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How To Check Yourself For Abnormal Genes

timothy posted more than 5 years ago | from the first-grab-some-family-photos dept.

Biotech 133

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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133 comments

Oh Come ON! (2, Funny)

Anonymous Coward | more than 5 years ago | (#24098051)

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

Re:Oh Come ON! (1)

kipman725 (1248126) | more than 5 years ago | (#24098121)

yes I know 12:49 in the afternoon and I'm already up. I danger of loosing my geek cred here. Oh wait you mean everyones not in the same time zone?

Re:Oh Come ON! (-1, Troll)

Anonymous Coward | more than 5 years ago | (#24098189)

West coast is all that counts. LA is the center of the universe. YOU, sir, are a faggot.

Re:Oh Come ON! (1)

orasio (188021) | more than 5 years ago | (#24098455)

Come on. You are in the same time zone as San Francisco. You gotta be kidding with that last remark.

Next up - how to remove your own liver (0)

Anonymous Coward | more than 5 years ago | (#24098125)

All you need :

A bucket
A sharp knife
A stapler

Re:Next up - how to remove your own liver (5, Funny)

Thanshin (1188877) | more than 5 years ago | (#24098335)

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".

don't worry (5, Funny)

larry bagina (561269) | more than 5 years ago | (#24098141)

if you're reading this, you're unlikely to have offspring.

Re:don't worry (5, Funny)

oodaloop (1229816) | more than 5 years ago | (#24098263)

I have three CDs from The Offspring, you insensitive clod!

Re:don't worry (0)

Anonymous Coward | more than 5 years ago | (#24098401)

I have two, and call them boldy and mary

Re:don't worry (1)

Stormwatch (703920) | more than 5 years ago | (#24098823)

Bullshit. No one buys CDs anymore.

Re:don't worry (2, Informative)

Anonymous Coward | more than 5 years ago | (#24100339)

But when people still listened to The Offspring, CDs were popular.

GNAA Penis Rocket To The Moon Project 8===D (-1, Troll)

Anonymous Coward | more than 5 years ago | (#24098157)

Re-Elect Mayor Penis Bird writes
"While the State of California was masturbating to guitar hero and slinging their fat Wii arms, their government was busy masturbating with taxpayer funds as the roads turned to rubble and the people turned to dumpster diving, buying bikes and scooters to fit into the plan of "crushing the poor between rich SUVs" Katrina style, while laughing in Snoppy sunglasses, pouring snow cones into their rectums. Mayor Penis Bird of the GNAA strongly recommended Tuesday against public participation in the government's, "Try your genes on for half price or free" weekend. "This is a great change for them to get your DNA under the guise of finding out about yourself." Mayor Penis Bird declared. "I'll have no part of it!"

Mayor Penis Bird ended his commentary by inviting the public to the sixth Gay Nigger bake sale to raise money for GNAA's Penis Rocket To The Moon Project. "When this penis rocket launches, it will launch with the hope of every gay American. We're going to fuck the moon and out of it will pour forth our hybrid monsters to invade other countries and plunder them for oil while raising gas rates back on Earth to drum up support via psyops for the space invasions."

GNAA Penis Rocket To The Moon:
http://www.gnaa.us/penis-rocket-to-the-moon-project/gayniggerbakesale/ [www.gnaa.us]

Re:GNAA Penis Rocket To The Moon Project 8===D (-1, Offtopic)

Anonymous Coward | more than 5 years ago | (#24098219)

I thought penisbird quit the GNAA several years ago. You faggots are still around? Lmao.

checking for signs of corepirate nazi hypenosys (-1, Troll)

Anonymous Coward | more than 5 years ago | (#24098175)

your eyelids are getting heavy.... the lights are coming up all over now. conspiracy theorists are being vindicated. some might choose a tin umbrella to go with their hats. the fairytail is winding down now. let your conscience be yOUR guide. you can be more helpful than you might have imagined. there are still some choices. if they do not suit you, consider the likely results of continuing to follow the corepirate nazi hypenosys story LIEn, whereas anything of relevance is replaced almost instantly with pr ?firm? scriptdead mindphuking propaganda or 'celebrity' trivia 'foam'. meanwhile; don't forget to get a little more oxygen on yOUR brain, & look up in the sky from time to time, starting early in the day. there's lots going on up there.

