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posted by Fnord666 on Wednesday June 28 2017, @08:21AM   Printer-friendly
from the don't-fear-the-sequencer dept.

Don't be scared. It's just one little genome:

Advances in technology have made it much easier, faster and less expensive to do whole genome sequencing — to spell out all three billion letters in a person's genetic code. Falling costs have given rise to speculation that it could soon become a routine part of medical care, perhaps as routine as checking your blood pressure.

But will such tests, which can be done for as little as $1,000, prove useful, or needlessly scary?

The first closely-controlled study [DOI: 10.7326/M17-0188] [DX] aimed at answering that question suggests that doctors and their patients can handle the flood of information the tests would produce. The study was published Monday in Annals of Internal Medicine.

"We can actually do genome sequencing in normal, healthy individuals without adverse consequences — and actually with identification of some important findings," says Teri Manolio, director of the division of genomic medicine at the National Human Genome Institute, which funded the study. Manolio wrote an editorial [DOI: 10.7326/M17-1518] [DX] accompanying the paper.


Original Submission

Related Stories

Study Predicts Appearance From Genome Sequence Data 10 comments

Anonymity continues to die a little every day:

The physical traits predicted from genome sequence data may be sufficient to identify anonymous individuals in the absence of other information, according to a study set to appear in the Proceedings of the National Academy of Sciences this week.

After looking for links between physical phenotypes and whole-genome sequence data for more than 1,000 individuals from a range of ancestral groups, researchers from the US and Singapore took a crack at predicting biometric traits based on genetic data with the help of a newly developed algorithm. In a group of de-identified individuals, they reported, the algorithm made it possible to identify a significant proportion of individuals based on predictions of three-dimensional facial structure, ethnicity, height, weight, and other traits.

"By associating de-identified genomic data with phenotypic measurements of the contributor, this work challenges current conceptions of genomic privacy," senior author Craig Venter, of Human Longevity and the J. Craig Venter Institute, and his co-authors wrote. "It has significant ethical and legal implications on personal privacy, the adequacy of informed consent, the viability and value of de-identification of data, the potential for police profiling, and more."

[...] [Genome] sequences [...] are not currently protected as identifying data under the US Health Insurance Portability and Accountability Act's Safe Harbor method for ensuring anonymous and de-identified patient information.

Also at Bio-IT World, PRNewswire, and San Diego Union Tribune.

Previously: Creating Wanted Posters from DNA Samples

Related: EFF to Supreme Court: The Fourth Amendment Covers DNA Collection
Kuwait Creating Mandatory DNA Database of All Citizens, Residents--and Visitors
Massive DNA Collection Campaign in Xinjiang, China
Routine Whole Genome Sequencing: Not Scary?


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  • (Score: 3, Informative) by MostCynical on Wednesday June 28 2017, @08:53AM (1 child)

    by MostCynical (2589) on Wednesday June 28 2017, @08:53AM (#532333) Journal
    --
    "I guess once you start doubting, there's no end to it." -Batou, Ghost in the Shell: Stand Alone Complex
    • (Score: 1) by shrewdsheep on Wednesday June 28 2017, @10:16AM

      by shrewdsheep (5215) on Wednesday June 28 2017, @10:16AM (#532352)

      That is true in Europe true (the countries I know). You do not have to disclose elevated risk though (genetic diseases in the family). The compromise is therefore: once you become aware of elevated risks, get your insurance, then get testing. Genetic counseling has to explicitly mention this point. The study conclusion is negative and I would have expected this. Consequences of many genetic alterations cannot be predicted (so called ExAC project) in many cases which will still be the case for a couple of years at least.

  • (Score: 1, Insightful) by Anonymous Coward on Wednesday June 28 2017, @08:58AM

    by Anonymous Coward on Wednesday June 28 2017, @08:58AM (#532334)

    Politician tier stats knowledge + scary tabloid headlines about the [terrorist | paedo | criminal | psychopath | boogyman] 'gene' will make for a total shitshow of programs and maybe laws as well-considered as tech laws.

