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Biotech Medicine Science

How To Check Yourself For Abnormal Genes 133

Posted by timothy from the first-grab-some-family-photos dept.
AnneWoahHickey writes "While the State of California was harassing personalized genomics companies, and hindering the development of personalized medicine, Wired was preparing a guide to genetic testing. It explains how to make sense of the massive sets of raw data offered by 23andMe or deCODEme, and a way to check yourself for genetic abnormalities that are not covered by microarray tests. Facing a medical community that is fiercely resistant to change, the fate of personalized medicine is truly in the hands of consumers."
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How To Check Yourself For Abnormal Genes More

How To Check Yourself For Abnormal Genes

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  • Oh Come ON! (Score:2, Funny)

    by Anonymous Coward
    You up reading Slashdot at this hour. Don't worry about checking. You got 'em.

  • don't worry (Score:5, Funny)

    by larry bagina ( 561269 ) on Tuesday July 08, 2008 @07:54AM (#24098141) Journal
    if you're reading this, you're unlikely to have offspring.

  • How To Check Yourself For Abnormal Genes

    I am gonna recommend it to my boss.

  • Important caveats (Score:5, Informative)

    by redalertbulb ( 1321747 ) on Tuesday July 08, 2008 @08:00AM (#24098197)
    OK - so first of all 23andme et al do not search for "abnormal genes" - they look for common polymorphisms present in human DNA sequences. These are not abnormal, simply different. Secondly, rs numbers found in association with disease are practically valueless without the underlying functional data, plus replication of the association in different populations. For Zeus' sake, bear this in mind if you ever get one of these tests!

    • Re:Important caveats (Score:5, Interesting)

      by stranger_to_himself ( 1132241 ) on Tuesday July 08, 2008 @08:10AM (#24098285) Journal

      Wired kindly point out that to get any ethically sound advice you should go to a genetic counsellor.

      Why the rest of the article is there is then a bit bewlidering. It's like they're saying if you want meaningless information and bad or dangerous advice, and you want to pay a lot of money for it, these are the places to go.

    • Re: (Score:2, Informative)

      by Anonymous Coward

      http://www.snpedia.com

      is a database of the associations between rs numbers and disease associations.

    • Re:Important caveats (Score:4, Insightful)

      by ultranova ( 717540 ) on Tuesday July 08, 2008 @11:00AM (#24100329)

      More importantly, if you find out that you do have abnormal genes, and nonetheless say that you are healthy to the medical insurance company, have you just committed a fraud, and can the insurance company deny a claim on that basis ?

    • People forget... (Score:3, Insightful)

      by Kensai7 ( 1005287 )
      People forget that genetic counselling is much more than simply "checking some polymorphisms". But even if you ever get results by deCODEme or 23andme, these results are numbers and you need to make sense out of them using sensible statistics to quantify the real danger of developing a disease.

      That's extremely difficult especially for multifactorial maladies which environment plays a major role. If you want serious answers get a professional explain and investigate, don't simply rely on DNA companies.

      In

    • OK - so first of all 23andme et al do not search for "abnormal genes" - they look for common polymorphisms present in human DNA sequences. These are not abnormal, simply different. Secondly, rs numbers found in association with disease are practically valueless without the underlying functional data, plus replication of the association in different populations.

      To be fair, both of those companies do include a panel of custom genetic variants that have actually been found to be associated with various disorders and labs have replicated them and in some cases they've been shown to have function consequences. So it's not like they're just simply running an Illumina 500k SNP-chip with a bunch of random genetic markers on there. Plus even if they did do that, you could still potentially use that data to determine if you're carrying risk alleles when new ones are disc

    • As a matter of fact you can check yourself for abnormal genes (specifically SNPs) quite simply using these companies. The DNA chip they are using tests over 200,000 SNPs (single nucleotide polymorphisms - single changes in just one base at specific locations) and you can look at the raw data easily. The SNPs being completely valueless without the functional data, that is just plainly wrong. They are using the exact same principles as medical genetic tests.

