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Biotech Medicine

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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First Children Have Been Diagnosed In 100,000 Genomes Project

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  • Good luck ... (Score:4, Interesting)

    by gstoddart ( 321705 ) on Tuesday January 12, 2016 @11:33AM (#51287021) Homepage

    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?

    • by Gr8Apes ( 679165 )
      Human genes cannot be [cnn.com] patented [theguardian.com].
      • For now... You don't know when they are going to redefine the definition as they did before on other types of genes...

      • by sjames ( 1099 )

        No, but using the information from them for any meaningful purpose can and has been.

        • by Gr8Apes ( 679165 )
          I believe that's limited to specific testing techniques. That BRAC1 is related to increased breast cancer risk has no meaningful restriction on it.
    • 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.

      • 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) ...

    • 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.

    • by EvilSS ( 557649 )
      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 dis
    • 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

    • by RDW ( 41497 )

      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 then all-kids, st jude will cover it up to the age limit after that the ER, JAIL , prison takes of the slack.

    • A company can't patent her genes. Companies can (and do) patent tests for genes, or synthetic genes they created, but not hers. Also, wasn't a big part of Obamacare the new stipulation that insurance companies can't deny you coverage due to pre-existing conditions?
    • "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.

    • 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

    • 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."

  • 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?

    • by RDW ( 41497 )

      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

      • by tibit ( 1762298 )

        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.

        • by RDW ( 41497 )

          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

    • This project does the whole genome. Whole genome is arguably easier and more useful - it's easier in that collecting samples for a whole exome project would require a lot of different tissues, and technically speaking it's also a bit easier.
  • Craig Ventor, who supplied the first genome, intends to sequence a million by 2020. Not a shy guy.
    http://www.technologyreview.co... [technologyreview.com]

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