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Medicine Biotech Businesses

How Drug Companies Seek To Exploit Rare DNA Mutations 93

An anonymous reader writes: With so many people in the world, humanity can't help but generate a large amount of genetic outliers. Most random mutations are undetectable, and many of the rest lead to serious diseases. But there's another class of mutation that has drug companies salivating. For example: a few dozen people worldwide have a condition that prevents them from feeling any pain. Another condition called sclerosteosis affects less than 100 people, giving them incredibly dense bone structure. Both of these conditions have serious downsides, but drug companies are beginning to see the dollar signs behind isolating these mutations and making them safe.

"People with sclerosteosis lack a protein that acts as a brake on bone growth. Without that protein, bones grow abnormally thick. It stood to reason, researchers thought, that a drug that could block the protein in patients with osteoporosis would encourage bone regrowth. Amgen's scientists created hundreds of antibodies that they tested to determine which might be able to get in the way of the protein. It took them three and a half years of research before they were able to identify the best antibody to inhibit the protein. Then NASA came calling." It's an unfortunate situation for those with the rare conditions; there's a lot more potential profit in finding a way to genetically prevent pain for billions of people than it is to cure the handful with the condition.
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How Drug Companies Seek To Exploit Rare DNA Mutations

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  • The title suggested some che-guevarish rant against capitalism in general and profits in particular. Profits made on the backs of people with genetic diseases, no less!

    I sure am glad, TFA is not about that at all. And, yes, I exploited my computer to post this.

    • by captaindomon ( 870655 ) on Wednesday July 22, 2015 @11:45AM (#50161421)
      Yeah my thoughts exactly. "Drug company realizes that an extremely debilitating rare disease may have a cure with modern science, so they are researching how to cure that." Doesn't sound like exploitation to me.
      • Re: (Score:3, Informative)

        by gstoddart ( 321705 )

        Except, that's not what is happening.

        They're using the rare and debilitating disease as a basis to develop treatment for other conditions ... the people with the rare and debilitating disease? Not profitable enough to cure.

        They're researching how to take someone's illness, leave them untreated, and then use that information to treat someone else.

        And, I'm sorry, but this is big pharma, which means they'll patent anything they discover and prevent people from actually working on cures for the people from who

        • by burtosis ( 1124179 ) on Wednesday July 22, 2015 @12:06PM (#50161633)
          Quite likely true. However at least this gets them quite a bit of indirect exposure and may, yes may, eventually provide them with treatments (doubt we will have cures for genetic conditions anytime in our lifetimes). So I am going out on a limb and going to say it's not 100% bad for these people because without that interest they truly are 100% screwed instead of just 90%. If I was in that position I'd probably take those odds at a treatment.
        • Re: (Score:2, Interesting)

          by mi ( 197448 )

          Never assume drug companies aren't complete bastards who care only for their own profits.

          There! Thank you for restoring my faith in Slashdot.

          They've make cures from ground up babies

          Certainly! I even know, who the supplier would be [hotair.com].

        • by Anonymous Coward

          It all started back with Penicillin... instead of curing the poor sandwich Big Pharma decided to use the discovery for evil!

        • by trout007 ( 975317 ) on Wednesday July 22, 2015 @12:19PM (#50161757)

          I don't have a problem with the Pharmaceutical companies trying to maximize profits. Profits are necessary to help the market determine how to allocate resources. When a company makes "obscene" profits that is a signal to everyone else that resources should be taken from those enterprises incurring loses and invested in the more profitable ventures.

          But patents have nothing to do with a free market. They are a state granted monopoly that need to be eliminated. Get rid of patents and you will have quicker and smaller innovations as companies try to stay ahead in their market.

          • by mi ( 197448 )

            Get rid of patents and you will have quicker and smaller innovations as companies try to stay ahead in their market.

            You'll certainly see companies guarding their secrets themselves — and not publishing their discoveries — thus stalling science.

            Contrary to popular misconceptions, patents do not prevent you from using somebody else's discovery. You just have to pay the discoverer for the privilege...

            • by Anonymous Coward

              Contrary to popular misconceptions, patents do not prevent you from using somebody else's discovery. You just have to pay the discoverer for the privilege...

              You're suffering from a common and utterly wrong misconception. A patent is the exclusive right to exploit an invention. The patent holder can and often does prevent others from using that invention. There is no requirement for them to accept payment in lieu of prevention, although it's common enough.

              • Which is why patents need clear duration limitations rather than outright removal so that even if someone does discover some new invention and prevents anyone else from using it, eventually it becomes completely fair game. I think that most people would agree that the original duration of patents is much too long in the modern world where the rate of advancement has accelerated greatly.