  • No way in hell (Score:5, Informative)

    by Biotech9 ( 704202 ) on Tuesday July 08, 2008 @08:00AM (#24098203) Homepage

    No way in hell anyone who hasn't had massive experience with PCR is going to get results from a DIY PCR. Extracting DNA from a sample is dead easy with the latest generation of kits, and DNA Is fairly stable stuff, but PCR protocols, although simple, are incredibly touchy and take a lot of time to get consistent results from.

    The rough equivalent of having a page that says to Joe Public that he can either pay some professional to build a custom database for his companies needs, or he can download OpenOffice and do it himself. It's only cheaper if you don't put a value on time, quality or results.

    • Re:No way in hell (Score:5, Interesting)

      by Nit Picker ( 9292 ) on Tuesday July 08, 2008 @09:14AM (#24098889)

      I agree with your basic statement, but I read the article in a different way: "You can ban the labs, but this knowledge wants to be free. Amateurs can step into the vacuum if the pros are kept out."

      Just as the early PC's were toys that developed into powerful tools, there is a potential for the interested public to start with haphazard work and, if denied a legitimate source of the information, develop into something usable.

    • Re:No way in hell (Score:5, Informative)

      by Cattus Curiosus ( 970543 ) on Tuesday July 08, 2008 @12:18PM (#24101613)

      No way in hell anyone who hasn't had massive experience with PCR is going to get results from a DIY PCR...PCR protocols, although simple, are incredibly touchy and take a lot of time to get consistent results from.

      I have to disagree with you here, at least for checking a specific, limited set of loci. IAAMB (molecular biologist) but I don't have "massive" experience with PCR and yet I've never had trouble getting it to work by following standard protocols using quality reagents (e.g. from NEB [neb.com]) and primers (from IDT [idtdna.com]). As long as the DIY guide included directions to use IDT's software to assist them in choosing primers and to determine the annealing temperature to use during the PCR cycle, I don't see why your typical DIYer with access to some old lab equipment wouldn't be able to get it to work as long as the DNA prep was good.

      I would imagine a limiting factor to this approach would be the cost of the necessary equipment, with thermocyclers running in the thousands of dollars.

  • Summary a bit biased? (Score:3, Informative)

    by Anonymous Coward on Tuesday July 08, 2008 @08:02AM (#24098217)

    Yes, I know, I must be new here...

    • Re:Summary a bit biased? (Score:5, Informative)

      by intx13 ( 808988 ) on Tuesday July 08, 2008 @09:03AM (#24098779) Homepage
      I agree: harassing personalized genomics companies? a medical community that is fiercely resistant to change? I believe the issue in California was privacy; lawmakers wanted to require that genetic results be sent to a patient's doctor, to provide a safeguard against fraud. While (maybe) controversial, probably not so broadly accepted as a Bad Thing to warrant this summary.

      Unless you're posting in the comments, Slashdot is not your pulpit!
      • Requiring the test results not be released to anyone but the PATIENT would strike me as a benefit to privacy. No releasing to anyone but the doctor is a whole different issue, having nothing to do with privacy and everything to do with an (justified or not) lack of faith in the general public's ability to have access to their own data without turning into raging hypochondriacs.

        • Re: (Score:2, Interesting)

          by Thiez ( 1281866 )

          > a (justified or not) lack of faith in the general public's ability to have access to their own data without turning into raging hypochondriacs.

          Maybe it would be good for people to know more about their risks of having certain diseases. It puts other things in perspective. Why worry about terrorists when you are 10.000 times more likely to die in some other way? Why be a hypochondriac when it is X times more likely that you'll die in a car-crash?

  • All my Genes are slightly unusual... (Score:5, Funny)

    by hyperz69 ( 1226464 ) on Tuesday July 08, 2008 @08:03AM (#24098221)
    I shop at the Levi Irregular Outlet. Good prices!

    • Re:All my Genes are slightly unusual... (Score:4, Funny)

      by Pascoea ( 968200 ) on Tuesday July 08, 2008 @09:09AM (#24098837)
      I have found that as long as your jeans don't say abercrombie, american-eagle, jnco, or hollister, and they cover your entire ass, they are perfectly ok. It's those other "irregular" jeans that people should be checking for, and doing our best to weed out of the population. I find it is very easy to lure them into a big hole. All you have to do is drag some obscenely big sunglasses along on a string. Kind of like fishing, for stupid people.

