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Genomic Medicine, Finally

Unknown Lamer posted about 9 months ago | from the sorry-you're-defective dept.

Medicine 64

Daniel Dvorkin writes "When I first started studying bioinformatics almost fifteen years ago (!) what drew me to the field was the promise that we might soon be able to provide effective, personalized treatments for a wide variety of diseases. There have been some successes along the way, like genetic tests for warfarin dosage, but for the most part our gains in understanding of basic biology haven't been matched by clinical advances. Now it looks like that is at long last about to change, and it's about time.

Too many people suffer and die from too many diseases that we more or less understand, but can't effectively treat. I hated it when I worked in hands-on patient care, and I hate it now in the lab. We are, finally, getting there."

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Try this (-1, Troll)

jmd (14060) | about 9 months ago | (#46432167)

www.forksoverknives.com and watch the documentary. :)

Then we'll get on with science.

Re:Try this (4, Insightful)

SlashdotWanker (1476819) | about 9 months ago | (#46432273)

Healthy long lives are a result of the combination of active lifestyles, good diet and the ability to remove sickness with the least amount of permanent damage. You can eat a genetically pure diet with perfect amounts of nutrients and still end up getting skin cancer. Medicine should not be your first stop to trying to be healthy but at the same time, It's necessary.

Re:Try this (1)

pepty (1976012) | about 9 months ago | (#46432913)

Tell that to Winston Churchill. I think genetics probably explains at least as much of the variance as lifestyle. That said, folks should have a look at the promises made by the first generation of companies that cashed in on the Human Genome Project and compare them to Venter's promises now.

Re:Try this (1)

phantomfive (622387) | about 9 months ago | (#46433591)

Tell that to Winston Churchill. I think genetics probably explains at least as much of the variance as lifestyle.

That's an interesting hypothesis. Do you have data to support your hypothesis, or just an anecdote of one guy who got lucky?

Re:Try this (1)

Anonymous Coward | about 9 months ago | (#46434131)

even if the only explanation of the only case that we have is 'he got lucky' that is still a deviation from 'lifestyle explains all' approach.
Btw: it may just be that our lifestyle or parts of it are affected by genetics and/or stuff in the middle like all this bacteria that live with us (in our gut etc). Life is not that easy as some morons like to see it be.

Re:Try this (1)

gzuckier (1155781) | about 8 months ago | (#46442461)

Actually, around 50/50 is as good a breakdown of the normal variance as any, given the standard error of our current measures. (And as with any such, that's dependent on the distribution of both in the population; obviously, looking at the breakdown of the variance in schizoid alcoholics would give you a different result).
For a given individual, of course, the ability of change mortality/morbidity is entirely due to environment/lifestyle.

Re:Try this (1)

phantomfive (622387) | about 8 months ago | (#46442903)

For a given individual, of course, the ability of change mortality/morbidity is entirely due to environment/lifestyle.

True point

Or not. (2)

PopeRatzo (965947) | about 9 months ago | (#46432279)

It's pretty interesting that one of the endorsements over at the website for the "forksoverknives" whole foods regime documentary was this:

'"A film that can save your life." - Roger Ebert, Chicago Sun-Times '

oops...

Re:Or not. (-1)

Anonymous Coward | about 9 months ago | (#46432871)

Everyone dies, you dumbfuck.

Re:Or not. (-1)

Anonymous Coward | about 9 months ago | (#46433047)

I haven't.

Re:Or not. (1)

gzuckier (1155781) | about 8 months ago | (#46442471)

Everyone dies, you dumbfuck.

I haven't.

Neither has the original poster, I would guess.

Re:Or not. (2)

PopeRatzo (965947) | about 9 months ago | (#46433069)

Everyone dies, you dumbfuck.

Despite the "life-saving" diet? I'm shocked.

You've got to admit, it's a little bit like having Sonny Bono endorse a set of skis. Or Jim Fixx writing a blurb about how running prevents heart disease. While it may be true, it's probably not the best marketing strategy.

Re: Or not. (-1)

Anonymous Coward | about 9 months ago | (#46433225)

Prove it, faggot

You were marked as troll because of cluenessness (2)

Paul Fernhout (109597) | about 9 months ago | (#46433961)

For example, Wafarin/Coumadin is likely unneeded with good diet: http://www.diseaseproof.com/ar... [diseaseproof.com]

