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Hunting Disease Origins By Whole-Genome Sequencing

timothy posted more than 4 years ago | from the motivation-defined dept.

Biotech 124

ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."

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Can of Worms? (2)

Darkness404 (1287218) | more than 4 years ago | (#31459060)

With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.

Plus, even then is there much we -can- do if we figure out something is genetic?

Re:Can of Worms? (1)

vistapwns (1103935) | more than 4 years ago | (#31459210)

So what are you saying, that we should never try to learn such things? Treatments will come after accurate diagnoses.

Re:Can of Worms? (3, Insightful)

WillDraven (760005) | more than 4 years ago | (#31459216)

Maybe not yet, but it sure is hard to begin fixing something before you know why it's broken.

Re:Can of Worms? (2, Informative)

thms (1339227) | more than 4 years ago | (#31459358)

genetic discrimination

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from. I don't see much of a problem there, especially since you can point at everyone and ask them with a sharp eye: "Are you sure you don't carry some expensive genetic screwup which can only be fixed by a $250,000 individual cure?"

Plus, even then is there much we -can- do if we figure out something is genetic?

Well, if you can derive how e.g. a protein folded wrong you might be able to find a drug which fixes that by attaching to that protein and shutting it down.

A more megalomaniac idea would be gene therapy: Inserting a retrovirus with a second strand of DNA into the cell.
That DNA could code for a correct protein sequence. Or, if the original protein sequence is harmful and needs to be suppressed, it could code for interfering RNA, i.e. RNA which intercepts the DNA's RNA and thus disables protein translation. Ah, wetware hacking!

Re:Can of Worms? (1, Insightful)

Anonymous Coward | more than 4 years ago | (#31459658)

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

You're not an american, I take it.

Re:Can of Worms? (1)

blackraven14250 (902843) | more than 4 years ago | (#31460606)

You're not a corporate shill, I take it.

Fixed that for ya

Re:Can of Worms? (-1, Flamebait)

DigiShaman (671371) | more than 4 years ago | (#31461134)

Hey asshole, maybe you want to look at the top most charitable countries around the world. Care to guess which country ranks #1?

http://en.wikipedia.org/wiki/Most_charitable_countries [wikipedia.org]

Re:Can of Worms? (1)

tuck182 (43130) | more than 4 years ago | (#31461262)

What, Sweden? Oh, you're not looking at the chart that adjusts for income, are you? When you consider that, the US is only #23.

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31461444)

And you're not looking at the chart that shows private philanthropy, are you?

Re:Can of Worms? (1)

DigiShaman (671371) | more than 4 years ago | (#31461450)

US ranks #23 on official development assistance while we rank #1 on private philanthropy as a percentage of GDP.

The latter shows true charity as it's optional while the former is not at the individual level, but through government.

Re:Can of Worms? (1)

pnewhook (788591) | more than 4 years ago | (#31461668)

If charity isn't a problem, why is guaranteeing access to healthcare a big controversy?

Re:Can of Worms? (1, Troll)

DigiShaman (671371) | more than 4 years ago | (#31461862)

Because it's fraud. The Healthcare as being discussed in Congress is nothing but a giant power-grab of epic proportions. If they were serious about healthcare reform (and we truly need it), they would scrap these bills and deal with laws already in place that cause high cost in the industry in the first place.

It's sort of like having a painter come in and paint your house. He did such a horrible job, yet you hired him again to fix what he messed up in the first place. That's exactly what's about to happen with regards to Healthcare reform in the US.

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31459858)

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence

True.

and which a caring society should insure you from.

Not true. Who said anything about a caring society? We have plenty of racists who think people should be responsible for uncontrollable traits, and racism has a stigma. This has no great social baggage. There are shitloads of people who think you're ability to receive healthcare should be just like your ability to receive a commodity like cars or toys, and if you need something special, that's your problem. If you die? Tough luck.

Re:Can of Worms? (0, Flamebait)

benjamindees (441808) | more than 4 years ago | (#31459998)

your genetic makeup is something you cannot influence and which a caring society should insure you from

$250,000

So, it's not enough that I have to pay for your economic failures, now.

I get to pay for your genetic defects as well?

Re:Can of Worms? (1)

Scrameustache (459504) | more than 4 years ago | (#31460006)

genetic discrimination

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence

Tell that to my lump of thorium!

Re:Can of Worms? (1)

CorporateSuit (1319461) | more than 4 years ago | (#31460060)

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from. I don't see much of a problem there, especially since you can point at everyone and ask them with a sharp eye: "Are you sure you don't carry some expensive genetic screwup which can only be fixed by a $250,000 individual cure?"

Tell that to someone with Turner's syndrome when they're trying to get insurance.

Re:Can of Worms? (1)

Xipe66 (587528) | more than 4 years ago | (#31460134)

Wow, how quaintly naive.

Re:Can of Worms? (1)

khellendros1984 (792761) | more than 4 years ago | (#31460336)

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

I'd disagree. You aren't being cynical enough. You don't think that there's someone who would say "They're contaminating the gene pool and shouldn't be treated at all!" ?

Re:Can of Worms? (3, Insightful)

GNUALMAFUERTE (697061) | more than 4 years ago | (#31460488)

They ARE contaminating the gene pool, and whether you like it or not, they should not be allowed to reproduce. Here's my idea: You want society's help? Get sterilized, and then we'll help you. We won't sterilize you forcefully, but if you want our help, that's our price.

In the past, weak people died, strong people lived, and eventually that lead us to where we are. Instinct brought us here, and It wasn't the instinct of the weak and diseased.

We, as a society, can help and fix the diseased, but doing that messes with evolution, effectively shutting it down. In today's society, the weakest, less intelligent and poorly educated reproduce more than the rest of us. Yes, there's a very funny movie about it that gets quoted just a little bit too often.

So, it's our duty to make up for that. We either stop treating them, stop giving them social help, etc. , or we help them fully, but make sure they don't reproduce.
It's either that, or face our own destruction a few centuries from now, when most of us will be a hoard of diseased and retarded individuals.