    • Definitely OT, but I'm with ya. Good prices but apparently I'm the only person in the entire country who wears a 30x29 in their 560 line of jeans. In fact, judging by what retail stores carry, I'm just about the only person in the entire country who wears a 30x29 anything.

      I guess it's true, America is getting fatter and those of us who are fit and trim are being tossed by the side of the road.

      • Your waste is bigger than your length. Stop bitching about those "other" fat guys...

        And learn to hem, you lazy bastard.

  • DIY? Really? (Score:3, Insightful)

    by FlyingBishop ( 1293238 ) on Tuesday July 08, 2008 @08:03AM (#24098223)

    "Design and Order PCR primers and controls"

    "You'll need a cloning kit"

    "Copy the DNA with the PCR reaction"

    "Sequence the amplified genetic material."

    While going to specialists sounds reasonable, we've only just reached the stage where testing large numbers of people is feasible, and only really through DNA microarrays.

    The idea that you could do it yourself using methods invented in the mid-90's methods is just silly.

    • Re: (Score:2)

      by Noexit ( 107629 )

      D'ya think?

    • The average person, no. The obsessed amature with training in a closely related enough field to be able to follow protocols precisely (any branch of biology and a lot of chemistry), with enough money to afford these supplies (probably dozens of times over given how finicky PCR can be even under controlled laboratory conditions) would probably genotype themselves for 5-10 alleles. But I think a lot of people are missing the point of this article. It's not that everyone could do it, or even anyone really SHO
  • I welcome some oversight since I lack the knowledge in the area to tell the difference between a quack giving me bullshit "test results" and someone who actually knows what they're doing giving me useful information.
    No I am not willing to learn enough genetics to spot a quack.

  • Up next. (Score:3, Funny)

    by AltGrendel ( 175092 ) <(su.0tixe) (ta) (todhsals-ga)> on Tuesday July 08, 2008 @08:08AM (#24098271) Homepage
    Reading assembler code without a reference manual for the masses.

  • Online Genetic Testing = Scam (Score:5, Interesting)

    by Lazy Jones ( 8403 ) on Tuesday July 08, 2008 @08:08AM (#24098277) Homepage Journal
    Online genetic testing exposed as a scam [theinquirer.net]

    • Re:Online Genetic Testing = Scam (Score:5, Informative)

      by stranger_to_himself ( 1132241 ) on Tuesday July 08, 2008 @08:25AM (#24098427) Journal

      Thanks for the link. Since we're at it, I'll repost a link I posted in response to the thread a couple of weeks ago on the same subject.

      The US Government Accountability Office compiled a report of genetic testing that is available here [gao.gov]. I'm not posting any quotes from it but its quite strongly worded conclusions are that these online genetic tests are at best worthless and at worst harmful. Any government that doesn't try to shut them down is being negligent.

      • Why shut them down? Why not just license them and inspect them regularly for accuracy?

        • Yeah you're right I was being melodramatic. Extremely heavy regulation, similar to that used to assess the safety and efficacy of drugs is probably the best way forward.

          At the moment labs are supposed to have a license and they are insepcted for accuracy with respect to the actual genotyping they provide. But there is no regulation of the dubious medical interpretation or cross-selling that goes on top of your results.

      • That GAO report is for a different kind of testing, so-called "nutrigenetic" tests. These claim to analyze a few parts of your DNA and come up with customized nutritional recommendations. For example mycellf.com [mycellf.com]. It sounds like these are indeed scams. But sites like 23andMe claim to do something completely different, so this report should not be taken to mean that those kinds of sites are scams too.

    • Not sure it is a scam, but it is expensive:
      https://www.23andme.com/store/ [23andme.com] ($999)
      http://www.decodeme.com/index/about_order [decodeme.com] ($985)
    • Completely different issue: Anyone with an understanding of genetics can tell you that assessing family trees and ancestry history is hard. Using these services for ancestry research is fairly useless. Calling these companies a scam is utterly narrowminded and doesnt show much understanding. The genetic results they come up with are correct and most are focused on these results, not on ancestry testing (which is a side-product). Please do your own research and don't rely on bad journalism.
  • Use a mirror. Pointy head? alarmingly low/thick/broad brow? Lantern jaw? Narrow eyes remarkably close together? Then you probably won't easily get medical insurance, what with all the hooch and the home grown tobaccy. But never mind, you still got your banjo, your smooth bore and your free AOL CD.
    • Use a mirror. Pointy head? alarmingly low/thick/broad brow? Lantern jaw? Narrow eyes remarkably close together? Then you probably won't easily get medical insurance, what with all the hooch and the home grown tobaccy. But never mind, you still got your banjo, your smooth bore and your free AOL CD.

