
      • Kind of like laws saying you can't discriminate by age, race or sex either? They're obviously working really well.

      • by Rich0 (548339)

        Actually, such a law is perfectly compatible with private health care.

        However, it is completely incompatible with voluntary private health insurance. It is only compatible with voluntary public health insurance if taxpayers don't mind paying through the nose as a result of it.

        And the problem isn't even the law - it is the existance of the technology. Suppose I take a genetic test and find out that I'm unlikely to suffer from any chronic health problems until I'm 70, and then I'm likely to develop diabetes

        • by RsG (809189)

          That is essentially public health insurance, although there are ways it could be semi-privatized. However, for it to work the government needs to rule with an iron hand and make sure everybody pays in.

          I don't know where you live but, regardless of the particulars of the health care system, the "iron hand" you refer to no doubt exists already (assuming you aren't in, say, Somalia),. Taxation.

          Most government health insurance programs in the world are tax funded, including the "semi-privatized" ones. This is both a good and bad thing - it makes sure everyone pays in, and everyone gets covered, but it also raises the tax burden. Most people living with such systems consider this worthwhile, provided of co

    • Re: (Score:3, Insightful)

      by kungfugleek (1314949)
      Or perhaps a well-known CEO of a wildly successful company keeping his shareholders in the dark about the truth of his personal health? Yes, as with any commonly available technology, the possibility for abuse is staggering.
      • by Golddess (1361003)
        Steve Jobs' health should have no bearing on the financial success of Apple.

        Yes, I know in actuality it does (did?), but Steve Jobs isn't immortal, he will one day die. If Apple is to continue after Steve Jobs, he needs to be able to step aside quietly now so that Apple may shine on its own without the help of the reality distortion field.
    • Re: (Score:3, Interesting)

      by Qzukk (229616)

      how long it will take before people start finding ways to criminally abuse these kits

      Who needs a kit for that? Just tell the person you ran the test and you're going to let everyone know what the results were, if they call your bluff move on to the next victim.

    • Re: (Score:3, Informative)

      by 7-Vodka (195504)

      That's really insightful. It brings to mind the movie GATTACA when ethan hawke had to be extremely careful of where he left his dead skin cells, saliva, hair, etc. But this will be the case regardless of whether these tests are direct to consumer.

      Imagine a home kit for paternity testing. Someone could get access to some of the british royals saliva or hair and blackmail them with proof that prince harry was diana's lover's son. I know it's blatantly obvious already, the guy is a spitting image of her red h

  • by jr76 (1272780) on Tuesday June 09, 2009 @12:50PM (#28267689)
    People do not possibly comprehend the accuracy required for genetics tests to have any validity, of which even current companies aren't the best at. By using a company like Amway, all that you're going to get is very rough probabilities, exactly the opposite of what consumers want, but what they'll be left with, since they naturally cut corners and need to do a CYA job, leaving that as the net result.

    The only hope I can come of with this nonsense is that people begin realizing the NEED for accuracy on scales beyond you can imagine as a result of the useless of genetics tests when you don't do them right.

    Note: I've already done these tests (NOT Amway, of course), which is why I know what I'm talking about here.
    • What? A company based on pyramid selling wouldn't be a good place to buy my genetic tests from? No...
  • an advertisement for Amway.

    although I can't complain too hard, even with stuff like this and kdawson... The good stuff versus crap ratio is still (significantly) higher on this site than most others which is why I keep coming back. uh, yay slashdot?

    anyways, I understand the Ashkenazi Jews have been doing this for some time due to specific genetic disorders specific to their group. And, as I'm no expert I'm not going to talk at any length on this, go wikipedia it =)

  • ...Mari Baker was on the Stanford Entrepreneurial Thought Leaders [stanford.edu] podcast a few months ago; she gave an pretty interesting talk.

    Actually, if you've got a long commute or like to jog and listen to stuff, the whole ETL archives [stanford.edu] are pretty good. Some of the ones featuring starry eyed (and heavily government subsidized) green-tech folks are kind of tedious, but, most are good stuff.

  • I watched this (not entirely good) movie with despair. That's not the way I want my world to become. I want no part of it. Some things just shouldn't be messed with.
  • At least this will help us in the long run, start to get new techniques, medications, even procedures out quicker because there are always a few brave souls willing to risk it all, for that end result.