The article cited dosing for Wafarin/Coumadin as a motivation for genetic research -- ironically ignoring it is not needed at all with better nutrition (in probably almost every case, so talk to an informed medical practicioner etc..). The link above is from something Dr. Joel Fuhrman wrote in 2004 (just to show how people searching for a magic bullet ignore the obvious). From there:
"Coumadin, Vitamin K, and a Plant-Based Diet ...
Eat more healthfully and stop taking Coumadin. The main problem with the studies that show that patients at risk of stroke benefit from anticoagulation with Coumadin is that they tested mostly high-risk patients on the typical disease-creating American diet, not low-risk patients on a vegetable-heavy, plant-based diet. As one's diet changes to include more vegetation and less and less animal products and refined foods, one's cholesterol drops, one's blood pressure typically decreases, and one's risk of a heart attack or embolic stroke plummets.
    A high-nutrient, plant-based diet already has been demonstrated in medical studies to have a powerful effect at decreasing the risk of embolic stroke as well as heart attacks. In fact, in the Nurses Health Study a mere 5 servings per day of fruits and vegetables reduced risk of embolic stroke by 30 percent (and this is still a poor diet by my standards). 2 Another study looking at the consumption of greens, vegetables, and daily fruit consumption found a dramatic decrease in stroke incidence (approaching 50 percent) when they compared high and low fruit and vegetable consumption.3 My dietary recommendations, extremely low in salt and offering the equivalent of more than 10 servings per day of stroke-protecting produce, have been demonstrated to dramatically lower cholesterol and offer a much greater resistance to both strokes and heart attacks than Coumadin therapy. For people following my nutritional advice, the use of Coumadin becomes ill-advised. The use of this dietary intervention quickly drops people from a high-risk to a low-risk status. In most cases, Coumadin is no longer needed.
    Most people on Coumadin would be much safer if they ate an ideal diet with lots of vitamin K containing greens; took an aspirin, EPA/DHA fatty acids, and LDL protect daily; and stopped taking the Coumadin. The risk of all causes of death would decrease precipitously. Eating right will not cause you to bleed to death. Instead, it can save your life.
    Natural anticoagulants to consider instead of Coumadin are tomato juice, pomegranate juice, fish oil, vitamin E, horse chestnut seed extract, and ginkgo biloba.
    Is Coumadin the Only Hope?
    For those who absolutely must take Coumadin, because of a recent thrombotic event, the danger of not eating a healthful diet exceeds the risk of increasing the Coumadin dose slightly to accommodate the healthier diet. As long as the amount of greens you eat is consistent, your doctor can adjust your Coumadin dose to accommodate it.
    For the patient who must stay on Coumadin, the diet must be consistent from day to day to avoid fluctuations in the effectiveness of the drug. To keep the vitamin K amount constant, it is sensible to eat one large raw salad a day and one serving of dark green vegetables such as asparagus and string beans, but leave out the dark green leafy vegetables, such as steamed kale, collards, and spinach. Adding some of those to a soup is okay, however. The goal is to keep your vitamin K level stable, so the amount of blood thinning does not swing into a danger zone. A dangerous level of blood thinning can occur if the dose of Coumadin is adjusted to a high vitamin K intake and then suddenly the patient does not eat many vitamin K-containing foods for a few days. In other words, the main goal is to eat the same amount of vitamin K-containing foods every day.
    In summary, the evidence indicates that both Coumadin and aspirin are effective for prevention of emboli in patients with atrial fibrillation. Coumadin is more effective than aspirin in those very high-risk patients, but is associated with a higher rate of serious bleeding. The advice of the typical healthcare provider to severely limit vitamin K-containing foods does not consider the risk reduction that occurs from the dietary improvements. A diet high in processed foods and animal products, although low in vitamin K, will increase your risk of a heart attack and stroke. Instead, eat even more of those high-vitamin K foods and, if at all possible, get off the Coumadin."

See also:
http://www.fatsickandnearlydea... [fatsickandnearlydead.com]

Or as Fuhrman says here on much of modern interventional cardiology:
https://www.drfuhrman.com/libr... [drfuhrman.com]
"Interventional cardiology and cardiovascular surgery is basically a scam based on a misunderstanding of the nature of heart disease. Searching for and treating obstructive plaque does not address the areas of the coronary vascular tree most likely to rupture and cause heart attacks. If there was never another CABG or angioplasty performed or stent placed, patients with heart disease would be better off. Doctors would be forced to educate our citizens that their heart disease risk is determined by what they place on their forks. Millions of lives would be dramatically extended. To abandon the theory of stretching and cutting out areas with plaque would shut down interventional cardiology, nearly all cardiovascular surgery, and many suppliers of the biotechnology. In many cases, interventional cardiology is the major income generator to hospitals. The ending of this ill-conceived, out-dated and ineffective technology would dramatically downsize hospitals in the United States and free up over $100 billion annually in medical care costs. Besides being ineffective, interventional cardiology places the responsibility in the hands of the doctor and not the patients. When patients finally realize they must take control of their heart problems with aggressive dietary modifications (and when needed medications for temporary periods) we will essentially solve the health crisis in America.
    The sad thing is surgical interventions and medications are the foundation of modern cardiology and both are relatively ineffective compared to nutritional excellence. My patients routinely reverse their heart disease, and no longer have vulnerable plaque or high blood pressure, so they do not need medical care, hospitals or cardiologists anymore. The problem is that in the real world cardiac patients are not even informed that heart disease is predictably reversed with nutritional excellence. They are not given the opportunity to choose and just corralled into these surgical interventions.
    Trying to figure out how to pay for ineffective and expensive medicine by politicians will never be a real solution. People need to know they do not have to have heart disease to begin with, and if they get it, aggressive nutrition is the most life-saving intervention. And it is free."

And perhaps being "free" is part of the problem in a for-profit medical care system like the USA, with everyone searching for medical monopolies on new drugs which are often just proven by statistics to be only a tiny bit more effective than placebos?
http://www.wired.com/medtech/d... [wired.com]

Bad Title, Bad Summary, Bad Article, Bad Submissio (5, Funny)

sexconker (1179573) | about 9 months ago | (#46432255)

Might as well have just done:

Title: GABBO
Summary: GABBO is coming!
Article: Who is GABBO? No one knows, but he's coming soon!

Re:Bad Title, Bad Summary, Bad Article, Bad Submis (0)

Anonymous Coward | about 9 months ago | (#46433347)

Oh yeah, gabbo, gabbo, bitch!

Filter error: Don't use so many caps. It's like YELLING.

DF? I only used twice.