      I still can't for the life of me figure out why some people think that slashdot is populated by elitist snobs and condescending asshats. There's simply no evidence for that. It would be interesting, though, to s

      • Re: (Score:3, Funny)

        by ColdWetDog ( 752185 ) *
        Don't know about you, but MY squirrel pot-pies always start out with dead squirrels. That way, I don't have to chase them around the kitchen.

  • specialized companies test genes. brac gene (breast cancer), apoe (alzheimer's), fragile x, etc. you can do this by mail even

    just make sure to use a name like donald duck or dick johnson. you don't want this info getting to insurance companies

    might as well test that little 1 year old (not any older, consider the trauma for the kid) for parentage too. it has been speculated that something like 10% of babies born before the age of genetic testing were raised by fathers oblivious to the fact they were not the real genetic father of the kid

    • They sell kits for that at Rite-Aid now.. http://www.medicalnewstoday.com/articles/101986.php [medicalnewstoday.com]

  • Yeah, this is never going to cause huge panics amongst the dumb/easily influenced when they mess their test up and get dodgy results.

    Yet another way to part the gullible from his money, I guess.

  • Superheroes (Score:4, Funny)

    by needs2bfree ( 1256494 ) on Tuesday July 08, 2008 @08:24AM (#24098423)
    Finally! A way to find out why I get green and big when I get angry!

    • You're thinking of another test entirely.. but I'm going to go ahead and say you should just save your money and stop eating wild mushrooms, especially those found in or around cow pies.

  • Back to the source (Score:4, Funny)

    by wild_quinine ( 998562 ) on Tuesday July 08, 2008 @08:25AM (#24098425)
    And remember, if you see something you don't like you've got the source code...

  • the article is bullshit (Score:5, Informative)

    by Polir ( 675291 ) on Tuesday July 08, 2008 @08:37AM (#24098527)
    This article was clearly written by someone who has no clues to this kind of work. It covers the basic steps although the draft described would not even work (designing primers just by picking 20 bp sequences without checking if you design them into some repeat, or other non unique sequence, without checking that there is no hairpin formation, no primer dimers etc, also he just says 40 cycles in PCR machine without saying that for each prime pairs you need a specific annealing step and describing what other heating steps are required in the PCR machine). Other thing is that he forgot to mention costs and time to do this. Lets say a primer pair is just $1 (it is more even if you order the smallest amount) and one PCR run is roughly 2 hours (with 40 samples) also preparing 40 different samples takes like at least 1 hour of work. Plus you need the materials for PCR (PCR grade water, MgCl2, buffer, the polymerase ensyme, for like 100 reactions at cheapest you can buy them for like $50-100). The PCR machine cost will be almost negligible with its $1000. Now calculate the costs and time needed for like 1 million SNPS. And you realize that home made traditional PCR techniques won't work. Lastly what if you find some SNPs different than others. You need to know the different databases, you need to be able to filter the 99% junk from somethign valid since most of the SNPs are just variations without any change of the functionality. At best they are linked to some disease at a given population and could have no meaning at an other population.
    • Deserves 5: Insightful

    • Re: (Score:2)

      by stm2 ( 141831 )

      You are right.
      Add a set of micropipettes ($300), eppendorf tubes, and primer is $1 per base, so think about $20-30 per SNP. PCR machines are not licensed for clinical diagnostic, so it will cost more (or just buy a PCR machine with standard research license and use it for diagnostic). Most clonning kits assumes you have some basic research equipment like electropheresis cube, shaker, centrifugue and so on.

  • just laid that out there huh? (Score:5, Insightful)

    by CupBeEmpty ( 720791 ) on Tuesday July 08, 2008 @08:45AM (#24098591)
    "Facing a medical community that is fiercely resistant to change..." really? Thats a bold claim to make especially considering the amount of medical research that happens in this country.