  • (Score: 0) by Anonymous Coward on Wednesday June 28 2017, @09:16AM (4 children)

    by Anonymous Coward on Wednesday June 28 2017, @09:16AM (#532338)

    Why would you need your DNA sequenced often?

    • (Score: 2) by WizardFusion on Wednesday June 28 2017, @10:15AM (1 child)

      by WizardFusion (498) on Wednesday June 28 2017, @10:15AM (#532351) Journal

      Because the open database that stored all the information was hacked and the data deleted. They need to make sure they have your DNA on file at all times, just in case.

      • (Score: 2) by c0lo on Wednesday June 28 2017, @11:13AM

        by c0lo (156) Subscriber Badge on Wednesday June 28 2017, @11:13AM (#532369) Journal

        Because the open database that stored all the information was hacked and the data deleted. encrypted by ransomware; with our health budget, they couldn't afford to upgrade from WinXP (serves them well, whinging bitches)

        Yours, Jeremy Cu^H^HHunt

        FTFY

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        https://www.youtube.com/watch?v=aoFiw2jMy-0 https://soylentnews.org/~MichaelDavidCrawford
    • (Score: 4, Interesting) by Immerman on Wednesday June 28 2017, @12:16PM

      by Immerman (3985) on Wednesday June 28 2017, @12:16PM (#532390)

      Yours - not a whole lot.

      But how about doing a full sequencing of *all* the DNA in your bloodstream? Every pathogen, parasite, and symbiote sequenced and categorized. No more trial-and-error about figuring out what's causing your symptoms, or at least far less - we know you're carrying pathogens A, D, and R which might contribute to your symptoms, and that D has been present in your last several tests without causing apparent problems, so it's probably A and/or R that are the real problems.

    • (Score: 0) by Anonymous Coward on Friday June 30 2017, @07:22AM

      by Anonymous Coward on Friday June 30 2017, @07:22AM (#533328)

      Cuz proprietary file formats FTW!

  • (Score: 0) by Anonymous Coward on Wednesday June 28 2017, @10:51AM (5 children)

    by Anonymous Coward on Wednesday June 28 2017, @10:51AM (#532365)

    How far back do you have to go, so that blood pressure tests cost $1000?

    • (Score: 2) by c0lo on Wednesday June 28 2017, @11:18AM

      by c0lo (156) Subscriber Badge on Wednesday June 28 2017, @11:18AM (#532371) Journal

      How far back do you have to go, so that blood pressure tests cost $1000?

      Not much. Say... next year? At the rate the heath insurance cost raises, we'll have regressed just enough by then to satisfy you.

      --
      https://www.youtube.com/watch?v=aoFiw2jMy-0 https://soylentnews.org/~MichaelDavidCrawford
    • (Score: 2) by Immerman on Wednesday June 28 2017, @12:07PM (3 children)

      by Immerman (3985) on Wednesday June 28 2017, @12:07PM (#532387)

      At the rate gene sequencing costs are falling, they've been knocking a zero off that price every few years - one of the few things to radically outperform Moore's Law. It's not unreasonable to expect it to be not much more expensive than a more typical blood test within the decade.

      • (Score: 2) by takyon on Wednesday June 28 2017, @12:58PM (2 children)

        by takyon (881) <takyonNO@SPAMsoylentnews.org> on Wednesday June 28 2017, @12:58PM (#532406) Journal

        I think the idea in your other comment makes a lot of sense. The DNA test will get rolled in as an optional extension of the blood test at almost $0 extra cost since the real costs will be shipping and handling, cold storage, labor, or automated robot labor. And you'll get a sense of the "population" existing in your blood. This would be partial sequencing at first, but would expand to include whole genome sequencing of everything in your blood. So the pathogens could be detected and compared with precision to known strains to determine what effects their mutations have caused. I'm not sure if viral DNA would be picked up... yes?

