Slashdot Mirror


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

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."

9 of 78 comments (clear)

  1. Disaster waiting to happen by oldspewey · · Score: 5, Insightful

    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.

    --
    If libertarians are so opposed to effective government, why don't they all move to Somalia?
    1. Re:Disaster waiting to happen by pzs · · Score: 4, Informative

      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 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 - 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.

  2. What about epigenetics? by pzs · · Score: 4, Informative

    Have your own DNA sequence would be cool and everything, but it's not everything. 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.

    1. Re:What about epigenetics? by interkin3tic · · Score: 5, Interesting

      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.

  3. Genetic Blackmail by LSDelirious · · Score: 5, Interesting

    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?

    --
    Slavery is the legal fiction that a person is property; A Corporation is the legal fiction that property is a person.
    1. Re:Genetic Blackmail by Devout_IPUite · · Score: 4, Insightful

      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.

  4. Amway = Worst Possible Company for Genetics Ever by jr76 · · Score: 5, Insightful

    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.

  5. I had a DTC Genetic testing startup by Ingenium13 · · Score: 4, Interesting

    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/ and the doctor at that practice also has a blog: http://thegenesherpa.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.

    1. Re:I had a DTC Genetic testing startup by pzs · · Score: 5, Interesting

      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 about the irrational decisions people make, partly because they don't understand statistics.