http://news.google.com/?ncl=1216734813&hl=en&topic=n
http://www.nytimes.com/2007/12/31/opinion/31mon1.html?em&ex=1199336400&en=c4b5414371631707&ei=5087%0A
http://www.nytimes.com/2008/05/29/world/29amnesty.html?hp
http://www.cnn.com/2008/US/06/02/nasa.global.warming.ap/index.html
http://www.cnn.com/2008/US/weather/06/05/severe.weather.ap/index.html
http://www.cnn.com/2008/US/weather/06/02/honore.preparedness/index.html
http://www.nytimes.com/2008/06/01/opinion/01dowd.html?em&ex=1212638400&en=744b7cebc86723e5&ei=5087%0A
http://www.cnn.com/2008/POLITICS/06/05/senate.iraq/index.html
http://www.nytimes.com/2008/06/17/washington/17contractor.html?hp
http://www.nytimes.com/2008/07/03/world/middleeast/03kurdistan.html?_r=1&hp&oref=slogin

is it time to get real yet? A LOT of energy is being squandered in attempts to keep US in the dark. in the end (give or take a few 1000 years), the creators will prevail (world without end, etc...), as it has always been. the process of gaining yOUR release from the current hostage situation may not be what you might think it is. butt of course, most of US don't know, or care what a precarious/fatal situation we're in. for example; the insidious attempts by the felonious corepirate nazi execrable to block the suns' light, interfering with a requirement (sunlight) for us to stay healthy/alive. it's likely not good for yOUR health/memories 'else they'd be bragging about it? we're intending for the whoreabully deceptive (they'll do ANYTHING for a bit more monIE/power) felons to give up/fail even further, in attempting to control the 'weather', as well as a # of other things/events.

http://www.google.com/search?hl=en&q=weather+manipulation&btnG=Search
http://video.google.com/videosearch?hl=en&q=video+cloud+spraying

dictator style micro management has never worked (for very long). it's an illness. tie that with life0cidal aggression & softwar gangster style bullying, & what do we have? a greed/fear/ego based recipe for disaster. meanwhile, you can help to stop the bleeding (loss of life & limb);

http://www.cnn.com/2007/POLITICS/12/28/vermont.banning.bush.ap/index.html

the bleeding must be stopped before any healing can begin. jailing a couple of corepirate nazi hired goons would send a clear message to the rest of the world from US. any truthful look at the 'scorecard' would reveal that we are a society in decline/deep doo-doo, despite all of the scriptdead pr ?firm? generated drum beating & flag waving propaganda that we are constantly bombarded with. is it time to get real yet? please consider carefully ALL of yOUR other 'options'. the creators will prevail. as it has always been.

corepirate nazi execrable costs outweigh benefits
(Score:-)mynuts won, the king is a fink)
by ourselves on everyday 24/7

as there are no benefits, just more&more death/debt & disruption. fortunately there's an 'army' of light bringers, coming yOUR way. the little ones/innocents must/will be protected. after the big flash, ALL of yOUR imaginary 'borders' may blur a bit? for each of the creators' innocents harmed in any way, there is a debt that must/will be repaid by you/us, as the perpetrators/minions of unprecedented evile, will not be available. 'vote' with (what's left in) yOUR wallet, & by your behaviors. help bring an end to unprecedented evile's manifestation through yOUR owned felonious corepirate nazi glowbull warmongering execrable. some of US should consider ourselves somewhat fortunate to be among those scheduled to survive after the big flash/implementation of the creators' wwwildly popular planet/population rescue initiative/mandate. it's right in the manual, 'world without end', etc.... as we all ?know?, change is inevitable, & denying/ignoring gravity, logic, morality, etc..., is only possible, on a temporary basis. concern about the course of events that will occur should the life0cidal execrable fail to be intervened upon is in order. 'do not be dismayed' (also from the manual). however, it's ok/recommended, to not attempt to live under/accept, fauxking nazi felon greed/fear/ego based pr ?firm? scriptdead mindphuking hypenosys.

consult with/trust in yOUR creators. providing more than enough of everything for everyone (without any distracting/spiritdead personal gain motives), whilst badtolling unprecedented evile, using an unlimited supply of newclear power, since/until forever. see you there?