Re:Can of Worms? (3, Insightful)

Anonymous Coward | more than 4 years ago | (#31460556)

What if the gene pool that YOU choose to eliminate might save mankind one day?

http://en.wikipedia.org/wiki/Sickle-cell_disease
>Since the gene is incompletely recessive, carriers can produce a few sickled red blood cells, not enough to cause symptoms, but enough to give resistance to malaria.

Re:Can of Worms? (2, Funny)

blackraven14250 (902843) | more than 4 years ago | (#31460618)

What a fucking irony that would be.

Re:Can of Worms? (1)

psycho12345 (1134609) | more than 4 years ago | (#31461174)

Yeah this was covered in a Star Trek Voyager episode (Year of Hell). Guy fucked his own race by removing an immunity to a disease by fucking with the timeline.

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31461302)

Push forward enough in genetic research, and one day that issue will be irrelevant.

Imagine being able to alter your genes to resist disease as the need arises.

but consider the glory (1)

way2trivial (601132) | more than 4 years ago | (#31460558)

we'll have great hair!

Re:Can of Worms? (2, Insightful)

blackraven14250 (902843) | more than 4 years ago | (#31460632)

Or, maybe we could provide that $250,000 treatment to each other at a much more reasonable price in order to preserve a larger diversity of the gene pool, which is in the long run even better for humanity than forceful sterilization.

Re:Can of Worms? (2, Interesting)

GNUALMAFUERTE (697061) | more than 4 years ago | (#31460960)

Diversity is no good if there's no natural selection.

I'm not a racist, or a white supremacist, or any other crap, ok? To me, racism is utterly stupid. What 'race' you are doesn't have any kind of influence on the kind of person you are, except for the Check republic. In that case, I'm racist. They have the hottest babes in the world, and we need more of their genes (For the well being of our species, off course :D ).

But I'm genuinely concerned about the neutralizing of natural selection. I'm proud of my heritage. And I'm not talking about my parents, I'm talking about my great grandparents. I'm proud about the Pampas, and the Euskaldunak, and the French, and other people that long long ago are my parents too. And I'm very proud of some hominid that millions of years ago was a hunter-gatherer somewhere in Africa. I'm proud of being the son of some unicellular microorganism that lived in the depths of the oceans at the dawn of life in earth.

And I'm proud of them, because they all fought and died for us. We are here, because only the best of what was before made it into the future. We are all part of that collective consciousness.

We have the duty of doing our part in evolution. We have the world for ourselves, for a little while, and then we are gone forever, and we'll put the world in the hands of those that are unborn yet. Our purpose in life, is to make the best of that time we have, to return a better world to that collective consciousness. Only the very best, le crème de la crème, should perpetuate in what will be our next generation. Otherwise, we've failed as a species.

It's hard to accept, but that doesn't make it any less true.

If we kill natural selection completely, we are destined to disappear from the face of the planet.

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31461638)

Selection is still happening, albeit less naturally. You are correct that modern civilization has allowed the previously "weak" to not only live, but to reproduce. But it has also generated a greater degree of diversity and much greater numbers. If civilization crumbled tomorrow, the human death toll would be TREMENDOUS, but I bet that the population of humans that survive would be greater than the number of humans on Earth 20,000 years ago when we evolved into our most modern form.

So before you start drawing lines around people who shouldn't reproduce because their diluting the gene pool, ask yourself if you would have survived into adulthood without modern technology. Have you had appendicitis? Were you born by C-section? Ever have a bone or joint surgically repaired? The conditions requiring these treatments all had high fatality rates 200 years ago. Maybe cretins who want to regulate other people's reproductive rights shouldn't be allowed to breed?

Re:Can of Worms? (1)

GNUALMAFUERTE (697061) | more than 4 years ago | (#31461928)

I was born naturally, and at home. I never broke a bone, or underwent any kind of surgery. I haven't used any kind of medical services, or taken any kind of medications since I was a kid (under 15, when I left my parent's home, 11 years ago) and even back then it was only minor things for a cold. The biggest disease I've had in my life was a flu.

And guess what? NONE of that has ANYTHING to do with what I aid in my previous post.

I haven't said a thing against medicine, or against helping people that are sick. I was talking about curing dead. We all are affected by pathogens, accidents, and otherwise external factors. And fixing that seems reasonable.

On the other hand, some people are born in a state that is incompatible with life. Get that? I'm not saying "minor imperfection". I'm saying life-threatening conditions that would regularly cause immediate or very short term death, or conditions that would prevent the individual from surviving (such as a severe lack of cognitive abilities). This kind of conditions are genetic. That means that this people, and their offspring will probably require lifetime support by others in order to stay alive. That is what I call Christianity: A cult of the weak and diseased.

I'm not saying we have to kill this people, and I'm not saying we should not help them. Any such actions would be inhuman. What I'm saying is, just as we care for this individuals, we should care for the human race as a whole. To love another human and care for him/her, we first need to care for humanity itself. So, we should provide the required assistance to this individuals, while assisting our common interest too: Not perpetuating the debilitating features in this individuals. It's only logical.

And, let me tell you. If in the future, I have to die, I will. I will certainly NOT try to perpetuate my life by any means. Taking reasonable measures to stay alive is part of our instincts, and it's what keeps life going. Staying alive at all costs, even if that includes gargantuan facilities, larger than reasonable amount of resources, and the work of lots of other individuals just to have a chance of staying alive is unnatural, and destructive. Specially if it means you are perpetuating those weaknesses to future generations.

Re:Can of Worms? (1)

blackraven14250 (902843) | more than 4 years ago | (#31462142)

There is no "weakness" to "perpetuate to future generations" if people would provide the $250,000 nearly-instant genetic cure for a cost a normal person could afford. You're essentially arguing to avoid helping people with "genetic defects" until they get sterilized, at which point we'll eliminate their "genetic defect" completely (other threads have mentioned viruses to inject DNA to replace these "bad genes" or counteract our DNA with custom RNA) so that they just got sterilized for no reason whatsoever (other than to preserve your genetic line from "contamination", you hypocrite!).

