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Biotech Medicine

Hunting Disease Origins By Whole-Genome Sequencing 124

ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."
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Hunting Disease Origins By Whole-Genome Sequencing

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  • scary part of TFA (Score:1, Insightful)

    by Anonymous Coward on Friday March 12, 2010 @08:17PM (#31459198)

    But cost-wise, personal genomes may not be far off. For example, Bird at the University of Washington says that a comprehensive genetic screen for inherited nerve diseases costs about $15,000. Researchers estimate that Lupski's genome cost about $50,000. And Complete Genomics, a startup in California that sequenced the family in Hood's study, will soon offer bulk sequencing services for about $20,000 a genome, with a $5,000 price tag not far behind.

    How long before sequencing becomes part of a routine physical exam, and having the disease-prone genes becomes a pre-existing condition for health insurance purposes?

  • Re:Can of Worms? (Score:4, Insightful)

    by WillDraven ( 760005 ) on Friday March 12, 2010 @08:18PM (#31459216) Homepage

    Maybe not yet, but it sure is hard to begin fixing something before you know why it's broken.

  • by Anonymous Coward on Friday March 12, 2010 @08:21PM (#31459268)

    So instead of changing the corrupt health care system, you want to ban life-saving technologies? Get back to your third-world shithole. Americant.

  • Re:Can of Worms? (Score:1, Insightful)

    by Anonymous Coward on Friday March 12, 2010 @08:50PM (#31459658)

    I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

    You're not an american, I take it.

  • by Idiomatick ( 976696 ) on Friday March 12, 2010 @09:34PM (#31460068)
    Yeah, itd suck to have drugs individually tailored to your genes. They'd work like, way better. Plus you could get information on maldies that you might come across. Hell you may be able to work pre-emptively to avoid getting them.

    Honestly there are tons of reasons why this is a GOOD THING.
  • by Daniel Dvorkin ( 106857 ) * on Friday March 12, 2010 @10:14PM (#31460448) Homepage Journal

    People in the sequencing biz talk about the "thousand dollar genome" as kind of the magic number, and the consensus is that we can expect to get there in five years or so. At that point, yes, it will be a routine part of everyone's medical record. As for discrimination, the best we can do is guard against it; the Genetic Information Nondiscrimination Act (GINA) [] is a very good start. There is no way in hell that we are going to turn our backs on the enormous medical potential of cheap, nearly universal sequencing because of fears cobbled together -- as most anti-genetics rants seem to be -- out of massive ignorance and half-remembered ideas picked up from Frankenstein, Jurassic Park, and Gattaca.

  • Re:Can of Worms? (Score:3, Insightful)

    by GNUALMAFUERTE ( 697061 ) <> on Friday March 12, 2010 @10:19PM (#31460488)

    They ARE contaminating the gene pool, and whether you like it or not, they should not be allowed to reproduce. Here's my idea: You want society's help? Get sterilized, and then we'll help you. We won't sterilize you forcefully, but if you want our help, that's our price.

    In the past, weak people died, strong people lived, and eventually that lead us to where we are. Instinct brought us here, and It wasn't the instinct of the weak and diseased.

    We, as a society, can help and fix the diseased, but doing that messes with evolution, effectively shutting it down. In today's society, the weakest, less intelligent and poorly educated reproduce more than the rest of us. Yes, there's a very funny movie about it that gets quoted just a little bit too often.

    So, it's our duty to make up for that. We either stop treating them, stop giving them social help, etc. , or we help them fully, but make sure they don't reproduce.
    It's either that, or face our own destruction a few centuries from now, when most of us will be a hoard of diseased and retarded individuals.

  • Re:Can of Worms? (Score:3, Insightful)

    by Anonymous Coward on Friday March 12, 2010 @10:30PM (#31460556)

    What if the gene pool that YOU choose to eliminate might save mankind one day?
    >Since the gene is incompletely recessive, carriers can produce a few sickled red blood cells, not enough to cause symptoms, but enough to give resistance to malaria.

  • Re:Can of Worms? (Score:3, Insightful)

    by blackraven14250 ( 902843 ) on Friday March 12, 2010 @10:40PM (#31460632)
    Or, maybe we could provide that $250,000 treatment to each other at a much more reasonable price in order to preserve a larger diversity of the gene pool, which is in the long run even better for humanity than forceful sterilization.
  • Re:Can of Worms? (Score:3, Insightful)

    by Anonymous Coward on Saturday March 13, 2010 @06:24AM (#31462854)

    The entirety of your argument is based on a logical fallacy that there is some "obligation" that humans have towards evolution, which you keep repeating on and on. It carries with itself the idea that we are entirely capable of understanding the complexity of the ecosystem and we should actively intervene so that we don't "break" it in any way.

    "Diversity is no good if there's no natural selection" - this argument, while it sounds nice and logically founded, is really not much more than a nicely-presented opinion. How do you know that diversity is "no good" if there's no natural selection? For what we know, humans are the first species that has allowed themselves to advance to a level where natural selection does not happen by predators. Which brings me to the point that "there's no natural selection" is an untrue statement - we still suffer from diseases and natural disasters. What's really naive in your argument however, is the fact that we simply don't know where the evolution will lead us as a species. You talk in a way that would suggest you can predict the future, and the way we're acting is "no good" for us and the future generations.

    The irony here is that this inner need to care after the weaker and the sick, the desire to form relationships not based on a materialistic purpose and many other characteristics have allowed Homo sapiens to reach this civilizational and technological level - a level where someone, using a device that showcases the genius of the species, communicates through another medium that showcases the genius of the species, that this approach is wrong and "no good". What you're saying is fundamentally no different than the arguments touted by eugenicists in the twentieth century. It feels comfortable and good telling other people that they should be sterilized, in a way projecting your sense of superiority on them. That is, until it turns out that someone decides you should be sterilized as well.

    Stop trying to decide other's fate based on your false sense of understanding the complexity of nature.

  • Re:Can of Worms? (Score:3, Insightful)

    by tsa ( 15680 ) on Saturday March 13, 2010 @10:46AM (#31463872) Homepage

    I have never heard such complete bullshit in my life.

Some people carve careers, others chisel them.