    • Yeah I know! Whoever wrote this needs to try getting a trepanation for ill humors. These days they make you fill out a MILLION forms. Used to be I could get that done at my local barber.

    • Re: (Score:2)

      by nbauman ( 624611 )

      Since the personalized genome companies were started by people in the medical community, they could just as easily say, "Facing a medical community that will promote anything to the public..."

      Or, "Facing an online media that will say anything sensational in a desperate effort to attract readers..."

  • The next step will be the ability to get an assay done on a potential mate, or even random partner (as in Gattaca [wikipedia.org]). While that might be a good thing for he human race in general I'm sure there will be a lot of hate and discontent over it - oh wait, there already is...

  • Facing a medical community that is fiercely resistant to change, the fate of personalized medicine is truly in the hands of consumers.

    Why you'd want this: Hypochondriasis [wikipedia.org]

  • Measurement doesn't entail understanding (Score:4, Insightful)

    by Lhooqtoo ( 876551 ) on Tuesday July 08, 2008 @08:57AM (#24098719)
    Services like those mentioned in TFA may be able to provide information on which genetic variants a person carries, but will not interpret those results. Non-scientists, and even scientists seem to over estimate the ability of modern genetics to assign meaning to common genetic variation. Your average M.D. when confronted with a print out of a patients 'mutations' would be completely unable to make heads or tails of them. There are few instances such as cystic fibrosis, where the etiology is well known, and known mutations WILL cause disease. In other cases such as BRCA in breast cancer, 'mutations' are risk factors for disease. In the vast majority of cases, modern genetics has no idea what a 'mutation' at rs39842093 might actually do. These services are expensive, ambiguous, and require a certain measure of vanity on the part of the consumer. If you have a family history of disease X, there may be a small number of 'mutations' for which you might be tested that could actually impact your future health, and those services are provided by someone other than 23andMe. Biology is a bit different than technology in that observing that biology works does not imply that someone knows how it works. (Creationists can bite me.)
  • about said genetic abnormalities? I have one that caused me(and my brother) to be born with 6 fingers and toes, we had surgery as infants to correct the abnormality, but obviously the code is still in my genes. How would one go about telling someone that they wanted to have kids with about a genetic abnormality? Or should you wait until after the bun is in the oven so to speak....

    • Re: (Score:3, Insightful)

      by Bieeanda ( 961632 )
      If you're at the point where you're discussing the strong possibility of starting a family, you owe it to your partner and yourself to be completely open about your medical history and that of your ancestors. Waiting until after what many people consider to be the point of no return is grossly unfair to your partner and the potential child.

    • Re: (Score:3, Funny)

      by bsDaemon ( 87307 )

      about said genetic abnormalities? I have one that caused me(and my brother) to be born with 6 fingers....

      I know someone who is looking for you...

  • The State of California is trying to shut down direct-to-consumer genetic testing services.

    Can anyone tell me if this is complete hyperbole, or if it's the real deal? For that matter, why does the CA legislature even care about this?

    • No, there is underlying truth to it but the summary writer was a complete fucktard. The reason the legislature was getting involved was possible privacy issues over a patients genetic test information. Safeguarding the privacy of medical data seems to be a pretty good use of legislative power, but that's just me.

    • Having seen the patriot act pass, maybe the CA legislature feels that people are too willing to exchange their rights for percieved security.

      An ad like "The government is trying to force you to buy medical insurance! Send us your DNA and you can buy super cheap medical insurance from us and avoid HUGE fines!" would probably work on a lot of idiots out there.

      Then of course if you get turned down for that you're flagged as having risky genes and everyone (in the insurance industry) benefits.

    • California wants to ban direct-to-consumer genetic testing for several reasons, not the least of which is the fact that they do not want people running to the doctor to obtain unnecessary treatment for a condition they do not have because there might be a statistical correlation between one of their gene sequences and the possibility of having an increased risk for a disease.

      Another poster here said it well when he said that it would be imprudent to seek a clinical regimen for a disease one does not have.

    • Re: (Score:2)

      by TheSync ( 5291 ) *

      why does the CA legislature even care about this?

      Because they trust doctors more then patients apparently.