Cha-ching (0)

Dan East (318230) | about 9 months ago | (#46432333)

Take two genomic pills and call me in the morning. Sounds affordable.

Re:Cha-ching (1)

bob_super (3391281) | about 9 months ago | (#46432535)

The whole point of it being that it won't be.
Wanna keep on living? That'll be $200k, please!

Re:Cha-ching (-1)

Anonymous Coward | about 9 months ago | (#46433067)

ZoMG!!!! Everything's not free!!!!!! WTF?!?!?!?!?!
 
Go move to a country where everything is "free" and shut your that fucking asshole under your nose.

Re: Cha-ching (0)

Anonymous Coward | about 9 months ago | (#46433479)

Amazing how you were about to say mouth but felt like you had to go out of your way to properly insult him. Such friendly, diplomatic behavior, must do wonders for your career, personal life and love life. We definitely need more people like you in the world.

Re:Cha-ching (1)

synthespian (563437) | about 9 months ago | (#46437315)

Imagine a world free of public health. Imagine a world where the free asshole thinks that when the public health authority demands you take a vaccine, your liberty is being encroached upon. So imagine a world where no public health authority exists. Imagine a world where another free, unvaccinated asshole sneezes at your face, and imagine that in that free world, you simply died, because you were all free to do as you like, such as deciding not to spend your money on vaccination. Except, you're an ignorant fuck who knew diddly-shit about vaccines or epidemics, so you become a dead free man. That's real smart.

In general terms, there's no free lunch. When you mentioned "free", you probably meant "public health". And, just like the army knows best sometimes, the medical authority knows best sometimes because that's what they do: they study and take care of the health of large populations.

Re:Cha-ching (0)

Anonymous Coward | about 8 months ago | (#46442499)

ZoMG!!!! Everything's not free!!!!!! WTF?!?!?!?!?!

Go move to a country where everything is "free" and shut your that fucking asshole under your nose.

I'm taking up a collection to buy you a fatal disease. Hopefully it will be quick.

Regulatory hurdles (2)

mi (197448) | about 9 months ago | (#46432339)

It is my understanding, that FDA's current stance is that all such person-specific treatments/medicines must be individually approved... And, because the approval process is so horrendously difficult and expensive, few would be willing (nay, able) to do it. Companies do it for mass-market drugs, but for individually-tailored mixtures — where the expected market is numbered in mere scores or, at best, hundreds of people — it just makes no sense...

Re:Regulatory hurdles (2)

nurb432 (527695) | about 9 months ago | (#46432491)

So you just get treatment somewhere else in the world that is less restrictive.

Re:Regulatory hurdles (4, Interesting)

buybuydandavis (644487) | about 9 months ago | (#46433831)

Are Native American lands bound by the FDA?

Re:Regulatory hurdles (4, Informative)

pepty (1976012) | about 9 months ago | (#46432941)

It is my understanding, that FDA's current stance is that all such person-specific treatments/medicines must be individually approved

There is already some flexibility on that front. Cancer immunotherapies like sipuleucel-T (Provenge, approved in 2010) are unique to each patient.

Re:Regulatory hurdles (1)

mi (197448) | about 8 months ago | (#46445837)

There is already some flexibility on that front. Cancer immunotherapies like sipuleucel-T (Provenge, approved in 2010) are unique to each patient.

"Some flexibility" my sore back... Life-saving medicine is still denied patients [myfoxdc.com] , because of the FDA's approval cycle. And the additional obscenity of it all, it that the (would-be) manufacturer of the drug is portrayed as the villain...

Re:Regulatory hurdles (1)

pepty (1976012) | about 8 months ago | (#46449849)

One the one hand that's irrelevant to the topic of the thread (approval hurdles for individualized therapies. On the other hand brincidofovir has yet to succeed in phase III trials' it has also failed a phase II (efficacy) trial, so calling it a life saving drug is a bit premature. On a third hand why are you saying this is about the FDA approval cycle and not about ability to quickly scale up production of the drug to support both a Phase III trial and compassionate use, or the difficulty handing out the drug for compassionate use causes for recruiting patients for a phase III trial? if you think you need the drug, would you rather definitely get it (compassionate use) or risk maybe not getting it (assigned to control wing of clinical trial). On the asinine (money) side, highly publicized failures of a drug during compassionate use could tank a biotech's stock right while they are trying to keep funding together for an expensive clinical trial.

This article covers a bit of the complexities involved:

http://pipeline.corante.com/ar... [corante.com]

Re:Regulatory hurdles (4, Insightful)

Daniel Dvorkin (106857) | about 9 months ago | (#46433203)

The clinical trials framework that's evolved over the decades isn't really equipped to deal with personalized medicine, but that's starting to change. Where I work [altituderesearch.org] , we're starting to understand the genomic basis of altitude sickness and putting together treatment trials on that basis. This is an area where the potential market is pretty large, of course, and for rare diseases that affect small numbers of people it's going to be harder, but if we can develop a generally accepted body of protocols for individualized trials then it should be possible to apply this to smaller groups as time goes by.

Just stick to food... it's all you need. (-1)

Anonymous Coward | about 9 months ago | (#46435075)

Altitude sickness? Food lectins and blood type plus blood alkalinity should be your main focus. I live 2 miles above sea level and have seen amazing results with just food choices.

"Modern" medicine is a not-funny-at-all joke that's killing people. I seriously doubt this 'new' (Bwahahahaha!) approach is going to be any better.

Can't we just Skip the pills and eat REAL food?

bioinformaticians (0)

Anonymous Coward | about 9 months ago | (#46432433)

never been a better time to be a bioinformatician that's for sure.