                Without patents at all, the market would quickly devolve into a small group of large players that can use economy of sca
                • Actually, patents usually lead to far greater consolidation of the industry. The generic market doesn't have the same kind of high margins as a patented drug.
                • Which is why patents need clear duration limitations...

                  And they do. It's 20 years from the date of filing. But you must also keep in mind that the pharmaceutical industry is a highly regulated and that the clock is ticking on your patent before you receive FDA approval to actually sell it. It can take between 8-12 years from the time you file your patent to when you can market your drug. That means that you may only have an 8 year window to recoup all of your R&D costs on that one product (and all of

                  • Once you hit the "patent cliff", then the generics will pounce, and begin producing and selling your product for less than it costs you to make.

                    So you are saying that generic manufacturers are better at manufacturing than the patent holders? Is that because patent holders don't care about setting up an efficient system like the generics do? Really, the generics can sell (presumably making some profit as they are a business) at less than it costs for the patent holders to manufacture? Or is it because they are seeking unreasonable profits and are unwilling to compete on quality of product alone once a generic comes along that can do things better

                    • by pepty ( 1976012 )
                      Year in, year out, about 25% of drugs are invented by academic labs (read taxpayers). The rest are invented by industry. Industry is also the source of the majority of funds spent on drug research. I think they are actually the source of the majority of life science funding in the US these days (Republican congresses haven't been too interested in increasing NIH funding for a while now).

                      As to unreasonable profits: What rate of return would convince you to put your money in an investment if you knew it was

                    • It isn't that drugs are invented by academics/taxpayers, it is that they carry out the fundamental research that makes possible the "inventions" by the drug companies. The fundamental research is a huge part of the labor and cost and it is being borne by the taxpayer. As the AC below implies, a tremendous amount of the cost incurred by big pharma is in sales, marketing, lobbying and legal, and some with the trials to bring a drug to "market".
                      So if you would be so kind, address that point as well as the ot

                    • by jc42 ( 318812 )

                      What rate of return would convince you to put your money in an investment if you knew it was going to be 10 years before you received the first dollar back - and there was a 90%+ chance of failure to boot?

                      Funny thing; those numbers were used back in the 1980s, with interesting results. The topic wasn't drugs, though, but rather solid-state manufacturing, and very similar numbers were widely quoted in east Asia. At the time, it was generally estimated that to build a new solid-state facility would require several billion dollars, and would take around a decade to become profitable, due to the extreme difficulty of achieving the required low level of contaminants inside the equipment. Much of the decade wo

                    • by pepty ( 1976012 )
                      About 18% I think, much higher than pretty much any other industry outside of semiconductors. "Big Innovators" like Apple spend about 2% on R%D.
                    • by pepty ( 1976012 )
                      I'm not quite sure what your point is. Most industries spend more on revenue on marketing and overhead as a percentage of revenue than Pharma.

                      What is wrong with the production process at the brand name companies that they cost so much more to make?

                      Could you give some specifics? The specifics I can think of are that offshore generic drug factories in 3rd world countries were historically not inspected very often or very thoroughly by the FDA. So they faked quality control and shipped a lot of garbage. Hence the $500M fine for selling adulterated statins that Ranbaxy caught.

                    • by pepty ( 1976012 )

                      Remember that, to corporate management, scientific research appears to have a record of 90% failure; i.e., 90% of funded research projects fail to produce a patentable and marketable product.

                      Oh, they're pretty much 100% successful at creating patents. The patents get filed before the clinical trials even get started, for the most part. It's the "safe and effective" hurdles that trip everyone up.

              • by mi ( 197448 )

                The patent holder can and often does prevent others from using that invention

                Sure. Which simply means, you have to offer more — money and/or access to your own inventions.

                There is no requirement for them to accept

                Of course, there is not! How could there be? I'm not obligated to sell my bike to you either. But I may consider doing so, if your offer is sufficiently compelling.

          • Obscene profits?

            Then I suppose you are buying stocks in big pharma as then you would be getting a share of these obscene profits and would then be able to distribute your gains as you want.

            If you're not invested in big pharma then you're full of sh*t. You would grow rich, be able to influence the future direction of the companies you're invested in, and you would be able to help others.
            • I'd assume the stock market had already adjusted pharma stocks for expected obscene profits. If you can buy into an operation that virtually prints money, it's going to cost you big-time. I can have a miniscule stake in a really profitable industry or a larger stake in a less profitable industry for the same price.