  • by Ingenium13 (162116) <ingenium AT gmail DOT com> on Tuesday June 09, 2009 @01:28PM (#28268275) Homepage
    I actually had a startup doing direct to consumer (DTC) genetic testing for a mutation that gave resistance/immunity to HIV. For many reasons, we aren't around anymore, but the reasons included regulatory changes, a rapidly changing market, and ethics. I now feel it's morally wrong to offer these tests to consumers who have no idea how to interpret them and what they mean; at least genetic counseling should be offered with the test. Someone should not make life altering decisions without the consultation of someone trained in the area. For example, suppose someone gets a BRCA 1/2 test, which tests for predisposition to breast cancer. Suppose 60% of those with the BRCA mutation get breast cancer (don't quote me on that figure, but it's in that range). Many women may then decide to get a mastectomy, however, the actual likelihood is much lower than 60% (see Bayes Theorem). Without consultation, they may make a terrible choice, and unfortunately many doctors are not trained in genetics yet. I've since become involved with a doctor in the Connecticut/New York area who has started a practice centered on genetics. I'm now convinced that this is the only way to go, and that direct to consumer tests are simply a passing phase. 23andme and Navigenics even say that their tests are not medically useful. I have a blog devoted to this topic if anyone is interested: http://www.thinkgene.com/ [thinkgene.com] and the doctor at that practice also has a blog: http://thegenesherpa.blogspot.com/ [blogspot.com] In fact, if anyone wants a free genetic test that's better than the one offered by 23andme and Navigenics, and you happen to be in the New Jersey area, Coriell is giving them away (http://www.thinkgene.com/i-spit-at-coriell), and this is where the future of genetics is going.
    • by pzs (857406) on Tuesday June 09, 2009 @01:51PM (#28268635)

      Without consultation, they may make a terrible choice, and unfortunately many doctors are not trained in genetics yet.

      In this case, the problem is that Doctors are not trained in statistics. The example you quote, and many more, are reference in this excellent book [amazon.co.uk] about the irrational decisions people make, partly because they don't understand statistics.

      • by treeves (963993)

        IIRC, in that book he makes an interesting claim about the understanding of physicians in regard to Bayesian probabilities in particular.
        In fact, I made a PowerPoint slide about it to teach co-workers about it, so I still have the example available:

        1% of women at age forty who have routine breast cancer screening actually have breast cancer.
        80% of women with breast cancer will have a positive mammogram.
        10% of women who dont have breast cancer will get a false positive mammogram.

        Ask MDs "A woman age 40 has a

    • Re: (Score:3, Insightful)

      I now feel it's morally wrong to offer these tests to consumers who have no idea how to interpret them and what they mean;

      It is never morally wrong to give people information about their own bodies. Not ever. In nine years of patient care and twelve years of research, I have never encountered a situation in which deliberately withholding information from a patient was the right thing to do, and at this point I really don't expect I ever will. (I have, unfortunately, encountered many situations in which w

    • not everyone uses them wisely

      is this a valid rationale in your mind for denying them their reproductive rights? of course not

      likewise, simply because a lot of people are idiots about what their genetic makeup means, this is no rationale for denying them that information. its already there's, it's already their provenance. they every right to know what it is, regardless of what they do with it

      the logical fallacy in your thinking is that denying them access to the information will prevent them from doing some

  • Come on... Is the freedom of information crowd really going to rally against letting people get this information on themselves because they assume that they won't understand it or use it correctly?

    Also, I'm not exactly the most pro-business guy in the world but let's see if they screw up before we start talking about outlawing their industry. If there's a company out there that claims to be able to do it accurately, let them operate until there's proof otherwise. Even if they were selling inaccurate tests,

  • by a strange coincident, this was published today.

    http://www.explosm.net/comics/1681/ [explosm.net]
  • As someone with a PhD in genetics, I can tell you that most people in the US don't have the minimum level of biology to even understand what the results of a test could mean. Biology is a foreign language to those not trained in it. Trying to give a layperson the "bottom line" from such a test is potentially a bad idea. That doesn't mean I am opposed to the idea; I think it's great. But as others have pointed out, without any sort of genetic counseling, or attempt to understand the language on the consumer'

  • The government did a study a few years aback, regarding the legitimacy of online genetic testing companies. The whole report can be found here: http://www.gao.gov/new.items/d06977t.pdf [gao.gov] Their findings are a bit disturbing to say the least, it seems like some of the genetic testing companies out there try to sell you their "nutritional supplements" and none of the companies that were tested seemed to provide solid, accurate results. There also seems to be a lack of oversight regarding the procedures.
  • The highly targeted genocidal possibilities of moving this forward are terrifying.
  • I'm waiting for the first do it yourself clone kit
  • Does this mean that in Tennessee I will finally be able to find out if I really am my own first cousin?
  • Here's a nifty story I did for Politics in Minnesota based on the docs about Minnesota's mostly-mandatory infant DNA screening program. It turns out that the State owns the DNA intellectual property rights but the Mayo owns the derivative works, according to the contract. Who knew?

    The original headline was "Freedom of consent, total galactose & intellectual property: Minnesota's infant DNA Mayo-Gopher industrial complex". see
    http://www.politicsinminnesota.com/2009/may29/3251/freedom-consent-total-galact [politicsinminnesota.com]

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