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        • (Score: 2) by Immerman on Wednesday June 28 2017, @01:12PM (1 child)

          by Immerman (3985) on Wednesday June 28 2017, @01:12PM (#532413)

          It should be I think - viral DNA is still normal DNA, the only question would be whether the protein shell would need special consideration to rupture. Though, given the nature of viral replication, there may be plenty of "leftover" DNA free-floating through your bloodstream as well.

          • (Score: 2) by HiThere on Wednesday June 28 2017, @09:01PM

            by HiThere (866) Subscriber Badge on Wednesday June 28 2017, @09:01PM (#532640) Journal

            Some viral genes are RNA rather than DNA. Some of the worst ones. (Still, that shouldn't be a big problem, except that RNA is less stable than DNA.)

            --
            Javascript is what you use to allow unknown third parties to run software you have no idea about on your computer.
  • (Score: 2) by Rivenaleem on Wednesday June 28 2017, @02:32PM (1 child)

    by Rivenaleem (3400) on Wednesday June 28 2017, @02:32PM (#532457)

    There likely was a time someone said "Is it needlessly scary being able to tell your heart rate and blood pressure so easily?" It was there a lot in Star Trek TNG, where Bartley with access to all the equipment and the computer library was able to scare himself with whatever random disease he thought he might have. I just hope, that by the time a full DNA check IS as easy as a blood pressure check (ie, you can do it yourself) so too will our ability to interpret the information be as easy as a blood pressure check.

    As little as $1,000 is not the same as the cost to do a BP check, so we're still a ways away yet (unless that's what a BP check costs in the US). I don't see us getting to Gattaca levels of DNA checking any time soon.

    • (Score: 2) by takyon on Wednesday June 28 2017, @03:19PM

      by takyon (881) <takyonNO@SPAMsoylentnews.org> on Wednesday June 28 2017, @03:19PM (#532484) Journal

      $1,000 is cheap if you do it once and use the genomic data in future visits. It doesn't make sense to sequence your genome multiple times unless you are measuring the degradation of random cells or something. Or sequencing DNA from tumors. There's also talk of getting $1,000 down to $100.

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  • (Score: 2) by Phoenix666 on Wednesday June 28 2017, @04:44PM (2 children)

    by Phoenix666 (552) on Wednesday June 28 2017, @04:44PM (#532517) Journal

    I would like to fully sequence my genome as long as I could be sure I'd be the only one who'd have that information, and I'd be the only one who'd know about any red flags. I don't see how that would be possible under any existing corporate or government regime. If somebody wanted to sequence my genome without my knowledge or permission they could always follow me around and collect a glass I've drunk out of or something, but they should at least have to work for it. I wouldn't just hand it to them. I wouldn't even trust a "home DNA sequencer" machine, should such a thing come to exist, because there have been too many cases of machines and systems phoning home with our data. Best case to sequence your own genome now without being spied on would be to have a buddy in a university lab with access to one who'd run it for you in exchange for a case of beer or something.

    --
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    • (Score: 2) by takyon on Wednesday June 28 2017, @06:15PM (1 child)

      by takyon (881) <takyonNO@SPAMsoylentnews.org> on Wednesday June 28 2017, @06:15PM (#532552) Journal

      Best case to sequence your own genome now without being spied on would be to have a buddy in a university lab with access to one who'd run it for you in exchange for a case of beer or something.

      Then you run into the next problems:

      1. Getting free software paired with data sources capable of telling you something useful about your genome (or other DNA sample).

      2. Interacting with the medical establishment in a way that protects your privacy but still allows you to get treatment targeting your genome.

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      • (Score: 2) by Phoenix666 on Wednesday June 28 2017, @08:42PM

        by Phoenix666 (552) on Wednesday June 28 2017, @08:42PM (#532626) Journal

        1. Getting free software paired with data sources capable of telling you something useful about your genome (or other DNA sample).

        Pfah, no need. I know perl.

        2. Interacting with the medical establishment in a way that protects your privacy but still allows you to get treatment targeting your genome.

        That seems a little hypothetical yet, because personalized medicine hasn't really arrived on the practitioner level. Doctor-patient confidentiality would seem to still apply, though.

        --
        Washington DC delenda est.
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