Isn't delivery still a problem? (0)

Anonymous Coward | about 9 months ago | (#46432435)

How do they deliver genetic payloads? I thought that was still a major stumbling block to genetic medicine.

Re:Isn't delivery still a problem? (1)

SemperUbi (673908) | about 9 months ago | (#46432607)

Genomic medicine can be as simple as having your genome sequenced and interpreted by someone who knows what they're doing. Healthy people usually have several genetic polymorphisms or mutations, only some of which are significant, and sequencing can help you learn which genetic findings are significant health risks, and which are harmless. What you're talking about is gene therapy, which is a lot more involved.

Re:Isn't delivery still a problem? (0)

Anonymous Coward | about 9 months ago | (#46433245)

Or it could mean something like 23andMe, which is the genomic equivalent of going to the corner drug store for OTC medicine.

Ah, but the FDA shut that down because they want 23andMe to experimentally reproduce every single paper (already published and peer reviewed) that they base their results on.

Re:Isn't delivery still a problem? (2)

pepty (1976012) | about 9 months ago | (#46432949)

Short answer: it's still a major stumbling block. But check out Crispr:

http://www.technologyreview.com/review/524451/genome-surgery/

Re:Isn't delivery still a problem? (3, Interesting)

TemperedAlchemist (2045966) | about 9 months ago | (#46433431)

Gene therapy is performed through vectors, notably viral vectors.

finally...a new meme (2, Funny)

Connie_Lingus (317691) | about 9 months ago | (#46432539)

move over "X is the year for linux on the desktop"...we have a new contender.

2014 is the year for medicine on the genome.

The Load (2, Interesting)

Anonymous Coward | about 9 months ago | (#46432753)

How many diseases have cheap preventable causes? Many
How many cheap preventable causes are the medical "science" industry interested in finding? Zero
What is the likelihood that insurance companies will want to use genetics to exclude benefits? Very high
How long time will it take for new research to enter into medical practice? As long time as it will take for the practitioner to retire.
Genetics: Too much knowledge in the wrong hands is a bad thing.

Re:The Load (2, Interesting)

pepty (1976012) | about 9 months ago | (#46432971)

How many diseases have cheap preventable causes? Many How many cheap preventable causes are the medical "science" industry interested in finding? Zero

Well, bullshit. NIH is quite interested in finding them, as are many healthcare providers. Pharmas aren't, but that isn't their job.

What is the likelihood that insurance companies will want to use genetics to exclude benefits? Very high

And very illegal. Has been for years.

How long time will it take for new research to enter into medical practice? As long time as it will take for the practitioner to retire.

Depends. If it is leading to a new drug, could be 5-12 years. Diagnostics can be much faster.

Re:The Load (2, Insightful)

Anonymous Coward | about 9 months ago | (#46433271)

"Pharmas aren't, but that isn't their job."

Pharmaceutical companies justify their prices and patents by saying that they're performing a public service. No pharmaceutical company needed an fscking patent to develop, test, and sell Viagra, even though they did get those patents. They say they need patents and tax loop holes to develop expensive drugs with small markets and low profit margins.

But companies aren't pursuing small markets and low profit margins. Big pharmaceutical companies pursue huge markets with huge profit margins.

Most genomic science-based drug development is spearheaded by the NIH, universities, and other non-profit centers. Although university labs suck at this because the moment a researcher makes a discovery, he immediately leaves the school to form his own for-profit lab and chase big money. Then some large company buys his company (smelling a publicly financed science windfall). Then, invariably, the research is left to wither on the vine because the company spends 99% of its time chasing weight loss, diabetes, depression, etc. And the CEOs don't care about this ridiculous cycle because as long as they keep buying up small labs at a reasonable pace, they reap asset gains in the stock market because investors equate these deals with progress.

Re:The Load (2)

pepty (1976012) | about 9 months ago | (#46433449)

"Pharmas aren't, but that isn't their job."

Pharmaceutical companies justify their prices and patents by saying that they're performing a public service. No pharmaceutical company needed an fscking patent to develop, test, and sell Viagra, even though they did get those patents. They say they need patents and tax loop holes to develop expensive drugs with small markets and low profit margins.

But companies aren't pursuing small markets and low profit margins. Big pharmaceutical companies pursue huge markets with huge profit margins.

Most genomic science-based drug development is spearheaded by the NIH, universities, and other non-profit centers. Although university labs suck at this because the moment a researcher makes a discovery, he immediately leaves the school to form his own for-profit lab and chase big money. Then some large company buys his company (smelling a publicly financed science windfall). Then, invariably, the research is left to wither on the vine because the company spends 99% of its time chasing weight loss, diabetes, depression, etc. And the CEOs don't care about this ridiculous cycle because as long as they keep buying up small labs at a reasonable pace, they reap asset gains in the stock market because investors equate these deals with progress.

No biotech or pharma would receive funding from investors to develop drugs without patents to protect themselves. Hate it or hate it, Wall street calls the tune. Companies spent up to $12B per successful drug approval in 2012.

Last year, about a third of the drugs approved were for orphan diseases (small markets). Most drugs last year were for cancer, but there was also two new treatments for Hep C, one of which will be a cure for many patients. Here's the list:

http://www.fda.gov/Drugs/DevelopmentApprovalProcess/DrugInnovation/ucm381263.htm

Which ones do you think should not have been developed?