      See here [wired.com]:

      Last Monday, the state's laboratory field services group issued thirteen cease-and-desist letters to genetic testing companies including personal genomics companies 23andMe and Navigenics as well as DNATraits.com, which gives would-be parental couples information about genetic disorders their children could inherit...

      Health Department spokeswoman Lea Brooks responded to Wired.com's request for

  • Step 1 (Score:4, Funny)

    by The Wookie ( 31006 ) on Tuesday July 08, 2008 @09:30AM (#24099109)

    Step 1: Hold your leftmost tentacle approximately 4-6 inches from your middle eye.

  • Would you use "alpha" version software? (Score:4, Informative)

    by ponos ( 122721 ) on Tuesday July 08, 2008 @09:34AM (#24099147)

    Speaking as someone who has done a PhD on genome-wide microarray SNP analysis, I can tell you that we are not yet at a point of maturity where you can simply put a drop of blood in a machine and get reliable prognostic information or lifestyle and treatment recommendations.

    The technology is actively researched, i.e. most often we're not looking at the results from a clinical standpoint but as an indicator of the performance of a certain method. Practically speaking, only research centers are interested at the stuff and you would be extremely hard pressed to convince practicing doctors to incorporate current results in their everyday work, even though some studies have appeared in famous medical journals (New England Journal of Medicine, Nature etc). Using software notation, the results are "alpha" grade at the moment.

    That being said, there is no harm in knowing that you have an Adenine in position XXXX. Harm comes from acting upon that knowledge without sufficient clinical evidence.

    P.

  • From my future hiring boss:

    We're sorry, but we cannot entertain the possibility of hiring you on the grounds that your genes are far too normal. We have a very strict policy of only hiring miscreants and dead-weight with abnormal genes. This may seem... odd at first glance, however, hiring individuals with clear sense and an overall good mental and physical disposition are counter-intuitive to our mission statements goal of creating an immoral, crooked and inefficient operation. You see, the more problem

  • Look in the mirror (Score:3, Funny)

    by blueforce ( 192332 ) <clannagael@@@gmail...com> on Tuesday July 08, 2008 @09:42AM (#24099247) Homepage Journal

    If you have a huge proboscis and you're wearing Jordache, you're screwed on both counts.

  • Problem with simple genetics in article (Score:5, Informative)

    by LightPhoenix7 ( 1070028 ) on Tuesday July 08, 2008 @09:46AM (#24099299)

    Whoever wrote this article shows a gross misunderstanding about how genetics actually works. The central dogma of genetics applies here: DNA is transcribed into mRNA, and translated into proteins, which can then be post-translationally modified.,

    First - a single nucleotide change may or may not cause a "genetic defect." Translation involves taking three nucleotides (aka bases) and getting the appropriate amino acid from that. There are 20 common amino acids, and 64 combinations - so there is some overlap. If the changes nucleotide doesn't change the corresponding amino acid, it doesn't matter.

    Second - not all mutations are harmful. If a mutation happens in an exon (a piece that is cut out), there may well be no difference if there is a mutation there or not. Even if it' is in a part that is kept, it may not be in a part of the protein that dictates structure or function.

    Third - most organisms, including humans, have built in redundancies and backups. Losing a gene doesn't usually mean losing the protein, because often something else will make the product another way, or compensate. In diploid organisms often this can be duplicated genes or the other allele.

    In short, in order to truly make sense of the data given by these companies you really need to know at least the basics of genetics and have an understanding of how the gene and protein work. These are no small tasks and, surprise, generally results in getting a degree in some branch of biology.

    • Re: (Score:2, Informative)

      by shipbrick ( 929823 )
      Just a few technical notes regarding this post.
      1) Silent mutations can still cause problems, such as altering splicing (e.g., HGPS/progeria) so this statement should not be absolute "if the changes nucleotide doesn't change the corresponding amino acid, it doesn't matter"
      2)Introns are removed, not exons.
      3)Again, your statement is generally true, but some instances exist where loss of 1 copy of a gene can still be detrimental.
      I'm not trying to be rude, just commenting. I agree that to interpret the dat

    • I think that epidemiologically the results can make sense without a direct biological understanding. You can be pretty sure just by doing enough tests that a certain mutation is linked to a certain disease. The part about protein structure and function necessarily comes after that. For example we still don't really know why APOEe4 leads to an increased dementia risk, despite a lot of competeing hypotheses, although we certainly know that it does.