"If my people, which are called by my name, shall humble themselves, and pray, and seek my face, and turn from their wicked ways; then will I hear from heaven, and will forgive their sin, and will heal their land."

meanwhile, the life0cidal philistines continue on their path of death, debt, & disruption for most of US. gov. bush denies health care for the little ones;

http://www.cnn.com/2007/POLITICS/10/03/bush.veto/index.html

whilst demanding/extorting billions to paint more targets on the bigger kids;

http://www.cnn.com/2007/POLITICS/12/12/bush.war.funding/index.html

& pretending that it isn't happening here;

http://www.timesonline.co.uk/tol/news/world/us_and_americas/article3086937.ece
all is not lost/forgotten/forgiven

(yOUR elected) president al gore (deciding not to wait for the much anticipated 'lonesome al answers yOUR questions' interview here on /.) continues to attempt to shed some light on yOUR foibles. talk about reverse polarity;

http://www.timesonline.co.uk/tol/news/environment/article3046116.ece

Important caveats (5, Informative)

redalertbulb (1321747) | more than 5 years ago | (#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 (4, Interesting)

stranger_to_himself (1132241) | more than 5 years ago | (#24098285)

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:Important caveats (1)

DriedClexler (814907) | more than 5 years ago | (#24101385)

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.

And if that's what you want, you should probably just go to a faith healer or psychic.

Re:Important caveats (2, Informative)

Anonymous Coward | more than 5 years ago | (#24099025)

http://www.snpedia.com

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

Re:Important caveats (3, Insightful)

ultranova (717540) | more than 5 years ago | (#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... (3, Insightful)

Kensai7 (1005287) | more than 5 years ago | (#24101155)

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 other words, it's not that the medical community that is "fiercely resistant", but because the questions that need to be answered are much more than percentages.

Re:Important caveats (1)

eli pabst (948845) | more than 5 years ago | (#24101279)

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 discovered later on. So while it's not a truly full genome sequence, they are still giving you some legitimately useful healthcare information. IMO, as long as they're upfront about informing people of what they're getting, I'm hesitant to brand them as snake-oil salesmen.

Use other resources to supplement data (0)

Anonymous Coward | more than 5 years ago | (#24101449)

Check out snpedia.com and look up the rs number. http://snpedia.com/index.php?title=SNPedia

You can figure out what disease you're susceptible to based on the rs number.

The "rs number" is the ID number for the "SNP" : the single nucleotide polymorphism.

No way in hell (5, Informative)

Biotech9 (704202) | more than 5 years ago | (#24098203)

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 (4, Interesting)

Nit Picker (9292) | more than 5 years ago | (#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 (5, Informative)

Cattus Curiosus (970543) | more than 5 years ago | (#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? (3, Informative)

Anonymous Coward | more than 5 years ago | (#24098217)

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

Re:Summary a bit biased? (4, Informative)

intx13 (808988) | more than 5 years ago | (#24098779)

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 they be sent to a doctor isn't privacy (2, Interesting)

MaizeMan (1076255) | more than 5 years ago | (#24099631)

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:Requiring they be sent to a doctor isn't privac (2, Interesting)

Thiez (1281866) | more than 5 years ago | (#24099969)

> 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?

Re:Summary a bit biased? (1)

jr76 (1272780) | more than 5 years ago | (#24101431)

Ugh. WRONG.

They're forcing doctors to be the ONLY ones doing the tests themselves (which is a completely standardized and automated process, which a monkey can do).

It has zero to do with privacy, which was recently protected by a federal bill.

What it's all about is (a) the medical community (doctors) cashing in on a new market (they can charge and gain a lot more profit if they're all busy doing these automated lab tests) and (b) trying to find a way to gain this data back to the insurance companies so they can deny you for coverage (through some loophole)

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?

People keep on forgetting that these test are never set as a be-all, end-all for probable medical conditions and therefore you use this as a stepping stone to check out things further.

I can understand if they were falsely advertising themselves as a substitute to the ultra-stringent high-end tests used for serious conditions, but as long as they aren't, this is anti-american as it gets.

What's next? Having only automotive engineers be the only people who can run the automated air quality tests you have to do in your respective states?

It's the SAME DAMN THING!!!

Re:Summary a bit biased? (1)

GNUman (155139) | more than 5 years ago | (#24101817)


Playing Devil's Advocate here.

The automated process can give you a profile of your genes, and indeed it only takes a lab technician to do it.

However the results need to be interpreted, it is not a straightforward response (except for some very specific mutations for "simple" diseases), hypertension, diabetes, and other complex diseases are not only based on your genotype, but also highly dependent on your environment.

It is not a standardized reading like the pollutants coming out of your exhaust pipe.

Having the results delivered directly to the patient without a doctor helping them interpret them may cause the patient to take actions that might even trigger the disease for which he is genetically predisposed but would not have expressed otherwise.

Out of the Devil's Advocate role, I agree with you, if you want to know your genotype, it is yours and you should have the right to have it done where you want (just hope they have very good QC! Don't want to get your genotypes wrong!).

