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First Children Have Been Diagnosed In 100,000 Genomes Project (bbc.com)

Posted by timothy on from the steps-into-the-future dept.

Zane C. writes: The 100,000 Genomes project, an organization dedicated to diagnosing and researching rare genetic disorders, has just diagnosed its first 2 patients. After painstakingly analyzing about 3 billion base pairs from the parents of one young girl, and the girl herself, "doctors told them the genetic abnormality — in a gene called KDM5b — had been identified". The new information will not yet change the way the young girl, named Georgia, is treated, but it opens up a path for future treatments. For the other girl, Jessica, the genetic analysis provided enough information to diagnose and begin a new treatment. A mutation had occurred "[causing] a condition called Glut1 deficiency syndrome in which the brain cannot get enough energy to function properly." Jessica's brain specifically had not been able to obtain enough sugar to power her brain cells, and as such, doctors prescribed a high fat diet to give her brain an alternate energy source. She has already begun showing improvement.

12 of 75 comments (clear)

  1. Good luck ... by gstoddart · · Score: 4, Interesting

    And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.

    Medical technology is growing FAR faster than either medical ethics, or the laws surrounding what can be done with this information.

    In 20 years when she has issues related to the high-fat diet they'll tell her they can't insure her, and some asshole corporation will claim to own the genes and therefore any possible treatment.

    These days you have to ask yourself ... just who is going to profit from this, and in how many ways is this girl going to be denied services?

    --
    Lost at C:>. Found at C.
    1. Re:Good luck ... by interval1066 · · Score: 2

      The whole point of this is to avoid that sort of thing. You can say a lot about the US but the one thing we've got going here are legions of researchers looking for ways to make people healthier, and not go the euthanasia route. No matter what it costs.

      --
      Python: 'And then suddenly you have a language which says "we're all stuck with whatever the whiniest coder wants".'
    2. Re:Good luck ... by Dcnjoe60 · · Score: 2

      And now a company will patent her genes, and every insurance company will call this a pre-existing condition and deny treatment for anything related to this or its treatment.

      That's the American way. Next step is euthanize to remove the mutants from the gene pool, until we're left with a perfect race. I'm pretty sure someone tried this once before...

      That is only recently the American way. Previously, medical advances/techniques weren't patented. Polio would still be a problem, as would most advances in medicine in the past 100 years if today's American way was also yesterdays.

    3. Re:Good luck ... by Dcnjoe60 · · Score: 2

      Medical technology is growing FAR faster than either medical ethics,

      Hippocrates had a pretty good and solid standard of medical ethics, the only part I remember the translation of is his primary rule: "do no harm."

      Too bad doctors stop taking the Hippocratic oath, at least in the US and now do a Declaration to Geneva. As such, they no longer profess to do no harm. It is more about not discriminating than doing no harm.

    4. Re:Good luck ... by EvilSS · · Score: 2

      In most states in the US genetic testing done during the course of a medical diagnosis is protected from insurance discrimination. Important to note that the testing needs to be done at the order of a doctor, then the information obtained and given to the patient. Going the other way (patient initiated testing disclosed to the doctors) may trigger a loophole found in many of the laws where the protection does not apply when the information is provided voluntarily by the patient. When I did 23 and me I discussed with with my doctor, but we both agreed to keep it "off the record" because of this very situation. It was more of an interesting new tech thing for the doctor anyway (I don't have any known genetic diseases so not much to be done with it).

      --
      I browse on +1 so AC's need not respond, I won't see it.
    5. Re:Good luck ... by Zaowulf · · Score: 2

      ACA has nothing to do with patients and everything to do with insurers and special interests protecting their bottom line. Calling the plans available on the exchange affordable is a joke. And calling that site high-tech is a flat-out lie. I've tried to sign up multiple times. I was told twice that my account didn't exist, despite having confirmation emails from just a few days prior. When I lost my coverage due to not having a job and checked the site again, I was told I was ineligible for coverage. A rep confirmed that that was incorrect but said there was nothing they could do about it.

    6. Re:Good luck ... by smooth+wombat · · Score: 2

      Furthermore, affordably subsidized individual health care plans are available to all Americans via a high-tech government-run web site.

      Yes, those plans are so affordable their costs are skyrocketing by double digits in many cases.

      So while I have to be leeched off by the smokers, drug users, alcoholics and obese, who never have to change their ways because someone else gets to pick up the tab, the costs keep rising and the insurance companies keep getting richer.

      Which is not unexpected. When you have a captive audience you can charge almost what you want because people are forced to hand over their money to a private company. Quite an odd situation to be in considering all the anti-government/big government/thieving business rantings on this site. One wouldn't expect people to be so happy to give corporate CEOs that much more money.

      --
      We will bankrupt ourselves in the vain search for absolute security. -- Dwight D. Eisenhower
    7. Re:Good luck ... by crmarvin42 · · Score: 2, Interesting

      You all seem to be missing that the 100,000 Genome project is based in the UK, not the US. US insurance policy won't affect her. Even if she emigrated to the US later in life, the "Pre-existing conditions" copout has been removed under the Affordable Care Act (ACA, or Obama care).

      Being jaded and conspiratorial may make you feel cool, but at least make sure you've got your basic facts right first. Otherwise you just look like a stark raving fool.

      --
      Bureaucracy expands to meet the needs of the expanding bureaucracy.-Oscar Wilde
    8. Re:Good luck ... by sjames · · Score: 2

      It really wasn't. You could as easily read it as a call to ban patenting genes found in people or to ban insurance companies taking your genetics into account, or even a call to ban insurance and socialize healthcare.

    9. Re:Good luck ... by Applehu+Akbar · · Score: 2

      The problem with ACA is that it while it makes an initial attempt at bringing more people into the insurance system, it does nothing to control cost. It needs to be modified to allow governments - any government that pays for health care - to buy in bulk and negotiate on the worldwide market. Just as importantly, the same power should be extended to private buying organizations, including groups of patients.

    10. Re:Good luck ... by Duncan+J+Murray · · Score: 2

      Hang on...

      The data for the 100'000 genomes project is held securely as confidential data and is not available to companies. Not that I'm sure what they'd be patenting anyway.

      Luckily this child lives in the UK, so there is no need to worry about being denied medical care for her condition.

      Just understanding the mutation is a long step from being able to do something about, so yes, maybe sometime in the future there will be a patented and very expensive treatment available (or not available as the case may be). However, if someone else wants to develop that treatment and provide it cheaply no one is stopping them. This is not how I'd like the world of pharma to work, but unless a democracy are consciously happy to pay a lot of taxes into a high-risk world of pharmaceutical development, it isn't going to change soon.

  2. Not *ALL* People by Roger+W+Moore · · Score: 2

    You can say a lot about the US but the one thing we've got going here are legions of researchers looking for ways to make people healthier...

    That's not quote correct is it though. You have legions of researchers looking for ways to make RICH people healthier. The conditions which often attract the most research are the ones which affect patients who tend to be more affluent. For life-threatening conditions this is ethically no better than holding a gun to someone's head: pay us lots of money for your treatment or die.