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How To Check Yourself For Abnormal Genes
Posted by
timothy
on Tue Jul 08, 2008 06:40 AM
from the first-grab-some-family-photos dept.
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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Submission: How to Check Yourself for Abnormal Genes by Anonymous Coward
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Oh Come ON! (Score:2, Funny)
Re: (Score:2)
You up reading Slashdot at this hour.
9:50 PM?
Re: (Score:2)
Come on. You are in the same time zone as San Francisco. You gotta be kidding with that last remark.
don't worry (Score:5, Funny)
Re:don't worry (Score:5, Funny)
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Re: (Score:2)
Re: (Score:3, Funny)
Important caveats (Score:5, Informative)
Re:Important caveats (Score:5, Interesting)
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.
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Re: (Score:2, Informative)
http://www.snpedia.com
is a database of the associations between rs numbers and disease associations.
Re:Important caveats (Score:4, Insightful)
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 ?
Parent
People forget... (Score:3, Insightful)
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
No way in hell (Score:5, Informative)
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)
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.
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Re:No way in hell (Score:5, Informative)
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.
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Summary a bit biased? (Score:3, Informative)
Yes, I know, I must be new here...
Re:Summary a bit biased? (Score:5, Informative)
Unless you're posting in the comments, Slashdot is not your pulpit!
Parent
Requiring they be sent to a doctor isn't privacy (Score:2, Interesting)
Counseling is the key (Score:3, Insightful)
Why don't you tell me why I need someone with an MD behind their name to tell me what a standard output from a machine which takes a centrifuge of my spit, processes it through a standard chip and pulls out my dna composed against probable issues I could have, which THEN I can do a high-end explicit test from an MD afterwards?
You don't need the MD for the actual processing of the sample. As you put it, a monkey could do it.
You need the MD for the counselling that goes together with the result giving. To avoid people misinterpreting the results, putting wild theories because one test came back as positive, or to notice that the patient is too much distressed after some news and might be at risk of doing something crazy.
You also need an MD to discuss before hand of the utility of the test, their significance, what they are *actual
All my Genes are slightly unusual... (Score:5, Funny)
Re:All my Genes are slightly unusual... (Score:4, Funny)
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DIY? Really? (Score:3, Insightful)
"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.
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D'ya think?
You're Missing the Point (Score:3, Insightful)
Up next. (Score:3, Funny)
Online Genetic Testing = Scam (Score:5, Interesting)
Re:Online Genetic Testing = Scam (Score:5, Informative)
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.
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How to do it the cheap easy way: (Score:2, Funny)
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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
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you can get tested, no big deal (Score:5, Interesting)
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
not that i disagree with you (Score:2)
but i am already envisioning the late night infomercials
a little bit of knowledge + a lot of fear = $$$
Not a potential panic...honest! (Score:2)
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)
Back to the source (Score:4, Funny)
the article is bullshit (Score:5, Informative)
just laid that out there huh? (Score:5, Insightful)
Great for the entire family! (Score:2)
Why you'd want this: Hypochondriasis [wikipedia.org]
Measurement doesn't entail understanding (Score:4, Insightful)
How would you tell a significant other (Score:2)
Re: (Score:3, Insightful)
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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...
From TFA (Score:2)
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?
Step 1 (Score:4, Funny)
Step 1: Hold your leftmost tentacle approximately 4-6 inches from your middle eye.
Would you use "alpha" version software? (Score:4, Informative)
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.
Look in the mirror (Score:3, Funny)
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)
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.
waste of time and money and psychic energy (Score:3, Insightful)
Consumers and personalized medicine (Score:3, Interesting)
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.
Re:Next up - how to remove your own liver (Score:5, Funny)
Bucket? Stapler?
I think you're talking about the more advanced operation "How to remove your liver and live just long enough to put it in a bucket.
People should start with "Remove your liver" that just requires the knife, and then grow up to more complex things.
If you enjoyed this comment you may also like:
"Replacing your blood with pink lemonade and how to stop the brutal pain".
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