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Genetic Information on Major Diseases Uncovered

gollum123 writes "A major advance in the genetic understanding behind several of the world's most common diseases is being reported by the BBC. A study tested some 17,000 people to find genetic markers for the various diseases. 'They found new genetic variants for depression, Crohn's disease, coronary heart disease, hypertension, rheumatoid arthritis and type 1 and 2 diabetes. The Wellcome Trust Case Control Consortium (WTCCC) involved 50 leading research groups analyzing the DNA from 2,000 patients for each of the seven conditions and 3,000 healthy volunteers. One of the most exciting finds was a previously unknown gene common to type 1 diabetes and Crohn's disease, a type of inflammatory bowel disorder, suggesting that they share similar biological pathways.' There is also disease by disease data at the BBC."

5 of 176 comments (clear)

  1. Replication of Results? by dorpus · · Score: 3, Informative

    Speaking as a statistical genetics insider, I can tell you that the replication of results in this field is very poor. A team of scientists somewhere will announce they found a gene for XYZ, which is reported in scientific journals and mainstream media -- however, the findings fail to be replicated by other scientists, and the negative results are usually not published. Over the years, hundreds of scientists have claimed to find genes responsible for diabetes, hypertension, autism, etc.

    Since there are tens of thousands of genes in the genome, a study with 17,000 subjects makes for less than one subject per gene. (Exactly how many "genes" are in the genome anyway? What exactly defines a "gene"? That is another vast topic.)

    Statistically speaking, there should be at least ten subjects per covariate (gene) tested. There is a great deal of hoo-haa over microarrays, but the more you learn about microarrays, the more you will learn just how unreliable they are. The same "disease" can have vastly different pathophysiologies and genetic origins across population groups. Epigenetics, penetrance, expressivity, intron effects -- all multiply the complexity exponentially.

    In short, genetics is to biology what nuclear fusion is to physics -- a promising technology that will remain a "few years away" for decades to come.

    1. Re:Replication of Results? by tOaOMiB · · Score: 2, Informative

      You don't sound much like a statistical genetics insider to me.

      Statistically speaking, you don't need 10 subjects per covariate. Where did you pull that number from? Let's say we have 100 subjects (50 cases, 50 controls), and 100 tests that we're performing. Let's say one of those tests segregates perfectly with our subjects. Bam! Huge result statistically. The probability of that result is astonishingly small (p ~ 10^-30). That means unless we are performing close to 10^30 tests, we can believe this result. So there's no law about number of subjects per covariate tested--with more tests, you just need a stricter p-value. By the way, hundreds of thousands of tests were performed, since one tests for association to genetic variability (in this case single nucleotide polymorphisms (aka SNPs)), not to genes. Genes reported are typically the nearest gene to the SNP.

      So, in a good study, with appropriately stringent tests, one can believe the results. However, I agree replication is necessary, especially since many labs don't hold to the rigor that is required. However, you are wrong about two things. First, negative results are in fact published in this field. Second, many many associations have been replicated in completely independent cohorts (and oftentimes even different populations!). See here for an example about this very study! or here for another diabetes replication.

    2. Re:Replication of Results? by comp.sci · · Score: 2, Informative

      What many people fail to realize is that genetic testing is already being done, routinely, all over the world. (Yes, also in the US)

      Typically termed Genetic Newborn Screening, a newborn is tested against a number of diseases before being discharged from the hospital.
      See the following for some information:
      http://learn.genetics.utah.edu/teachers/units/newb orn/NGS-student%20packet.pdf

      So your comment that genetics is just a promising technology for years to come is, at least somewhat wrong. It's here already, in many other forms as well. (Think genetically engineered foods for instance)
      I will agree however, that there is huge potential and on the large scale, we are probably still in the dark ages of genetics at the moment...

  2. Re:Have They Discovered:? by WilliamSChips · · Score: 2, Informative

    Although Margaret Sanger was indeed a eugenicist she was not a Nazi and in fact considered the Nazis to be "sad and horrible". Actually the biggest supporters of Mussolini in the United States were the businessmen, and we all know about Henry Ford.

    --
    Please, for the good of Humanity, vote Obama.
  3. How insurance companies earn money by paulthomas · · Score: 2, Informative

    Insurance underwriting can break even and still be rational. Much of the money made by insurance companies is made by investing premium dollars into marketable securities (corporate and gov't bonds, stocks, etc.), from which the company derives investment income. In the break even situation, this is equivalent to borrowing money at a zero % interest rate, investing the proceeds at a higher interest rate, and paying off the loan at the end of its term. If underwriting is profitable, it is like borrowing money at a negative interest rate, amplifying the result.

    This is possible because of the time lag between the payment of premiums and the payouts for insured losses. Insurance companies have billions of dollars of insurance in force spread over many different policies, so it is the average loss experience that counts.

    In short, an insurance company can price policies that don't make a profit in unadjusted dollar terms and still be profitable as an insurance company (granted, its much easier if you avoid writing loss-making policies).