It is up to you if you want to play doctor or have it done by a real one with a geneticist training.

----
Done

Requiring licenses... (1)

mi (197448) | more than 5 years ago | (#24102101)

What's next? Having only automotive engineers be the only people who can run the automated air quality tests you have to do in your respective states?

On a similar note, New York's government has recently tried to pass a law requiring licensing for the people operating air-quality monitoring devices [nytimes.com]:

Our mutual goal is to prevent false alarms and unnecessary public concern by making sure that we know where these detectors are located and that they conform to standards of quality and reliability.

See? It is all for our own good. Don't you worry your pretty little head and let the (licensed) professionals do their jobs. And when/if the Executive government decides to withdraw a license of some of the operators, it can do that — without the hurdles of going through the Judiciary — just as it can already do with the drivers' licenses. (What an invention that was!)

All my Genes are slightly unusual... (4, Funny)

hyperz69 (1226464) | more than 5 years ago | (#24098221)

I shop at the Levi Irregular Outlet. Good prices!

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

Pascoea (968200) | more than 5 years ago | (#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.

Re:All my Genes are slightly unusual... (1)

smooth wombat (796938) | more than 5 years ago | (#24100043)

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.

Re:All my Genes are slightly unusual... (1)

zippthorne (748122) | more than 5 years ago | (#24101883)

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

And learn to hem, you lazy bastard.

DIY? Really? (3, Insightful)

FlyingBishop (1293238) | more than 5 years ago | (#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.

You're Missing the Point (3, Insightful)

MaizeMan (1076255) | more than 5 years ago | (#24099755)

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 SHOULD do it. It's that these techniques have become simple enough and cheap enough that people who are sufficiently interested can do this at home. It's the same reason people install Linux on their toasters, or mod a 360 into a laptop, not because the end result is that useful, but because it's so cool that they CAN.

You went to hollywood upstairs medical college to? (1)

HungryHobo (1314109) | more than 5 years ago | (#24098245)

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.

Re:You went to hollywood upstairs medical college (0)

Anonymous Coward | more than 5 years ago | (#24099729)

I would approach such genetic testing with caution if the health care provider (or service) isn't going to provide a lot of education about your risk factors and how to interpret your results.

Last year, I participated in a medical study to find out what patients' reactions would be to genetic testing http://www.nih.gov/news/pr/may2007/nhgri-03.htm [nih.gov] . Education was a key part to interpreting the results. It helped you understand your risk factors.

The genes the NIH tested were largely offset by lifestyle choices--exercise, diet, etc.

Trust me, I went through a whole range of emotions--intrigue, anxiety, curiousity. Hey, it even got our family to talk about our medical histories. By the time I got my results, there were no surprises.

Re:You went to hollywood upstairs medical college (1)

stranger_to_himself (1132241) | more than 5 years ago | (#24101313)

One of the main problems is the education they give you is usually along the lines of 'Well it seems your genes say you and your children will die unless you buy our patented combination of nutritional supplements'.

On a personal note, I'm interested to know if knowing your genotype has changed your life or lifestyle in any way?

Online Genetic Testing = Scam (4, Interesting)

Lazy Jones (8403) | more than 5 years ago | (#24098277)

Re:Online Genetic Testing = Scam (0)

Anonymous Coward | more than 5 years ago | (#24098327)

I didn't see anything in there that actually says why it is a scam. Just some complaining about the privacy issues and skepticism about the relevancy of genetics, but no actual reasoning and proof.

Re:Online Genetic Testing = Scam (4, Informative)

stranger_to_himself (1132241) | more than 5 years ago | (#24098427)

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.

How to do it the cheap easy way: (2, Funny)

julian67 (1022593) | more than 5 years ago | (#24098341)

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.

Re:How to do it the cheap easy way: (1)

ScentCone (795499) | more than 5 years ago | (#24098851)

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 see how many of them could survive a week in the woods, or make (even with an open source recipe) one squirrel pot-pie that starts out with a live squirrel.

Re:How to do it the cheap easy way: (2, Funny)

ColdWetDog (752185) | more than 5 years ago | (#24100461)

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.

Re:How to do it the cheap easy way: (0)

Anonymous Coward | more than 5 years ago | (#24100573)

Too close to home huh?

That said, generally people who fit the description being made fun of are less bothered by it than people close to those who fit it. So I'm guessing it's a fair description of your wife - though it's surprising really that you don't fit the description too given you both share the same parents.