Re:Can of Worms? (1)

KibibyteBrain (1455987) | more than 4 years ago | (#31461850)

But who can say what is best to have? Someone with a horrible genetic disease might be made immune to some future superbug by that condition, and therefore this "diseased" line would be more fit than any other. Likewise, they may require far less food energy to live than the average human, making them fit for some sort of future global famine an Olympic medalist with a Ph.D. in Physics might not make it through.
Traits modern humans seem to value like excess intelligence may not be beneficial in survival scenarios beyond the already high intelligence of pre-history homo sapiens sapiens, but other unpredictable factors may be.

Re:Can of Worms? (1)

GNUALMAFUERTE (697061) | more than 4 years ago | (#31461960)

Just as I don't mind dying if that's what needs to happen, and if staying alive would mean trading in my dignity, I don't mind the whole of our species vanishing if it's what's bound to happen, and changing that would require loosing our dignity as species. Our intelligence and precise motor skills are our higher achievements. If surviving as a species means loosing that, If it's ONLY about surviving at any cost, cockroaches are better at that than any member of our society. I'd rather just go and leave just surviving to the insects.

You are an imbecile, and I have proof. (0, Informative)

Anonymous Coward | more than 4 years ago | (#31462514)

Evolution has been going 100 times faster in the last 10,000 years than in the long, tedious years before it during which we let our "weak" people die because we hadn't invented medicine more advanced than "lie down and hope you get better soon." http://discovermagazine.com/2009/mar/09-they-dont-make-homo-sapiens-like-they-used-to/article_view?b_start:int=0&-C= [discovermagazine.com]

Now, kindly turn in your keys at the door and never come back.

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31462832)

Spoken as a True German!

Re:Can of Worms? (3, Insightful)

Anonymous Coward | more than 4 years ago | (#31462854)

The entirety of your argument is based on a logical fallacy that there is some "obligation" that humans have towards evolution, which you keep repeating on and on. It carries with itself the idea that we are entirely capable of understanding the complexity of the ecosystem and we should actively intervene so that we don't "break" it in any way.

"Diversity is no good if there's no natural selection" - this argument, while it sounds nice and logically founded, is really not much more than a nicely-presented opinion. How do you know that diversity is "no good" if there's no natural selection? For what we know, humans are the first species that has allowed themselves to advance to a level where natural selection does not happen by predators. Which brings me to the point that "there's no natural selection" is an untrue statement - we still suffer from diseases and natural disasters. What's really naive in your argument however, is the fact that we simply don't know where the evolution will lead us as a species. You talk in a way that would suggest you can predict the future, and the way we're acting is "no good" for us and the future generations.

The irony here is that this inner need to care after the weaker and the sick, the desire to form relationships not based on a materialistic purpose and many other characteristics have allowed Homo sapiens to reach this civilizational and technological level - a level where someone, using a device that showcases the genius of the species, communicates through another medium that showcases the genius of the species, that this approach is wrong and "no good". What you're saying is fundamentally no different than the arguments touted by eugenicists in the twentieth century. It feels comfortable and good telling other people that they should be sterilized, in a way projecting your sense of superiority on them. That is, until it turns out that someone decides you should be sterilized as well.

Stop trying to decide other's fate based on your false sense of understanding the complexity of nature.

Natural selection is still with us. (1)

Uncle Tractor (1736514) | more than 4 years ago | (#31462868)

Don't worry about natural selection; it's still killing us. While it's true that we're no longer being eaten by giant bears and saber-tooth tigers, we have a bunch of new things that can kill us, like traffic, drug addiction, and modern warfare. Also, the old killers like disease and famine never went away. Modern society probably puts different selective pressures on us, but we still have to adapt to our surroundings.

Re:Can of Worms? (3, Informative)

Hazelfield (1557317) | more than 4 years ago | (#31463034)

I can't believe this got modded insightful. Even without the racist insinuations, it's just plain wrong.

First, evolution does not have a purpose, and we surely don't have a "duty of doing our part in evolution". Evolution is just a natural process. Saying we have a duty to evolution makes about as much sense as saying we should stop building airplanes because we're neglecting our duty to gravity.

Second, the idea that we need to "weed out" the undesired traits in the human species is wrong because evolution does not work that way. Major changes in the genome generally happen within small, isolated populations. With such a huge population as humans on Earth is, evolution will be an extremely slow process. The gene pool will be mixed and mingled and these undesired traits will come and go.

Third, it's not clear what would represent "good" and "bad" traits (let alone genes) in humans. For example, people suffering from sickle-cell disease are more resistant to malaria. It would also be extremly difficult and costly to determine which genes are good and which are bad. Evolution, on the other hand, doesn't care. It only cares about if the genes are good enough to let the individual survive and reproduce. For this reason, eugenics is generally considered a pseudoscience.

Fourth, and I really shouldn't have to mention this, no one in their sane mind wants a government that gets to decide who can reproduce and who can't. If you don't see why this is a bad idea, then maybe YOU should refrain from breeding because we surely don't want anyone who lacks imagination to reproduce, right?

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31463038)

memes > genes. evolution has a lot of dead ends - dinosaurs were strong but not intelligent enough. Do Stephen Hawking's genes, though weak, help us to predict and adapt to sudden catastrophic environmental change? Do Newton's memes (because he was childless) have more of an effect on the world than genghis khan's, whose descendants may have a genetic predilection for the math Newton created?

In other words, we need to stop overbreeding, but across the board, the strongest are no guarantee of long-term survival fitness; the evolutionary record is clear on that point.

