Genetic Future

In the comments to a previous post defending big genetics, Andro Hsu relates an anecdote that warrants repeating:

IIRC, at the December NIH/CDC meeting Francis Collins suggested that the way to get to the bottom of the missing heritability, the common disease common variant hypothesis, gene-gene and gene-environment interactions, etc. etc. is to run a population-wide, 20-year longitudinal study in which genome-wide data and detailed environmental and behavioral minutiae were tracked for 100,000 participants.

The follow-up commenters starting with John Ioannidis each upped the sample size by an order of magnitude, until someone suggested that the entire U.S. population be sequenced, which it was then realized would require universal health care.

At that point, the meeting ended.

The scary part is that even a study that large might not be large enough: under certain models for the genetic architecture of complex traits (e.g. thousands of common risk variants with tiny effect sizes and substantial interaction between them) the whole US population (or even the entire world’s population) might not be large enough to capture the missing heritability, especially given the challenges introduced by sample heterogeneity and measurement error in a study of that magnitude.


  1. #1 Keith Robison
    August 21, 2009

    Maybe you could start with Iceland, following in DeCode’s footprints :-)

  2. #2 razib
    August 21, 2009

    the whole US population (or even the entire world’s population) might not be large enough to capture the missing heritability

    the string theory of genetics!

  3. #3 Comrade PhysioProf
    August 21, 2009

    And we’ll learn that every gene influences every biological process. Then what?

    [edited for clarity – DM]

  4. #4 Andro Hsu
    August 26, 2009

    The Genetics & Public Policy Center has received funding to study public attitudes toward a large, U.S. population-based study of genes and environment.

    “A large, population-based study likely would involve the participation of hundreds of thousands of U.S. volunteers, who would be followed for a period of many years to ascertain and quantify the major environmental and genetic contributors to common illnesses.”

  5. #5 Dan Vorhaus
    September 2, 2009

    What’s interesting to me is that the numbers that Collins started out with sound very much like what we would expect to see if the Genomics and Personalized Medicine Act (GPMA), which had Obama as its sponsor in the Senate in 2006 and 2007, and was introduced in the House in 2008, is ever passed. With Collins at NIH and Obama in the White House, there’s a real possibility that the GPMA, or something like it, will finally get off of the crowd.

  6. #6 antipodean
    September 16, 2009

    If it requires 3000 million years of person observation to detect it aint very important.

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