      Also, when doing these sorts of genome wide assessments, th

    • Re: (Score:2)

      by ponos ( 122721 )

      Whoever wrote this article shows a gross misunderstanding about how genetics actually works. The central dogma of genetics applies here: DNA is transcribed into mRNA, and translated into proteins, which can then be post-translationally modified.,

      Not exactly true. The main concept behind genome-wide microarray analysis is the fact that SNP markers are in linkage disequilibrium with disease-related alleles. Therefore, it is not the presence of a silent "mutation" (the one we detect) that matters. Rather, it is the fact that said mutation usually happens to be associated/correlated with another nearby "mutation" that does affect gene function.

      P.

  • Now I just to go thru 10 years of medical training and we'll be good to go!

  • waste of time and money and psychic energy (Score:3, Insightful)

    by peter303 ( 12292 ) on Tuesday July 08, 2008 @10:36AM (#24099963)
    Most abnormal genes arent expressed for unclear reasons. You just spend money on useless information and mental energy worrying about the results.
  • Hey is that a mutation in your genes or are you just happy to see me?

  • by filing a Freedom of Information Act request against the FBI, which has undoubtedly already taken my DNA from some place or another under a secret government civilian spy program...

  • If you're reading slashdot, you can already check off one of the abnormalities...

    (grin)

  • There are a lot of people bashing this and I agree, something like what deCODEme and 23andMe provide is probably not for most people.

    On the other hand, I could actually use something like this. I have some unusual issues that are very probably genetic in origin. In fact, I have a good idea of one possible genetic cause to 3 major symptoms that I have. I've spent years with various diagnoses and none of them have panned out.

    There are no other tests for the particular genetic defect I suspect I have. For $985

    • I won't ask what your particular conditions are, but if they are sufficiently badly understood you can probably find a researcher in the field who wants to look at genetic underlying causes and would genotype you for free. But they'll need a lot of similar people to be able to narrow down a genetic cause in this way.

      Doing an exploratory genome wide association study on a sample of one (ie yourself) will lead you nowhere, because these sites will only test for relatively common polymorphisms, and the averag

      • Sorry I should have read your post more closely. You have a candidate gene so the genotyping might be more valuable. Although if that's the case it really might be worth trying to get it done as part of some research programme. The marginal cost of running these analyses costs nothing like what these sites are charging.

      • Re: (Score:2)

        by Pedrito ( 94783 )

        Actually, the research I'm basing my opinions on is fairly recent. It's a single gene that might be responsible for 3 symptoms I have. By determining the allele that that I have of that gene, I can see if it matches my expectation. If it does, then it's likely that defect is the cause of the symptoms I experience. It's as simple as that.

  • Consumers and personalized medicine (Score:3, Interesting)

    by dstates ( 629350 ) on Tuesday July 08, 2008 @01:01PM (#24102341) Homepage

    Give me a break - the medical community is enthusiastic to the point being mesmerized by personalized medicine. Consumers need to worry about the "self fulfilling monopoly" aspects of personalized therapy. Once you have spent a lot of time and money diagnosing your unique disorder, the drug company offering you a customized treatment effectively has no competition. There is a good chance that they will charge painfully exorbitant prices. Look at recently released cancer drugs like Avastin, treatment costs $90k per patient per year!

    The real issue is demonstrating that these strategies are effective when the specific treatments are only being given to a single patient. Hard to design an objective clinical trial validating efficacy under those conditions. The fate of personalized medicine is truly in the hands of the FDA.

    P.S. Agree completely with the comments that this "how to" article is infeasible and written by someone with serious misunderstandings of the technology and underlying science.

  • I study associations of genotypes with diseases for a living. The article worries me a little because it does not make clear that many genotype-disease correlations are very weak or tenuous. The article begins like this:

    Nearly every day, somebody in the research community claims to have found a genetic marker associated with some sort of health condition.

    That is true but we must acknowledge that many if not most such claims have failed to replicate and they are probably mostly statistical errors -- do e

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