Re:Can of Worms? (2, Interesting)

thms (1339227) | more than 4 years ago | (#31461098)

Ah, slashdot. I make one dream-eyed, hopeful, but ultimately naive (I admit) comment and everyone jumps on it. I originally only wanted to comment on the "how to fix it?" question but thought a bit of optimism to prefix that might not harm :)

On to this comment which irks me:

[..]contaminating the gene pool [..] Instinct brought us here [..] fix the diseased, but doing that messes with evolution [..] In today's society, the weakest, less intelligent and poorly educated reproduce more than the rest of us [..] make sure they don't reproduce. [..] It's either that, or face our own destruction a few centuries

What the fuck?! And I mean this in a truly perplexed if slightly disgusted way. Humans are animals, true, but we are the first animals which can transcend that fact. You think that since we come from the mud, we will always stay there. Not much higher than Bacteria there.
It won't be long and not just treating, but even curing genetic disorders will be possible, i.e. directly fixing them in the germline. Evolution is a really bad method to improve a design unless you are totally lost and don't know where to start. And not only messy, but often cruel to the unwilling participants.

So on the long run, fuck evolution and our messy DNA, humans are now defined by the sentience which emerged, not by the biological substrate which for now still binds us. We can very well carry our own weight in the future. And before you ask, I am not a follower of the Singularity Ersatz religion, just not a downright pessimist.

P.S.: Obligatory xkcd about the movie you mentioned and the fatal cultural impact it has: http://xkcd.com/603/ [xkcd.com]

Re:Can of Worms? (0, Redundant)

Ja'Achan (827610) | more than 4 years ago | (#31462432)

Humans are animals, true, but we are the first animals which can transcend that fact.

I see that way too often. Just because we know how to fly a plane, doesn't mean we are no longer in any way bound to the forces of nature.

Re:Can of Worms? (1)

DrFalkyn (102068) | more than 4 years ago | (#31462466)

I assume you're opposed to antibiotics? Sunscreen? Clothing? Humans have made all types of adaptations to cover for our "genetic weaknesses".

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31462524)

Too late. Things like IVF (http://en.wikipedia.org/wiki/In_vitro_fertilisation) have been contaminating the gene pool for decades already...

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31462546)

The fact that this is modded 'funny' is the only thing that I can hold on to.

This line of thought is so incredibly hetronormative that I'm glad we didn't have the technology to enact it before now, otherwise we never would have made it out of the Iron Age. Just... no.

Re:Can of Worms? (1)

baKanale (830108) | more than 4 years ago | (#31460370)

genetic discrimination

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence...

Coldhearted persons discriminate all the time based on something as arbitrary as the color of a person's skin, a trait encoded in your genetic makeup with you cannot influence. And that's not even when they stand to make money off of it, either.

Re:Can of Worms? (1)

jamesh (87723) | more than 4 years ago | (#31460600)

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

I agree with that. Knowing that you might carry a defective gene, you can make a decision about if you are going to have kids or not though. I don't have an answer for this, but if you are aware that there is an x% chance of passing on some serious defect to your children, where x is above some magic threshold, should you expect a caring society to insure your family anyway? Taking it another step further, if mandatory genetic scanning[1] of your unborn child shows that has some serious defect, what should happen if you choose to proceed with the pregnancy?

These are all things we need to have a think about because the technology to do it will be around sooner or later and it's a fairly safe bet that the insurance companies will try and push legislation in their favour.

[1] yes I know this doesn't exist yet, and without some magic answer to the questions above it probably shouldn't, but it raises an uncomfortable issue.

Re:Can of Worms? (2, Interesting)

sjames (1099) | more than 4 years ago | (#31461412)

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

The problem is that HR policies don't have hearts at all. The very name Human Resources sounds like a euphemism. Frankly, there are plenty of corporations out there that would happily toss babies into a wood chipper if there was any profit in it.

Worms are for fish and birds (1)

nido (102070) | more than 4 years ago | (#31462304)

Humans use their minds to recognize traps. There aren't a lot of us who know how to avoid the 'genetics' hook, but it is possible...

I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence

I may be the most coldhearted person you'll never meet (the man who used to train mercenaries said I missed my true calling), and I do a damn good job of influencing my genes.

DNA Is Not Destiny [discovermagazine.com] (Discover Magazine)
Why Your DNA Isn't Your Destiny [time.com] (Time Magazine)

Why do some people with the "bad gene" develop a given disease, while other people do not? Epigenetics FTW! :)

Eat right, productively deal with your stress, balance your nervous system [slashdot.org] , indulge in creativity, etc, and you won't have to worry about your genes.

Re:Can of Worms? (2, Informative)

virtualXTC (609488) | more than 4 years ago | (#31459990)

With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation. Plus, even then is there much we -can- do if we figure out something is genetic?

Sad you were modded flamebait for voicing honest concerns. Good thing you were the FP.

Genetic discrimination is already illegal in the US.

Understanding that a disease is genetic DOES allow us to do something. Take pompe disease [wikipedia.org] for instance, there are now 2 possible ways of treating it that we were able to derrive from our genetic understanding. The first, and most obvious; make the protein that is deficient in the patients with the disease and administer it to them. The second; now that we know the cause of the disease, find a small molecule that restores function to the mutated protein (or potentially further up stream: allows the mRNA to fold properly).

Re:Can of Worms? (2, Informative)

Thng (457255) | more than 4 years ago | (#31460012)

Genetic Information Nondiscrimination Act (GINA) [gpo.gov]

from Newscientist: "After more than a decade of political debate, GINA bans health insurers from setting premiums or denying coverage based on the results of genetic tests, as long as customers have no pre-existing disease symptoms. It is also aimed to prevent discrimination in employment decisions."

Discrimination still could happen, but there appears to be a bit of a framework to work against it.

Re:Can of Worms? (1)

Darkness404 (1287218) | more than 4 years ago | (#31460410)

...And discrimination is illegal based on race but that doesn't stop racial discrimination does it? Discrimination in a lot of forms was illegal during segregation, yet you would hardly consider it discrimination free.

Re:Can of Worms? (1)

Daniel Dvorkin (106857) | more than 4 years ago | (#31460498)

And discrimination is illegal based on race but that doesn't stop racial discrimination does it?

There is demonstrably less racial discrimination now, at least in business and governmental dealings, than there was before various civil rights laws prohibiting were passed. Of course it's not a perfect solution, but it's better than it was, and we can continue to make it better still.

Discrimination in a lot of forms was illegal during segregation, yet you would hardly consider it discrimination free.