Re:How to do it the cheap easy way: (1)

ScentCone (795499) | more than 5 years ago | (#24101205)

That said, generally people who fit the description being made fun of are less bothered by it than people close to those who fit it. So I'm guessing it's a fair description of your wife - though it's surprising really that you don't fit the description too given you both share the same parents.

There we go! That's perfect! I knew I could count on slashdot to come through.

Actually, what I'm really enjoying is the tremendous irony of YOU feeling like my comment hit too close to home, and then acting out the part of the snarky, class-baiting hypocrit perfectly. Fantastic. Your tribe is proud of you, no doubt.

Yus (0)

Anonymous Coward | more than 5 years ago | (#24098379)

Now I can find out before the fact whether blasting myself with radiation will kill me or awaken my superhero abilities.

you can get tested, no big deal (4, Interesting)

circletimessquare (444983) | more than 5 years ago | (#24098391)

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

Re:you can get tested, no big deal (0)

Anonymous Coward | more than 5 years ago | (#24098515)

Although the state of the art in genetic testing is not reliable enough to make assessment for individuals yet.

Firstly, the actual test is not that great- even when you can normalise the raw data over a large study. Piecemeal tests will not be good.

Secondly, even the strongly associated genes are not probative on their own.

You can identify a risk gene using GWAS, but for any given individual you will typically get more accurate results from a case history.

Anyone- insurance company or individual- who makes any decision based on one of these tests is dumb.

not that i disagree with you (1)

circletimessquare (444983) | more than 5 years ago | (#24098575)

but i am already envisioning the late night infomercials

a little bit of knowledge + a lot of fear = $$$

"did you know that 1 out of 10 people are predisposed to diabetes genetically and don't even know it. you owe it to your loved ones to make sure that your genetic makeup is solid for their future. luckily at genestar, we have perfected the advanced diagnostic tests for your peace of mind. at some fancy genetic testing labs, they charge upwards of $1,500 for these kinds of tests. but at genestar, you can give your loved ones faith in their genetic lineage for only 3 easy payments of $49.95. act now, and we'll throw in the genetic test for alzheimers...

(quick lawyer speak voiceover) gene tests are not a replacement for sound medical advice. all genetic testing results should be discussed with a medical doctor"

Re:not that i disagree with you (1)

kjs3 (601225) | more than 5 years ago | (#24102847)

There are billboards around town for exactly this. You're undoubtedly right that infomercials are not far behind.

Re:you can get tested, no big deal (1)

Cattus Curiosus (970543) | more than 5 years ago | (#24101937)

brac gene (breast cancer)

I believe you intended to refer to BRCA1 [wikipedia.org] and BRCA2 [wikipedia.org]

you don't want this info getting to insurance companies

I could've sworn I saw a story here not too long ago about federal legislation banning insurance companies from discriminating against people on the basis of genetic testing. However, this factsheet [cancer.gov] from the National Cancer Institute indicates otherwise. If possible, it would seem testing yourself anonymously would indeed be prudent.

Re:you can get tested, no big deal (0)

Anonymous Coward | more than 5 years ago | (#24102289)

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

But please, avoid using a name like Ron Mexico. you don't want this info getting to anyone, lest you like being mistaken for Michael Vick.

Not a potential panic...honest! (1)

IBBoard (1128019) | more than 5 years ago | (#24098403)

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 (4, Funny)

needs2bfree (1256494) | more than 5 years ago | (#24098423)

Finally! A way to find out why I get green and big when I get angry!

Re:Superheroes (0)

Anonymous Coward | more than 5 years ago | (#24100989)

I'm guessing you were bitten by a big, green, angry, radioactive iguana?

the article is bullshit (5, Informative)

Polir (675291) | more than 5 years ago | (#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.

just laid that out there huh? (4, Insightful)

CupBeEmpty (720791) | more than 5 years ago | (#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.

Re:just laid that out there huh? (1)

philspear (1142299) | more than 5 years ago | (#24099707)

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.

Next step towards Gattaca (1)

dsvick (987919) | more than 5 years ago | (#24098649)

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...

Great for the entire family! (1)

soccerisgod (585710) | more than 5 years ago | (#24098701)

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 (4, Insightful)

Lhooqtoo (876551) | more than 5 years ago | (#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.)

How would you tell a significant other (1)

antifoidulus (807088) | more than 5 years ago | (#24098875)

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:How would you tell a significant other (2, Insightful)

Bieeanda (961632) | more than 5 years ago | (#24099077)

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:How would you tell a significant other (2, Funny)

bsDaemon (87307) | more than 5 years ago | (#24099523)

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 (1)

pragma_x (644215) | more than 5 years ago | (#24098985)

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?