          • by pepty ( 1976012 )
            How would the market reward quicker smaller innovations in drug development? You don't know if it is a viable treatment or not until you finish phase III clinical trials. There's no revenue until after phase III clinical trials.
            • I was talking about a free market where drug developers and patients were free to deal with each other without regulation. In such a case if patients would normally try more established drugs first and if they did not get results they would work through newer and potentially more risky drugs as they determined by their own risk tolerance. No reason someone couldn't pay for drugs undergoing early development.

              Also the effect of drugs is very individual. If you tried to get peanut butter through clinical trial

              • by pepty ( 1976012 )

                No reason someone couldn't pay for drugs undergoing early development.

                Have to disagree with you there. Here are a couple:

                1. Which drugs are "newer and potentially more risky" and which are just straight up snake oil? Should both be allowed on the market, caveat emptor? How do you tell the two apart?

                2. If you own a new potential drug, why even bother finishing clinical trials? You're much better off doing small trials on random molecules until one looks "promising" and then putting it up for sale. So long as you don't do more research (which would just prove that your promis

                • The market is very good at sorting these things out. Plenty of people buy snake oil. Look at the vitamin/supplement market. Most of that is unproven but people take it anyway. If you have a new drug the reason you will still do trials is because of marketing. Companies send their stuff to UL for testing so they can get the UL Label. You can still have the FDA running trails but instead of banning sales of drugs they just give their seal of approval.

                  If you are risk adverse you may just stay will older more w

                  • by pepty ( 1976012 )
                    No, the market is horrible at working things like this out. Even giant health insurance companies generally would not have access to the data they would need to separate the wheat from the chaff. And yes, look at the vitamin market. Lots of folks taking vitamins: most aren't receiving any benefit from them. But hey, if you market them, people will buy them. UL testing, in comparison to drug testing, is child's play, super cheap, and super fast. The equivalent would be sending a drug candidate to a lab th
        • I don't see what is unethical about placing a higher priority on treating diseases that effect more people.

          choices:
          A. spend $1 billion researching a drug that helps a billion people.
          B. spend $1 billion researching a drug that helps 10 people.

          Here are some hypothetical facts that should not affect the answer:
          1. The entity spending the $1 billion is a pharmaceutical company.
          2. The pharmaceutical company is hoping to earn a profit.
          3. The drug is developed from learning about mutations of people in scenari

          • Well said. One point to add is that people contributing to develop the therapies should all reap some sort of reward commensurate with their level of contribution. So, those folks harboring valuable mutations, who will not benefit from therapies, they should receive some compensation for giving up private information. I am not sure if this regularly happens or if they usually give away their information for free because they feel it is the right thing to do.
            • The people that are helping create the drugs by allowing their mutations to be investigated should absolutely be compensated just like the scientist who is doing the investigating should be compensated.

              And the recipient of that compensation is free to donate that money toward finding a cure for their own disease, or put it toward buying a new house, or whatever they feel is the best use of their own money.

              I'm assuming that at some point the march of progress will eventually get to tackling lower priority pr

        • Let me make the assumption that it's equally difficult to block or synthesize the protein which brakes bone growth. Let's pretend for a second that it would cost the same amount of money to do both, but there isn't enough money, so only one can be done. Blocking the protein would help millions with osteoporosis, while synthesizing it will help the thousands with sclerosteosis. It makes more sense to me to improve the lives of millions of osteoporosis sufferers first. This holds true regardless of whether or
        • by ceoyoyo ( 59147 )

          You know that most of the established pharma companies make certain drugs for rare diseases and either give them away for free or charge completely nominal amounts for them, right?

          There is a new breed of startup company that buys up the rights to such treatments and raises their price by a hundred thousand percent (that's not hyperbole) though. Those guys are absolutely bastards.

          The pharma industry has engaged in some pretty questionable things at various times, but they're not demons.

        • by msauve ( 701917 )
          No, it's not just "big pharma." This has been happening for a very long time, including with supposedly reputable research institutions, like Johns Hopkins. Ref: Henrietta Lacks [wikipedia.org].
          • by ceoyoyo ( 59147 )

            The Henrietta Lacks story doesn't seem to have any real similarities with what the GP said at all.