If by "segregation" you mean the Jim Crow era, that was a period when discrimination was mandated by law. Do you really think that we're going to pass laws requiring that people with certain alleles of certain genes use separate bathrooms, or sit at the back of the bus?

Re:Can of Worms? (3, Funny)

blackraven14250 (902843) | more than 4 years ago | (#31460640)

For the bathrooms, we do discriminate based on a specific genetic difference right now.

Re:Can of Worms? (1)

TubeSteak (669689) | more than 4 years ago | (#31461150)

For the bathrooms, we do discriminate based on a specific genetic difference right now.

When a dude feels strongly enough to get his dick cut off in a sex change operation, society tends to treat the individual as a female despite 'his' XY chromosomes.

Which bathroom you use is more about sexual identity and appearance than genetics.

Re:Can of Worms? (2, Informative)

moogied (1175879) | more than 4 years ago | (#31460050)

Wow, I don't often to get to use the same post twice.. but uh, they passed a law making genetic discrimination illegal in America.

Re:Can of Worms? (1)

Daniel Dvorkin (106857) | more than 4 years ago | (#31460394)

Genetic discrimination is a worry, of course, but the risk of it is far outweighed by the benefits which understanding the role of genetics in human health offers. And the Genetic Information Nondiscrimination Act (GINA) [genome.gov] is actually a pretty good law.

As for the medical usefulness of genetics ... warfarin (Coumadin) is one of the most widely used clot-busting drugs in the world, and IIRC this [nejm.org] has now been incorporated into the dosage guidelines. It isn't quite the same as actually curing a genetic disease, of course, but it is an important advance which has the potential to save a lot of lives.

Re:Can of Worms? (1)

FatdogHaiku (978357) | more than 4 years ago | (#31460544)

With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.

Plus, even then is there much we -can- do if we figure out something is genetic?

That seems to be a really short sighted view. Once you find the major problems and prevent people with those from passing the "bad data" on to their children the burden on both the family and society drops off sharply. True, there may at first be some people that can't bred with certain other people, or maybe even should not bred at all... I would think that if gene therapy is going to benefit us it would be easiest to apply at the "one egg, one sperm" level rather than trying to modify a complete human...

Centuries of domestication in animals has shown us that with enough time we can express desired results. Nothing is perfect at first, as I'm sure the people that died trying to domesticate cattle would attest. It doesn't mean we should not try to improve the conditions under which we exist.

Re:Can of Worms? (0)

Anonymous Coward | more than 4 years ago | (#31460762)

That's the most boring, predictable, and utterly BORING thing I've heard anyone say.

Re:Can of Worms? (1)

im_thatoneguy (819432) | more than 4 years ago | (#31461206)

With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.
Plus, even then is there much we -can- do if we figure out something is genetic?

That would certainly be the pessimistic outlook. One which could easily be legislated away with a ban on discrimination.

The positive outlook would be that instead of discriminating or paying for expensive therapies we could actually... you know... fix the defects or find more effective treatments which cost less to develop.

Re:Can of Worms? (1)

pnewhook (788591) | more than 4 years ago | (#31461248)

No. But I can see the day when a child with a genetic disease can sue his parents because given this technology they *should have known* offspring could inherit problems, therefore it is their actions can be considered willful harm.

Unless of course we build a rocket and fire all the lawyers into the sun.

Re:Can of Worms? (2, Interesting)

dAzED1 (33635) | more than 4 years ago | (#31461386)

genetic testing allowed me to know that I do indeed have a genetic disorder that causes a lack of an enzyme involved in the processing of l-dopa, causing me to frequently not have enough dopamine in my brain...giving me dopa-responsive dystonia, treated via the same thing Parkinson's suffers use (sinemet).

That being the case...I'm going to genetically discriminate myself, and get a vasectomy. I'd never wish this upon a child...not when we've since figured out that my father's lifetime non-drug-responsive hypertension is because of the same problem, just presenting differently. Do you have a genetic disorder? Unless you're part of the target audience, don't speak for us ;)

Re:Can of Worms? (1)

repapetilto (1219852) | more than 4 years ago | (#31461604)

Genetic disorders occur because of either over- or under-activity of whatever protein is encoded by the mutant gene. Once the gene is discovered it is possible to figure out the characteristics of the protein it encodes and treat with drugs that can counter the over activity by inhibiting the protein or counter the underactivity by mimicking or stimulating the protein.

Re:Can of Worms? (1)

physburn (1095481) | more than 4 years ago | (#31461786)

Well now, there be an easy test, for the disease, but no cure. But in principle finding the gene, does lead to a cure relavitively easierly. If the broken gene, needs to de activated then the physicians can use RNA interference to de activate the gene. I the broken gene, is something important missing then in principle, gene therapy, insertation of an other copy of the gene, using a retrovirus should cure the disease. I say in principle, neither RNA interference nor Gene therapy a proven technologies yet.

---

Genetic Engineering [feeddistiller.com] Feed @ Feed Distiller [feeddistiller.com]

scary part of TFA (1, Insightful)

Anonymous Coward | more than 4 years ago | (#31459198)

But cost-wise, personal genomes may not be far off. For example, Bird at the University of Washington says that a comprehensive genetic screen for inherited nerve diseases costs about $15,000. Researchers estimate that Lupski's genome cost about $50,000. And Complete Genomics, a startup in California that sequenced the family in Hood's study, will soon offer bulk sequencing services for about $20,000 a genome, with a $5,000 price tag not far behind.

How long before sequencing becomes part of a routine physical exam, and having the disease-prone genes becomes a pre-existing condition for health insurance purposes?

Re:scary part of TFA (1)

Darkness404 (1287218) | more than 4 years ago | (#31459244)

The scary part is, its pretty easy for them to get a sample of DNA for "drug" testing. Its quite sad how bad the paranoia is about it. ZOMG its so terrible to have someone take phone calls that may have used drugs!!!111!!11!1

Re:scary part of TFA (1)

benjamindees (441808) | more than 4 years ago | (#31460044)

You should be more clear. It's not just "drugs", it's illicit drugs. Pharmaceuticals are a-okay.