Re:From TFA (1)

Hairy Heron (1296923) | more than 5 years ago | (#24099315)

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.

Re:From TFA (1)

philspear (1142299) | more than 5 years ago | (#24099815)

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.

Re:From TFA (1)

EmagGeek (574360) | more than 5 years ago | (#24100511)

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.

How to tell if you have abnormal genes? (0)

Anonymous Coward | more than 5 years ago | (#24098987)

There's an easy test-- if your hand is bigger than your face you have abnormal genes...

Would you use "alpha" version software? (3, Informative)

ponos (122721) | more than 5 years ago | (#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.

Pre-employment piss test: Part II (1)

Yarhajile (1150379) | more than 5 years ago | (#24099155)

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 problems YOU have, the less you will attempt to undermine OUR low standards by introducing your "perfect 23" culture. Maybe check back with us after some reverse gene therapy.

Sincerely, Mr. Asshat HR Dude

Look in the mirror (2, Funny)

blueforce (192332) | more than 5 years ago | (#24099247)

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

Problem with simple genetics in article (4, Informative)

LightPhoenix7 (1070028) | more than 5 years ago | (#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.

Ok this is awesome!! (1)

CRiMSON (3495) | more than 5 years ago | (#24099311)

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 (2, Insightful)

peter303 (12292) | more than 5 years ago | (#24099963)

Most abnormal genes arent expressed for unclear reasons. You just spend money on useless information and mental energy worrying about the results.

So I should return the PCR stuff I just bought? (2, Funny)

smakdaddy (1321851) | more than 5 years ago | (#24100305)

Hey is that a mutation in your genes or are you just happy to see me?

I wonder if I can by genotyped for free (2, Funny)

EmagGeek (574360) | more than 5 years ago | (#24100407)

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...

Hmm, genetic abnormality, eh? (0)

LM741N (258038) | more than 5 years ago | (#24101169)

1. sits in basement all day
2. eats nothing but junk food
3. consumes "energy drinks"
4. is an expert in Perl and hates Python
5. belongs to many mailing lists
6. has an excellent Slashdot Karma
7. Runs Slashdot

Lots of bashing, but... (1)

Pedrito (94783) | more than 5 years ago | (#24102091)

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 can find out (I checked, and the SNPs for the gene I'm looking for are covered). Given that it's took 7 years to find a medication that worked for one of my issues, nailing down the cause could end up saving me money in the long run (and if this had been available 7 years ago, might have saved me a lot of grief).

So, I'll grant, this isn't for everyone. The results are very hard for a lay person to interpret. But for some people, they could be quite handy.

Consumers and personalized medicine (2, Interesting)

dstates (629350) | more than 5 years ago | (#24102341)

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.

grossly inaccurate statement (0)

Anonymous Coward | more than 5 years ago | (#24102521)

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

This is egregiously incorrect and demonstrates a fundamental lack of understanding of the situation. If you think it's as easy as: "I have mutation A, so I need to do B, and then I will be cured of C" then you're sadly ignorant of the reality, unfortunately. (I wish it were that easy. I am an oncologist who works some with targeted therapies, which is what we are striving to achieve. But it is very complicated due to the reasons listed below, which in themselves are a gross simplification of the reality.)

  • Most disease states are not a binary situation. There are endless numbers of mutations, and we have a poor (or zero) understanding of what these various mutations mean. If there are 18 known possible mutations at a single point in a strand of DNA, is one better/worse than another? And what about the 32 at the next base pair down, and the 17 in the base pair after that? This is the concept of phenotypic variability.
  • With extremely few exceptions, we can't translate a genetic abnormality into a "risk for developing the disease." Many people develop disease due to spontaneous mutations.
  • Targeted genetic therapies can cost hundreds of millions of dollars to develop. Per abnormality. And it might be that a targeted therapy will only work on certain subsets of mutations.
  • There are very serious privacy concerns in terms of patient insurability that the law is still struggling with.

My butt has a hole in it... (0)

Anonymous Coward | more than 5 years ago | (#24102571)

in my jeans.
  Why such a weird question? Just look at parents, or gather the hearsay if you can't look. I am a splitting image of a dead grandfather. My parents from another universe. You could even study botany. A pink and blue flower made a red one... the red one two generations previoused, thought to be disappeared. So very simple.Anything is possible. Environment makes changes, the mysteries never seen. Bullcrap question done.

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