Pharmas only pursue high profit margin projects. The risk of failure is way too high to pursue low profit projects. Year in year out, about a quarter of new drugs are invented in academia; the rest are invented privately.

If universities are going to develop drugs they will essentially have to be reconfigured as for profit pharmas to get the job done. Is that really what you want?

Re:The Load (2)

Rich0 (548339) | about 9 months ago | (#46433585)

If universities are going to develop drugs they will essentially have to be reconfigured as for profit pharmas to get the job done. Is that really what you want?

I agree with everything you said but this point. There is no reason the NIH couldn't fund drug development (as opposed to drug basic research - which is what they currently fund for the most part). However, it would be very expensive - there is no reason to think that it won't cost them the $12B/drug industry is spending at the moment (on top of whatever they're already spending on research for those drugs).

The main benefit of having the NIH do it would be that it gets rid of the model where the patient pays for the drug, which is what I think most people object to. The downside is that it politicizes drug development. A drug like Viagra might never be developed under that model, despite being quite important if you are of the mindset that sales implies importance.

Personally, I think there is room for both models. Don't get rid of patents, but have the NIH fund more drug development end-to-end (with the resulting drugs being licensed royalty-free to any manufacturer if manufactured in a country that reciprocates). That means more "cheap" drugs, but you don't kill off the industry overnight either. In fact, the existing industry could subcontract for the NIH (they'd just do it fee-for-service and not get an ownership stake).

Re:The Load (1)

pepty (1976012) | about 9 months ago | (#46435427)

The CRO (contract research organization; research without an ownership stake) model is already a big part of pharma and biotech. The NIH has started translational medicine programs to get things through preclinical trials, but is still planning on handing off to pharmas for the heavy lifting. I think a big problem a public system would have to solve is going from having the wrong cooks (Wall Street) to having too many cooks spoiling the broth. While occasionally something stellar comes along, a lot of the time there's no clear way to look at a development pipeline and decide which drug candidates should be advanced and which should be abandoned. For Pharma marketing analyses make the final decisions, for better or for worse. With a public model Congress, lobbyists, and patient pressure groups would all have their fingers in the pie. They would all advocate for their own interests, but with little or no understanding of which drug candidates are likely to succeed and which to fail. After all, they wouldn't get fired or laid off for pushing batshit crazy drug candidates, just rewarded for pushing the "right" ones.

Re:The Load (1)

Rich0 (548339) | about 9 months ago | (#46436269)

Agree on all. The one advantage of the private model is that there is at least some correlation between medical need and potential dollars to be made. An influential senator might end up having a billion dollars spent on some rare condition that somebody he cares about happens to have, and no private pharma company would do that.

The other advantage with the private model is that at least there is competition. Nobody blesses one particular research group and says that they're the only ones allowed to work on cancer drugs, or whatever. You can sometimes get that effect in the government sector (not always).

I think a healthy mix would have more government funding end-to-end than it does today. However, I'm not a fan of getting rid of drug patents - there should be some kind of private incentive for finding treatments for diseases. Sure, they're not perfect, but nobody is forced to take medication (and they'd have alternatives if the government did pursue full development). I think the real objection is to the cost, and considering that most Pharma stocks have been pretty flat it isn't like anybody is making out - the costs just are what they are. Subsidized coverage for drugs would allow the poor to afford them - the issue isn't cost so much as who is paying for it.

Re:The Load (2)

Rich0 (548339) | about 9 months ago | (#46433607)

What is the likelihood that insurance companies will want to use genetics to exclude benefits? Very high

And very illegal. Has been for years.

Indeed, ACA also made any exclusion of benefits for pre-existing conditions illegal just recently, mandating universal coverage instead (though in a fashion that will probably cause the law to fail unless the tax penalty is significantly raised). I think that this was going to be necessary one way or another, as simply banning exclusion on the basis of genetic testing was not a viable long-term solution.

If you ban exclusion on the basis of any kind of knowledge (including genetic testing), then it means that consumers can use that knowledge to decide whether to seek coverage, but insurers can't use that knowledge to deny coverage. That means that only people likely to be sick would sign up, and thus you get the typical health insurance death spiral.

Really the only way to avoid this is to mandate that everybody buys insurance, so that the healthy subsidize the sick (which is basically how insurance has always worked anyway). In the past it wasn't a problem because genetic testing didn't tell you anything useful. Today it isn't quite far enough along to cause problems with insurance, but some day you might be able to prick a kids toe at birth and tell their mother their anticipated life expectancy (barring accidents).

Oh, I don't know what the status of life insurance is. If it too isn't allowed to discriminate based on genetic testing then eventually that law will need to change or the industry WILL fail. Of course, that could be many years off. It should be obvious though that if individuals are allowed to know their life expectancy and insurers aren't, that there isn't any way to set a price for insurance that anybody will be able to afford. When you walk in and ask for insurance the insurer can safely assume that you're going to die soon, and they'll price their product accordingly. Of course things like accidental death only policies would still be reasonably-priced, since nobody can predict who will need them.

Re:The Load (0)

Anonymous Coward | about 9 months ago | (#46434107)

NIH and FDA are controlled by political forces, commercial interests always trump common interests, which have the money to fund whatever. Idealist can go and sit in the corner.
If insurance companies were interested in reducing costs I think you would see them more interested in prevention, buying up medical supply companies, and hospitals, but it is easier to just pass along increased costs to policyholders, with attendant profit increases. NIH has found what cures or preventions? Academics want glory and the rest want money. Which of these chemical cures actually address the root cause of a disease? Not too many, if they are naturally occurring they would be hard to patent, thus artificial and unnatural "cures" are favored. Evidence in medical "science" is mostly empirical. Exact and complete molecular level understanding is missing, I smell alchemy here.