Re:scary part of TFA (1, Insightful)

Anonymous Coward | more than 4 years ago | (#31459268)

So instead of changing the corrupt health care system, you want to ban life-saving technologies? Get back to your third-world shithole. Americant.

Re:scary part of TFA (1)

thms (1339227) | more than 4 years ago | (#31459456)

[..] Americant.

You spelled A-merry-cunt wrong?

Also, I am not sure "LOL-Americans!"-comments are helping much with fixing healthcare or your foul mood and complexes. Better brag about how your own healthcare system rocks than throw insults.

Re:scary part of TFA (0)

Anonymous Coward | more than 4 years ago | (#31459822)

[..] Americant.

You spelled A-merry-cunt wrong?

Also, I am not sure "LOL-Americans!"-comments are helping much with fixing healthcare or your foul mood and complexes. Better brag about how your own healthcare system rocks than throw insults.

Apparently you misunderstood his post completely. He is taking the position that Americans are strong, and those who stand in the way of progress should move along. He is NOT taking the position that he is from another country and Americans are idiots.

Re:scary part of TFA (1)

pclminion (145572) | more than 4 years ago | (#31459320)

I don't think the problem is limited to gene sequencing. For instance, here in Oregon the insurance companies are required to provide coverage for certain types of smoking cessation treatment. However, you'd have to be an idiot to take them up on their offer, because as soon as you do, they know you are a smoker and will certainly jack your rates through the stratosphere. I wouldn't be surprised if the insurance companies actually backed that law.

Re:scary part of TFA (2, Insightful)

Idiomatick (976696) | more than 4 years ago | (#31460068)

Yeah, itd suck to have drugs individually tailored to your genes. They'd work like, way better. Plus you could get information on maldies that you might come across. Hell you may be able to work pre-emptively to avoid getting them.

Honestly there are tons of reasons why this is a GOOD THING.

Re:scary part of TFA (1)

virtualXTC (609488) | more than 4 years ago | (#31460112)

Less than 3 yrs before it's feasible; more than 7 due to public backlash.

Re:scary part of TFA (2, Insightful)

Daniel Dvorkin (106857) | more than 4 years ago | (#31460448)

People in the sequencing biz talk about the "thousand dollar genome" as kind of the magic number, and the consensus is that we can expect to get there in five years or so. At that point, yes, it will be a routine part of everyone's medical record. As for discrimination, the best we can do is guard against it; the Genetic Information Nondiscrimination Act (GINA) [genome.gov] is a very good start. There is no way in hell that we are going to turn our backs on the enormous medical potential of cheap, nearly universal sequencing because of fears cobbled together -- as most anti-genetics rants seem to be -- out of massive ignorance and half-remembered ideas picked up from Frankenstein, Jurassic Park, and Gattaca.

Re:scary part of TFA (2, Interesting)

jeff4747 (256583) | more than 4 years ago | (#31460454)

How long before sequencing becomes part of a routine physical exam, and having the disease-prone genes becomes a pre-existing condition for health insurance purposes?

That depends.

If the Democrats manage to pass health care reform, there will no longer be any "pre-existing conditions" so the question is moot.

If the Republicans manage to stop health care reform, it'll take 10 minutes.

(Actually there's a law against using genetic tests to set insurance rates, but I wanted to get a little snark in)

Sequence plus a lot of prior work (5, Informative)

jfengel (409917) | more than 4 years ago | (#31459386)

Your genome has a lot of differences from the reference genome. They narrowed down the differences based on a lot of previous work discovering genes linked to the disorder.

Only then were they able to zero in on precisely what gene in his specific genome caused the problem, and confirm it by testing other family members.

DIY (1)

pablodiazgutierrez (756813) | more than 4 years ago | (#31459420)

This brings the phrase "do it yourself" to a whole new level.

Re:DIY (1)

MichaelSmith (789609) | more than 4 years ago | (#31459676)

If you want something done right, do it yourself. I am not much interested in my genome, but the contents of my brain are of great interest to me, especially if they could be extracted onto other media.

Re:DIY (1)

Idiomatick (976696) | more than 4 years ago | (#31460076)

I read that as an odd suicide threat rather than scientific endeavour.

Re:DIY (1)

MichaelSmith (789609) | more than 4 years ago | (#31460372)

Recently my seizure disorder came back and I contemplated the possibility that there was something growing in my brain. Fortunately an MRI told me that there is nothing in there apart from normal brain stuff so I will be around for a while longer. But for a while I thought my only chance for long term survival would be a port to different hardware.

Ambiguous parsing (2, Interesting)

pablodiazgutierrez (756813) | more than 4 years ago | (#31459454)

What's this Hunting disease they talk about?

Re:Ambiguous parsing (2, Funny)

Em Emalb (452530) | more than 4 years ago | (#31459488)

You ever been to Alabama in the winter?

Re:Ambiguous parsing (0)

Anonymous Coward | more than 4 years ago | (#31461138)

Mod parent funny!

Re:Ambiguous parsing (3, Funny)

sjames (1099) | more than 4 years ago | (#31461496)

Also known as "Cheney's disease" [wikipedia.org]

Open Source Genomes? (0)

Anonymous Coward | more than 4 years ago | (#31459812)

They've sequenced a lot of diseases but they're keeping them secret because of HIPPA
Perhaps it's time to open source genomes so that many eyes can find the interesting stuff.
You may have a polymorphism that causes disease and you may not get insurance because of it but you and your children might benefit by a cure found by examining the data.
Which is better?

Re:Open Source Genomes? (1)

virtualXTC (609488) | more than 4 years ago | (#31460090)

George Church, one of the Professors interviewed in the article is doing just that: http://www.personalgenomes.org/ [personalgenomes.org]

The more interesting ones... (1)

Hurricane78 (562437) | more than 4 years ago | (#31460004)

...will be those they expect to find in the genes, but won’t. Like many of those so-called “age-related” diseases. Because then they have to admit it’s caused by the environment. Like the actually food-related group.

