First Children Have Been Diagnosed In 100,000 Genomes Project (bbc.com) 75
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.
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We are all moocow guy. Moo you damned moocow guys, MOO!!
You too can be moocow guy!
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Good luck ... (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?
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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.
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It is already illegal to patent genes found in people. It is already illegal for insurance companies to take your genetics into account.
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Or ban insurance companies, and everyone goes back to paying for their own stuff.
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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.
Not *ALL* People (Score:3)
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.
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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.
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You've never heard the phrase "patent medicine"? Granted, it usually applied to "snake oil", but the concept has long been valid. For example, U.S. patent 2834711 (1958) is a production method for bacitracin, a continuation of an abandoned patent application first made in 1953.
Patent medicines were never patented, they were trademarked. Bacitracin was first discovered to be an antibiotic in the early 1930s. Like penicillin, it occurred naturally. And was pretty effective. The patent you are referring to was for a way to produce it in greater quantities. In reality, it was about culturing and growing it on a larger scale. That patent didn't prevent anybody from producing it the old way.
Today's drug patents can't be separated from the process to produce them. You cannot come up
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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.
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For now... You don't know when they are going to redefine the definition as they did before on other types of genes...
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No, but using the information from them for any meaningful purpose can and has been.
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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.
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Yes, those plans are so affordable their costs are skyrocketing by double digits [forbes.com] in many cases [kff.org].
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
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The ACA also has requirements on the portion of premiums insurance companies are required to spend on care, which limits the predatory profit approach you describe by insurance companies (https://www.healthcare.gov/health-care-law-protections/rate-review/).
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I can pay for my own medical care.
See how that works?
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Sure, you pay for the smokers, drug users, alcoholics, and obese now...but if you get cancer or get hit by a bus then they will be paying for you. See how that works?
False equivalence. The expected cost (risk times cost) which you pay for them is higher than the expected cost which they pay for you. It doesn't balance out. You are paying more than you should because the insurance company isn't allowed to set proper premiums which reflect each customer's actuarial risk.
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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.
Actually in the USA the Affordable Care Act (aka Obamacare) specifically prevents insurance companies from denying coverage because something is a "pre-existing condition". The article linked to seems to imply that the girl lives in the UK so ACA/Obamacare worries are not in play anyway. I can't speak to whether some company would patent her genes in the UK as I don't know the law there, but off the top of my head I would guess that European privacy laws would likely prevent that.
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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.
Actually in the USA the Affordable Care Act (aka Obamacare) specifically prevents insurance companies from denying coverage because something is a "pre-existing condition".
And I hope that all the people who want to repeal the ACA remember that ... Though -- to be fair -- sometimes (usually?) proof of continuous insurance coverage satisfies the waiting period for pre-existing conditions, so it may be a wash. I imagine that there are other things in the ACA that people will actually miss, once they're gone (like dependents using their parent's insurance until age 26) ...
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In 20 years. . . some asshole corporation will claim to own the genes and therefore any possible treatment.
Aside from the unpatentability of genes in the US, the patent term is less than 20 years anyway.
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Medical technology is growing FAR faster than either medical ethics, or the laws surrounding what can be done with this information.
No, the technology is growing faster than your awareness of the changes to medical ethics and law. For instance, it's quite apparent that you're unaware of the 2008 Genetic Information Nondiscrimation Act [wikipedia.org], which specifically prohibits exactly the sort of behavior you're talking about. It's been the case for nearly a decade that insurers are prevented from denying coverage on the basis of a disorder that has been detected via genetic testing but that has not yet presented any symptoms.
And medical practitione
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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.
This is a publicly funded project in the UK, which has universal healthcare free at the point of delivery (the NHS). Any IP will be owned by Genomics England, a company owned by the UK Government. They intend to set up licensing agreements with the commercial sector on 'favourable terms'. These terms aren't precisely defined, at least publicly, and I imagine the drug and medical testing companies (who must pay to join a consortium with Genomics England if they want to work with them) may have a different de
pre-existing condition only in the USA and even th (Score:2)
pre-existing condition only in the USA and even then all-kids, st jude will cover it up to the age limit after that the ER, JAIL , prison takes of the slack.
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"some asshole corporation will claim to own the genes and therefore any possible treatment."
Problems with the legal system are not faults of the technology. We are breeding too many lawyers, which is also not a problem with the technology.
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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 b
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And now a company will patent her genes...
Nope. Not unless her mutation isn't found in nature and had to be manipulated to be created.
From SCOTUS' ruling in 2013 about BRCA1/2: "A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated."
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Where did they find the changes? (Score:2)
Were the mutations found in the genome or the exome? Is this project sequencing the entire genome, or just the exome? Given that exome mutations are thought responsible for 85% of genetic disease out there, wouldn't it be more useful to have a 100,000 exomes project first?
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This project does whole genomes. Even at commercial rates, a 30x depth whole genome is only 2-3x more expensive than an equivalent exome (the difference may be smaller on the scale they are doing this, and sequencing is probably getting cheaper more quickly than target capture, narrowing the gap further). Genomes also give more even coverage at similar depth (capture bias means that some regions are never represented well in exomes, and it's possible to miss exonic mutations that are supposedly covered by t
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That's great to know! Is such depth enough to do meaningful random mutation detection without dealing with a lot of sequencing errors? I don't really know how it works, that's why I ask.
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30x is generally considered adequate for variant calling from routine whole genome sequencing using standard Illumina technology, which has a reasonable error rate. But this figure (30 reads covering each base) is just the average of a Poisson distribution - according to Illumina 'the data would be expected to fall to 15x or below about 0.2% of the time', so there will always be some poorly covered bases where we can't confidently call variants.
The biology can also make things interesting - e.g. mosaicism a
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Thanks! I've learned something new.
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US has at 1,000,000 genomes project or two (Score:2)
http://www.technologyreview.co... [technologyreview.com]