"And very illegal. " Illegal means nothing when there is a taste for blood.

I have a paper you can find on PubMed that say it takes an average of 17 years for new research to find its way into medical practice. Personal experience shows me that it may be much longer than that.
You are really hedging here, Pepty, you always want to be right even though you know you are not?

Healthcare is a commercial activity, in great need of advertising, where the need SHOULD be obvious. If the phone stops ringing in the doctors office there will be panic. Sick people are the best. Diagnostics are great for generating new prescriptions, besides generating income.

Healthcare insurance companies provides no real positive function, universal healthcare which is adopted in most civilized societies eludes the US. As the US gets de-industrialized and poorer, the likelihood for change goes to zero. I would expect to see insurers fight to the death for their existence.

Your faith in "the system" is not supported by evidence.

   

Re:The Load (1)

pepty (1976012) | about 9 months ago | (#46435271)

You hit on some of the reasons it would be difficult to replace the current business model for pharma with an NIH/academia model. I think there are a lot more perverse incentives in the Pharma/Wall Street model than the public one, but the public model would present different difficulties. For starters, we'd replace a system that chases the most profitable drugs with one that absolutely positively refuses to fund contraceptive development (thanks Congress). The NIH has been emphasizing translational medicine for a few years now, but it would have to majorly increase funding for those attempts (while its budget overall stays static: thanks again, Congress) to replace even one major Pharma company.

Lots of people think treatments are given a priority over cures because they think treatments are more profitable, but frankly the reverse would be true for any serious disease. A company that invented a cure for any major disease would wipe the floor with its competitors still selling treatments, furthermore insurance companies would happily pay a lot more for the cure than it would for a decade of drug therapy. Why? the cure would still be cheaper. Drugs are only part of the cost of treating a disease, there's also hospitalizations, surgeries, tests, etc. If a cure is one dollar cheaper than all of the combined (net present value) costs of treating the disease and all of its complications, the cure is cheaper for the insurer. A cure would quickly dominate over treatments in the market. Plus the pharma would get all of its revenue up front right now (as opposed to in dribs and drabs over years of prescriptions),

The problem is that cures are much much more difficult to create than treatments. For most non-infectious diseases it amounts to replacing a defective capacity in your body with something new. Want to cure cancer? Just invent a 100% accurate way to differentiate between cancerous and non-cancerous cells and attach it to a way to specifically and neatly kill the former but not the latter. Want to prevent cancer? Just come up with an error detection/correction system for DNA that is 100% accurate for all carcinogenic mutations and then successfully install it in all of the cells of your body. Til then we're stuck with trying to improve the immune system we have and more brutal methods.

You might also want to look at the ways drug manufacturers can get market exclusivity for drugs without a patent, both natural and synthetic. The incentive programs get abused to be sure (dimethyl fumarate), but a company can still have several profitable years if it can cheaply prove a drug answers an unmet medical need.

As far as research-to approval timing goes, I'm going from the date the drug is invented. Picking a particular link in the chain of research that comes before then gets iffy. The day the target was sequenced? The day it was recognized as a target? the day it was confirmed as acting similarly in humans? The day they got a tool compound to produce the result they were looking for in an vitro assay system? The day of the first press release saying "this research could eventually lead to a drug"?

Got me.

Exact and complete molecular understanding of biomolecules and their interactions has been the goal for generations now. Turns out it's a bitch.

Ab initio simulations that can fully predict how proteins interact with each other and other biomolecules are still outside of our grasp, so we use fudged (empirical) models instead. Drug design based on these calculations has been ... entertaining over the past 20 years, but not very successful. Alchemy indeed. If you happen to have a quick way to solve the full non-linear Poisson Boltzmann equation for ~50,000+ kD molecular weight proteins in cellular environments (as opposed to just a vague representation of water) the industry is all ears. Recently there's been a swing back to phenotypic screening from in-silico/rational drug design methods in drug discovery, because empirical methods just seem to be more productive.

Also: insurers have been emphasizing prevention. Insurers make the most money by taking your premium and NOT treating you at all. This is much more difficult to do if you are sick.

Re:The Load (1)

synthespian (563437) | about 9 months ago | (#46437271)

Fear not. The most cost effective model if the one based on general practice family medicine. It achieves an 85% resolution rate, with the other 15% of patients being referred to secondary and tertiary health centers. That is the most cost-effective model in the world and even private companies are slowly gearing towards that. All large effective public health systems in the world work like that. Slowly but surely the US will move towards something more like the British or Canadian systems (to give examples you can relate to).

It's either that, or systems brake due to increasing costs. It's cool to have a super-robot to perform surgery on you. Better yet, take preventive steps so you won't need the super-robot surgery. You will likely benefit from a better quality of life, too.

Poster should consider going back to the clinic? (3, Informative)

Anonymous Coward | about 9 months ago | (#46432841)

People need to maintain the distinction in their head from gene finding (which still goes on and is one of the subjects of TFA) and clinical care. The impact of genomic medicine on clinical care is still limited and is likely to remain so for the forseeable future because of what genomic medicine is currently good at predicting.

There will be some benefits in selection of oncology protocols in the short term, but knowing cancer genomics does not actually lead to new chemotherapeutic agents except in the long term (even if a drug target is discovered today, if there is no currently approved drug on the market it could take 10-30 years to develop a drug targeting a new class of mutation).