Obviously, (0)

Anonymous Coward | more than 4 years ago | (#31460316)

he uses Gentoo or LFS.

Compatible (0)

Anonymous Coward | more than 4 years ago | (#31460502)

Don't we share 99% of our DNA with monkeys? People share 70% DNA with bananas. I guess all that sharing makes us compatible.

Wow! (1)

hduff (570443) | more than 4 years ago | (#31460732)

My local paper had this story in today's edition. Are they getting better or is Slashdot getting, um, sluggish?

I'd like to offer my genome for sequencing (3, Interesting)

MichaelCrawford (610140) | more than 4 years ago | (#31460894)

If anyone can make a credible offer to sequence my genome, drop me a line at mdcrawford at gmail dot com and I'll arrange for you to get a sample of my DNA. I will gladly sign an informed consent that would permit you to release the lot of it publicly - you need not be concerned about issues of confidentiality. Really I would prefer it that way.

I have two distinctly different mental illnesses, a neurological condition that affects my brain, and a circadian rhythm disorder that more or less makes it impossible for me to hold any kind of nine-to-five job.

I have Bipolar-Type Schizoaffective Disorder, which is just like being Schizophrenic and Manic Depressive at the same time. That was diagnosed in 1985. I also have Obsessive-Compulsive Personality Disorder. That's quite a different thing than the more well-known Obsessive Compulsive Disorder (OCPD vs OCD). I was told of the diagnosis in 1994 but I have reason to believe the diagnosis was made long before, but my therapist chose to wait many years to give me the bad news.

The neurological condition is Attention Deficit Hyperactivity Disorder. I got that diagnosis in 2008. ADHD isn't taken very seriously by a lot of people, with some believing that it's not a real illness. It's no joking matter: I got the diagnosis in a psychiatric hospital where I committed myself rather than go off the Golden Gate Bridge as a result of my profound inability to focus on my work. I had been begging all manner of medical and mental health practitioners for help with it for ten years, but none of them had the first clue as to how to help me. It was only the shrink in 2008 who was able to make a real difference.

My circadian rhythm disorder is Delayed Sleep Phase Syndrome. It is the main reason I am a software engineer - my degree is in Physics, and not Computer Science. When I noticed that many of my programmer friends worked at night, I figured that being a coder would be the only way I would ever be able to hold a real job. All of my life I have slept during the day and stayed up all night. My mother said I was this way even when I was a newborn in the hospital.

My reason for wanting my genome sequenced is not at all to help myself, but to help others with my conditions. Besides understanding my various illnesses, I also want the medical community to figure out why I have done so well despite what would normally be a profound disability:

It is very, very rare for someone with Schizoaffective Disorder to live independently, let alone hold any kind of real job. I have a degree in Physics and have been a coder for twenty-two years. But most who share my diagnosis have to live off the disability check, be cared for by their families, spend their lives in institutions, or survive somehow on the streets, tormented by despair and madness.

There was a time when I was so hopelessly in the grip of my delusions that when God Almighty Himself sent me visions in the sky, I would photograph them. But when the pictures came back from the developer without my visions in them, I figured it was due to my inexperience as a photographer and not because those hallucinations were the products of my own demented imagination.

My hope is that by having my genome sequenced, I might not only ease the sufferring of others, but prevent a lot of otherwise needless suicides.

I am absolutely serious: mdcrawford at gmail dot com

Re:I'd like to offer my genome for sequencing (1)

im_thatoneguy (819432) | more than 4 years ago | (#31461096)

Wouldn't you be a terrible candidate since you have so many abnormalities? I would think that you would want to sequence someone with one very specific and very extreme case of a disease.

It's my will to live that I want identified (1)

MichaelCrawford (610140) | more than 4 years ago | (#31461126)

Schizoaffective disorder all by itself leads many to suicide. How is it that I could have all of these awful disabilities and even survive?

I have been through some profoundly awful times. During my early twenties I spent five years almost continuously suicidal. Yet somehow I made it through all that.

I have met many other schizoaffectives, but so far I have not met even one who is had been able to hold a job for any length of time.

Re:I'd like to offer my genome for sequencing (0)

Anonymous Coward | more than 4 years ago | (#31461686)

Personal Genome Project: http://www.personalgenomes.org/

looking for 100,000...

Re:I'd like to offer my genome for sequencing (0)

Anonymous Coward | more than 4 years ago | (#31462638)

You were able to concentrate long enough to type all that?

That was the Amphetamine typing, I'm afraid (1, Offtopic)

MichaelCrawford (610140) | more than 4 years ago | (#31462962)

Were I not taking several doses of powerful stimulants each day, I probably would have interrupted myself in the middle to go roller skating or something.

Stimulant treatment for ADHD gets a bad rap. It's commonly said that we are drugging our children just to get them through school. It's not that way; ADHD is treated with stimulants because they boost certain neurotransmitters in a way that overcomes most of the illness' debilitating effects. People with ADHD don't generally get high when we take stimulants. In my case, taking Amphetamine calms me down and enables me to write code productively. When my medicine is working particularly well, it gives me a rather lethargic, calm and almost sedated experience - during which I am able to write mountains of code.

OCPD is far worse than Schizoaffective Disorder (1, Interesting)

MichaelCrawford (610140) | more than 4 years ago | (#31462842)

One wouldn't think so - and I certainly didn't myself at first - because the symptoms of Bipolar Type Schizoaffective Disorder are so obvious, severe and quite commonly life-threatening: visual and auditory hallucinations, paranoia and delusions - in my case, I am constantly pursued by a shadowy law enforcement agency that I can see but you cannot. I call them The Thought Police, because they are the police inside my head, but ironically just knowing that you're paranoid doesn't make the paranoia go away. I fear The Thought Police like nothing else, because they come not to arrest me, but to kill me.

A symptom called "Flat Affect:" makes it nearly impossible to express emotion in any normal kind of way. It's not that I don't experience emotion - I very definitely do - but I am unable to show my feelings outwardly. My expression is always wooden, a poker face. It makes it very, very difficult to connect with other people, especially the opposite sex.