            HL was treated with the standard of care for a tumour. Cells acquired during that treatment were then used for research, apparently without informed consent. That sample, which could have come from anyone, happened to be the first one that was successfully immortalized. The only reason that particular story is more than just an example of some of the shadiness that went on before we had international convent

            • by msauve ( 701917 )
              So, the ethics somehow change just because "international conventions," created by those who are advantaged by them, exist? You're confusing law and ethics.
              • The ethics didn't change because of international conventions, the conventions just codified the ethical standard and gave them some teeth. I don't know enough to be sure, but I'm willing to believe that HL was unethically treated and the cells were used unethically. That doesn't mean the cell line is eternally tainted and shouldn't be used.

        • Why are they bastards for looking for new ways to cure people? You say they're bastards for not investing billions for a market that won't be profitable? You're the one that's foolish.

          If you want to help those people start a foundation, raise money and team up with a company to make the drug.
        • by gtall ( 79522 )

          This is the age old economics 101 thought problem: there it is usually phrased in terms of kidney dialysis. Do you sink all your kidney money into dialysis for the ones you know you can prolong their lives, or do you siphon it off for research. How much do you allocate? What are future generations worth?

          Nothing special here regardless of your disillusioned rants on big pharma.

    • by Anonymous Coward

      They also neglect to mention that the more studied the pathway the more likely a cure will be found. Maybe the drug, used to reproduce the genetic effects of the drug, needs an antidote that will work as a cure for current sufferers. If I had one of these diseases I would welcome this news because before it really was hopeless for a cure to try to treat a dozen people.

      • by Wycliffe ( 116160 ) on Wednesday July 22, 2015 @12:00PM (#50161563) Homepage

        They also neglect to mention that the more studied the pathway the more likely a cure will be found. Maybe the drug, used to reproduce the genetic effects of the drug, needs an antidote that will work as a cure for current sufferers. If I had one of these diseases I would welcome this news because before it really was hopeless for a cure to try to treat a dozen people.

        Exactly. While they are trying to block a particular protein, it's very possible that they also figure out how to synthesize it. Or in the reverse case, while they are trying to sythesize it, they might figure out how to block it or they might even need to figure out how to block it in a mouse first so that they have a way to test if their drug is working. Before, with only a few dozen people on earth, noone on earth was even looking at that area so the chance of a cure was nil. This way the chance of a cure goes up exponentially. Not to mention that if you get a relationship with a scientist who is studying your disease that they will likely take a personal interest in your case and you're much more likely to get access to experimental procedures.

    • Of course there's more profit in providing cures to billions of people! 30,000 people with ALS and billions of wasted dollars successfullycuring them; or 2 million people with HIV, and the same billions of dollars spent curing HIV? Guess which one's more profitable? Hint: you spent $890 billion and cured 30,000 people in one scenario, and spent $890 billion and cured 2,000,000 people in the other.

      People think only in terms of money when considering economics; they don't think about non-monetary retur

    • It's an unfortunate situation for those with the rare conditions; there's a lot more potential profit in finding a way to genetically prevent pain for billions of people than it is to cure the handful with the condition.

      This one line in the opening comment rubbed me the wrong way, that some how, the pain and suffering of those billions of people is less important than the handful ill with a rare condition. It's not just crassly about profits, but it's a real ethical dilemma - maybe for the greater good, greatest bang for your research buck, focusing on those billions is a greater benefit to humanity than the small handful with an extremely rare condition. I hate making this statement because I don't want to downplay the

  • If I am one of twelve people with a rare genetic mutation, then perhaps I let them study my genes in return for researching a cure for my condition. The drug company stands to make a lot of money off of helping many people, so they can easily invest some into my problem of feeling no pain. Seems like a fair trade, right? Because it's a bit of a drag to think you've just sustained a flesh wound when actually your arm's off.
  • Look, the people 'exploiting' these rare mutations are learning about them.

    I absolutely guarantee you that no one will ever cure those medical conditions WITHOUT learning about them. Also, I guarantee you that if they come across a cure, they will make it.

    These are not evil companies/doctors heartlessly exploiting sick people. Instead, they are wise corporations and doctors investigating a medical condition, hoping to both make some money AND also cure the condition. If they can only do one, they wil

  • Seems rather obvious now that they point it out!

    Subject A: my bones grow too much!
    Subject B: my bones don't grow enough!
    Researchers: Hmm, I wonder if we can find out what causes A and apply it to B?

  • Considering most tissues have limits on how much they can renew, removing the genetic brakes may be a bad idea: it could quickly exhaust the body part ability to regenerate, or lead to cancer. After all, programmed cellular death is the ultimate protection against cancer.
  • It's an unfortunate situation for those with the rare conditions; there's a lot more potential profit in finding a way to genetically prevent pain for billions of people than it is to cure the handful with the condition.

    Oh? How are these people harmed by the development of drugs for other people?

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