For most other adult disease, the application will be limited to relatively rare outliers like the limb-girdle disease highlighted in the article. Genomic medicine isn't going to change the fact that huge swaths of patients need to take statins, for example. In fact, the 'success' submitter posits (Warfarin) is actually a bust. The actual benefits from pharmacogenetic testing for Warfarin metabolism are swamped by all the other factors which affect Warfarin metabolism (eg diet and other meds). As for Alzheimer's which TFA also mentions, they're still at the stage of recruiting their 40k subjects to sequence at $1000 a pop. The analysis will take thousands of man-hours just to generate some new hypotheses about Alzheimer's which will, in turn, take 10-30 years to lead to new therapeutics (if we're lucky).

The one area where whole exome sequencing and related technologies are likely to change care in a meaningful way is pediatrics and fetal medicine where there are tons of rare, fatal things due to rare point mutations. In these cases, early molecular diagnosis would reduce the diagnostic odyssey and allow early discussion of the goals of care.

Re:Poster should consider going back to the clinic (3, Informative)

Daniel Dvorkin (106857) | about 9 months ago | (#46433243)

The actual benefits from pharmacogenetic testing for Warfarin metabolism are swamped by all the other factors which affect Warfarin metabolism (eg diet and other meds).

The FDA disagrees, and so does the evidence [onlinejacc.org] . And there are a whole lot of areas [nih.gov] where pharmacogenetics is starting to have an impact on treatment. In any case, pharmacogenetics is a subset of pharmacogenomics; for example, as I mentioned in another comment [slashdot.org] , the lab where I work is working on expression-based tests for prediction of altitude sickness and setting up drug trials.

Re:Poster should consider going back to the clinic (1)

Anonymous Coward | about 9 months ago | (#46434049)

as someone working on front line seeing patients as well as doing genetics, genomic medicine remain a niche field and will remain so. most patients cant even get the basics right and you are talking about tweaking drug dosing by a little based on a polymorphism.

Re:Poster should consider going back to the clinic (1)

synthespian (563437) | about 9 months ago | (#46437225)

There will be some benefits in selection of oncology protocols in the short term, but knowing cancer genomics does not actually lead to new chemotherapeutic agents except in the long term

What about vaccines? Any informed physician that looks at the data can explain to you that bioinformatics has contributed close to nothing in terms of new vaccines. Why is that?

With regards to cancer genomics, there are a bunch of questions that arise from potential treatment that the pharmacogenomics peddlers never mention: how will you conduct trials? Will you promote small clinical trials, with chemo agents that represent small molecular variations? How will you manufacture such molecular variants? What would they cost? When you finally give them to humans, how will you monitor the clinical trials? Will you have a large enough sample (in the statistical sense)? What's the control? BTW, when I mentioned peddlers, I mention peddlers. I don't want to generalize.

The one area where whole exome sequencing and related technologies are likely to change care in a meaningful way is pediatrics and fetal medicine where there are tons of rare, fatal things due to rare point mutations.

I beg to disagree. When you have very rare diseases, you get extremely low frequencies. That means not one doctor will get to specialize or gain experience in such rare diseases. Every time the disease pops up, it will be a novelty for the doctor. What you need, what we need in Medicine is a way to keep extremely long term databases. In this way, data can be accumulated and sifted, and patterns that arise here and there throughout decades, that could be mined. The deployment of these databases would revolutionize the care of patients burdened with extremely rare diseases. It's of little use detecting the condition if you don't know how to care for the patient.

Have any of you read A Fire Upon the Deep, by Vernor Vinge?

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

In this book, the idea of databases spanning centuries is part of a central plot in the story.

U Like it better... (0)

Anonymous Coward | about 9 months ago | (#46433155)

On "INVISO-POWER"...

Genomic medicine (0)

Anonymous Coward | about 9 months ago | (#46433531)

Having genomic information about a particular patient and condition is only small part of the story some needs to take that information and develop an effective therapy which is not trivial and requires years of research and development.

Re:Genomic medicine (0)

Anonymous Coward | about 9 months ago | (#46433677)

For certain rare metabolic conditions, even just eating the right foods (or not eating the wrong foods) can make the difference between living a relatively normal life or dying in infancy. But for the genetic conditions where it will take years of research to find an effective therapy, why not? Would you prefer to live in a world where the productive capacity of the economy is used to produce designer handbags for rich people?

I want to cure dying (1)

epine (68316) | about 9 months ago | (#46433795)

Too many people suffer and die from too many diseases that we more or less understand, but can't effectively treat.

Yes, this is what classical Greek rhetoric describes as a regressive mirage: the more you learn, the worse it gets, no matter how diseases you cure along the way.

Here's the amazing thing. Understanding tends to outpace effective intervention. Any snooker player can tell you which ball on the table he'd really like to move next. It's rarely the ball he's presently shooting at. In Genomics, we're talking 30,000 balls on the snooker table, and the snooker table is gravity golf in a twenty dimensional space. Even with your trillion dollar Laplacian pool cue, you're struggling to pull off exactly the shot you want.

When I was young and we were on a long trip and the moon was hanging there on the horizon, I always wanted to go faster, so we could see the other side.

Then I got a little bit older. Perhaps a month older. And I thought to myself, "you know, there are reasons why this is probably not going to happen the way I want it to".

Somewhat tangential (3)

Stickerboy (61554) | about 9 months ago | (#46435117)

There have been some successes along the way, like genetic tests for warfarin dosage, but for the most part our gains in understanding of basic biology haven't been matched by clinical advances.