My most prevalent schizoaffective symptom is depression which is often profound and can be suicidal. I also experience a profoundly euphoric state called mania. One might think that it's not so bad because it is actually a very happy, joyful feeling, it is actually the worst of the schizoaffective symptoms because when I am manic, I am utterly and completely out of touch with reality. I am like a bull in a china shop. When I am manic, it is a matter for the police - lots and lots and lots of police.

But all of this pales in comparison with my Obsessive Compulsive Personality Disorder. One reason is that I understood from the very beginning that my schizoaffective disorder was bad and just why it was bad, so I was able to work from the very beginning to overcome it. But I had been in psytherapeutic and psychiatric treatment for twenty-four years before I was finally able to understand just how destructive my OCPD had been, not just to me, but to everyone that I cared about.

Simply being crazy is not so bad. There are many ways to cope, many ways to get by. What really is bad is to be crazy, yet completely unaware of it, Thus it was with me and my Obsessive Compulsive Personality.

I would be very grateful if you would read this short essay, it is just five pages or so:

Kuro5hin's undermyne said of me:

You, sir are a special kind of crazy. They may even name a type of crazy after you. People will no longer be called "odd" when they are batshit, self destructive crazy. They will be called "ogg".

I am grateful for all of your kind understanding.

Re:I'd like to offer my genome for sequencing (1)

Isaac-1 (233099) | more than 4 years ago | (#31462958)

Although not officially diagnosed (I don't see the point of spending a lot of money being diagnosed given the lack of effective treatment), I too show all the symptoms of DSPD, and feel there is likely a genetic component to this problem as my father suffers from what appears to be ASPD, and my son (now in his 20's) also shows many signs of a sleep phase disorder (he has done sleep studies, etc, but as yet with no official detailed results, other than acknowledgement of a problem). I have been lucky enough to find others who share my sleep patterns if not my exact condition, and have also found ways to cope with my problem while holding down a somewhat regular job. I sometimes wonder if the internet could possibly bring all of us night dwellers together so we could form our own physical community, one where businesses are open to fit our sleep cycles, one where doctors, dentist, etc. don't demand one shows up for appointments 5 hours before our natural waking times, one where as a parent we don't have to deal with notes from schools about how our children are having problems in classes that occur during the middle of their natural sleep cycle, etc. Can you imagine it, going to a restaurant while they are serving breakfast and not be half asleep, going to the grocery store and having more than one lane open, aisles not blocked by restockers and boxes, much more importantly other people there that don't look like zombies.

the (1)

Dunbal (464142) | more than 4 years ago | (#31461186)

First rule of medicine (well no, not really, it's probably down there around number 87) is "Thou shalt not brute force medicine".

Of course looking at medical shows, no wonder the public believes that the medical art consists of rattling off possible diagnoses at random and running tests until a magical positive result is found. And good for Dr. Lupski if he found a genetic cause for his disease. However after what was probably not a trivial expense, at the end of the day he went home knowing that, well, he had Charcot-Marie-Tooth disease. Er yeah, but he already knew that.

Above putative rule #87 is another rule: If a particular test will not change your diagnosis if it gives a positive (or negative) result, don't do the test. Because tests use up limited resources like paper, reagents, labs, money and time. And especially the patient (or his insurer) usually doesn't have an unlimited supply of these things. While as a doctor I could theoretically order every test in the world to rule out that the stuff oozing out of your nose is not caused by anything other than the common cold (cerebro-spinal fluid leaks, anyone?), the ART of being a doctor is making the RIGHT diagnosis and ordering the minimum RIGHT tests to confirm that diagnosis.

This is something that the medical community has forgotten, somewhere along the way through technological progress (read - lots of neat toys to play with) and defensive medicine (I did the tests so if I get sued I can prove that I thought of this). Of course going out and getting your whole genome sequenced will make lots of biotech companies very very happy. Of course once in a while someone somewhere will discover some condition they never knew they had. However firstly if it's in your genes there's not much you can do about it anyway except in very rare cases, and secondly exactly how much will this cost again? Maybe when the $5 genome sequencing is available this could be an option for mass screening, but for now - please, let's use some common sense. Especially when the costs of doing something like this are born by OTHER people - like in insurance or state run health care scenarios.

Just because you CAN do something doesn't necessarily mean you SHOULD do something. But hey, I'm just an aging family doctor, what do I know.

Re:the (1)

Profane MuthaFucka (574406) | more than 4 years ago | (#31461922)

This was not treatment of a disease. It was fundamental research into the causes of a disease. A much different kind of thing that what you're talking about.

Re:the (1)

acheron12 (1268924) | more than 4 years ago | (#31462564)

However after what was probably not a trivial expense, at the end of the day he went home knowing that, well, he had Charcot-Marie-Tooth disease. Er yeah, but he already knew that.

Yeah, but this wasn't a medical test, it was a scientific test. The goal was not to diagnose but to further basic research.

Speaking as an insider (2, Informative)

dorpus (636554) | more than 4 years ago | (#31461350)

I'm getting my PhD in a statistical genetics program.

The quality of "newly discovered genes" in the literature is very, very poor. Any scientific "discovery" should be replicated by other researchers, but that is not being done. Negative results rarely get published. Since we have tens of thousands of genes, one can find any number of genes that have a "significant association" with a given condition.

In reality, many diseases are known to have multiple origins. The same disease could be caused by entirely different genes in different people. And that's assuming it is a genetic condition, as opposed to other causes. Researchers have spent decades looking for genes that cause diabetes, but there is increasing evidence that diabetes is really caused by viral infections. In particular, type I diabetes was assumed to be genetic, but there is a fairly large amount of evidence that it is caused by viruses such as Coxsackie B4. The incidence of type 1 diabetes is increasing throughout the world, which cannot be explained by genetics.

To dispel a couple of other myths, genetic diseases are not always recessive. Many of them are dominant. Also, "bad" genes do not always get selected out of the gene pool; diseases that cause problems later in life, such as Alzheimer's, heart disease, Huntington's, happen after reproductive age and so there is no selection pressure.

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