If you're spending thousands of dollars for genetic testing for a $4 a month drug like warfarin, you're doing it way wrong. It's like the proverbial million dollar cure for the common cold. You could either use one of the newer warfarin alternatives with more consistent pharmacokinetic profiles at a higher price or use the old tried-and-true trial and error dosing.

Either way, you're still doing weekly to monthly lab testing for warfarin dosing. And your warfarin effectiveness (or bleeding risk) is still going to be thrown way off if you vary your diet significantly or start new medications.

A much better example of genomic medicine payoff would be targeting therapies to specific cancer types, like the EGFR receptor mutations in some varieties of lung cancer [wikipedia.org] .

Re:Somewhat tangential (1)

synthespian (563437) | about 9 months ago | (#46437167)

If you're spending thousands of dollars for genetic testing for a $4 a month drug like warfarin, you're doing it way wrong. It's like the proverbial million dollar cure for the common cold.

Right on, brother, right on!

Do these guys even know the algorithms for warfarin dose adjustment real doctors use for their real patients?

When you think of a test, you think of them in terms of a large scale. This is thinking in terms of public health (a term unfamiliar to the large American public, but one whose meaning all doctors understand). It means you gotta factor in things like cost-effectiveness. I mean, for a test to cost thousands of dollars, when we have simple, tried-and-true algorithms for warfarin dose adjustment is insanely stupid.

This is a yet another prime example of stupid research, a prime example of not having a clue about what's relevant in clinical medicine!

no we are not (0)

Anonymous Coward | about 9 months ago | (#46435321)

Don't let narcissists like Venter sell you on this crap.

Caution (0)

Anonymous Coward | about 9 months ago | (#46435895)

There's a lot of work yet, always check out sensation medical news with the best source for medical information on the net: Science-based medicine: http://www.sciencebasedmedicine.org/

The academic game (1)

synthespian (563437) | about 9 months ago | (#46437143)

As we know, science has a lot more to do with the sociology of research than we like to think (say hello to Alan Sokal). Bioinformatics has fallen short of its lofty initial goals because it became a prime example of what nefarious effects the struggle for publication can cause, and also of the alienation of a whole field of scientists by another field of...scientists (?)

The failures of Bioinformatics have to do with it becoming a gold mine for publication-hungry CS PhDs who - if you're familiar with some of the field's exploding literature in the early 00s (or "noughties" for some) - knew really close to nothing about the biology of what they were researching, and produced pile after pile of useless algorithms and "data driven discoveries" far removed from biological or clinical phenomena. A lot of these PhDs seemed to assume the medical and biological professionals had little to contribute, since they were utterly incapable of doing Math. That is how you got things like a room full of Mathematicians and Physicists discussing how to model viral activity, without a single real Biologist specialist in the room (I am not making this up).

So, the field quickly became inundated with research whose only sole purpose was carving out a name in the publication game for Physics and Computer Science majors who had failed to land a position in their original field. Naturally, real doctors and biologists looked at the sometimes infantile-minded simplifications (of Immunology, Metabolism, brain electric activity, genomic modelling, etc.) and sometimes downright asinine assumptions and just walked away. The literature become a huge pile of impenetrable research, to the delight of the graph algorithm researcher (to name one of these sub-fields), but completely alienated from bench biology. Since the clinical phenomena became an excuse for abstraction while the field exploded with new journals, I guess the real doctors and biologists continued on with their research, largely unimpressed with Bioinformatics. They could play their publication game all they liked, while doctors and biologist would continue doing their Real World research. It's a tale from the history of science that needs to be written, because it amounts to almost a decade of high hopes and lost expectations.

And all I mentioned can probably be researched, too. If you look at the papers and their impact, what do you see? How much of that is relevant for research that came later? What's the quantity of dead-end "data driven research"? I'm not thinking about the seminal algorithms, of course, but the spike of...noise that came later...

And to say nothing of the lack of real paradigmatic change in the way the Computer Science was done, with systems full of state, and the lack of theory for real concurrent biological systems. Which is nothing but a reflection of the poor state of the field of Computer Science for such systems. Likewise, the field seemed to approach things with brute force: throw more computing power at it, and metabolic networks will be solved, protein-folding will be solved. Seems like all that C++ and clock cycles weren't really cost-effective...ya think?

Sounds like a cash cow only the rich can afford... (0)

Anonymous Coward | about 9 months ago | (#46440471)

After reading the article, I'm unconvinced.

At least until the role of the genetic material in human gut flora is a proportional part of the equation, it seems to me the "progress" is at least partially intentionally retarded by industry and the FDA "working together" to maintain a status quo that benefits obscene profits, and the concurrent snails pace of medical progress, over the patient.

From Wiki :

"The human body carries about 100 trillion microorganisms in its intestines, a number ten times greater than the total number of human cells in the body.
The metabolic activities performed by these bacteria resemble those of an organ, leading some to liken gut bacteria to a "forgotten" organ.
It is estimated that these gut flora have around a hundred times as many genes in aggregate as there are in the human genome."

Law of Future Promises? (0)

Anonymous Coward | about 9 months ago | (#46440639)

Instead of talking about how close we are (and the implicit need for more money), just make some real advances available to the general public. Until then, you're just making false promises to justify your funding.

GMO people (1)

romons (2767081) | about 9 months ago | (#46441457)

I hope people so helped will be labeled. I don't want to marry a GMO person.
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