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By Josh Witten | December 9th 2008 09:35 AM | 7 comments | Print | E-mail | Track Comments
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About Josh Witten

100% of this the rugbyologist's revenue is donated to Doctors Without Borders (Medecins Sans Frontieres). A click on one of my articles is a click that helps bring high quality medical care to the... Full Bio

What is the point of group classification in science? The point is predictive power. Inclusion in a group should tell me usefully accurate information about the individual or item that would require an inconvenient amount of work to learn directly.

I can create a group called "coffee mugs". There are the traditional "coffee mug" characteristics: handle, cute art on the side, and being labeled "not dishwasher safe". The characteristic that I really care about is how well it insulates the beverage (i.e., keeps the heat in the coffee and out of my hand).

If the traditional "coffee mug" characteristics predicted good insulation, then inclusion or exclusion
from the "coffee mug" group would be a good tool for predicting the quality of an individual cup. Consider three cups from the Rugbyologist kitchen. Two "coffee mug" members (handle, cute art, not dishwasher safe) and one non-member (no handle, no art, silent on the dishwasher issue). One coffee mug is a great insulator (Mrs. Rugbyologist's favorite). The second is only good as a hand warmer on cold days. The third cup is also a great insulator, making it useful for coffee and frosty, malted beverages.

"Coffee mugs" is useless classification in the Rugbyologist kitchen, because it failed to predict the phenotype of interest.

When it comes to humans, we care about phenotypes like disease risk. A simple classification system that predicts disease risk would be extremely useful. For race to be that classification system, it needs to predict these phenotypes both accurately and efficiently.

While we can use genetic variation to probabilistically identify the geographic ancestry (although not perfectly correlated with traditional race definitions, some commentators use "race" as an equivalent term) of individuals at the resolution of continents or countries, the broad patterns of human genetic variation, however, are consistent with "Out of Africa" migration and genetic drift (Jorde and Wooding [2004] and Tishkoff and Kidd [2004]). In a recent study, Novembre et al. (2008) found that the first two principal components (corresponding roughly to latitude and longitude) of their sub-population clustering explained only 0.45% of the genetic variation in the total population. Only a tiny fraction of the genetic variation available is distributed in a way to create separate sub-groups. Most of the minimal variation
distinguishing between sub-populations has little, if any, fitness effect.

Racial identification has not provided the predictive power we are seeking in the biomedical setting (Jorde and Wooding [2004] and Tishkoff and Kidd [2004]) and appears to have little power to do better in the future.

Perhaps race would produce better predictions if sub-populations could be defined with better resolution. Novembre et al. (2008) used approximately 500,000 genetic markers to cluster 3000+ Europeans by geographic ancestry. They concluded that their data do not indicate discrete populations. If more sequence markers were used, more discrete or smaller sub-populations would certainly be found. Even if
those sub-populations are predictive, the sequence information required will be on the same scale (or worse) with that required to assess an individual's complement of disease related genetic variants.

Directly identifying the disease related genetic variants, the effect size and penetrance of those variants, and the set of variants possessed by an individual is the path to biomedically useful predictions of individual disease risk (Jorde and Wooding [2004]).

Racial group classification is predictive of one thing: inclusion of the individual in that racial group.

Read more from the Rugbyologist here!

Comments

so if race is useless in predicting disease susceptibility, then it must be useless in all others avenues of prediction as well? what is the argument for that? you wrap up your blog with Racial group classification is predictive of one thing: inclusion of the individual in that racial group. how do you draw this conclusion, if not by something along the lines of my first sentence? perhaps you're involved in a dialogue i'm unaware of, and you are strictly concerned with the biomedical realm, but your blog subject line is rather generalized, as is your conclusion.

jtwitten's picture
The final line was a tautology.  It does, however, express a major problem with the term "race."  The characteristics that racial groups predict reasonably well, such as skin color, are usually used to define the group also.   There are, of course, specific exceptions, such as an increased risk for Tay-Sachs among Ashkenazi Jews.

Race, in general, does not provide biomedically useful information when
dealing with quantitative disease traits (common disorders) (drawn from
the conclusions of Jorde and Wooding [2004] as well asTishkoff and Kidd
[2004] linked to in the article.   Similarly, it is not a good
predictor of other quantitative traits that we might be interested in. 
As our understanding of the genetic basis of disease improves, "race"
will continue to become less relevant as it become equally or more
efficient to sequence a person for disease related alleles as it is to
use genetic markers to establish their "race."

Partitioning populations into sub-populations with reduced genetic diversity and increased linkage disequilibrium between marker polymorphism and causal polymorphisms.  Geographic ancestry clusters derived from genetic markers are conveneient for association studies, because that sequence data would be collected for the study.  The concept of "race," with all its emotional baggage, is not necessary for that partitioning.  It must be emphasized that this partitioning helps these studies by reducing variation, not by identifying increased disease risk (or other phenotype) in that sub-population.

From a scientific perspective, I am only interested in groupings that provide utility.  This site has recently featured much debate about the validity of "race" as a biological concept.  I am addressing the alternative argument that, independent of its validity, the concept of "race" lacks practical utility.  If there are systematic realms of prediction for which "race" is useful, I would be interested to hear suggestions, although I cannot promise to be convinced.

Hi Josh,

I am working to have my work peer reviewed and have for a long time been writing on the internet using a new word: girasas. I think we have need of a new definition for the word race. The general public may not know about the 7 race theory of evolution, but when I do make progress in bringing this theory into public awareness, the word "race" and especially "subrace" will take on meanings that are not currently being explored to any great extent.

A subrace under this new theory of evolution refers especially to a phase in the development of the human while on earth. Each subrace could be distinguished by a continent or land mass as well as a religion that becomes a distinguishing mark of the subrace qualities. The distinction can be ascribed to the separate 7 phases of human descent and ascent with three stages occurring through interactions with an animal kingdom, one stage solo, and three stages occurring with interactions between a girasas kingdom and human kingdom. Basically, the differences are relative to the degree of materialization with the 1st being least material and the 3rd being most material with some remaining influence from the alternate kingdom. The 4th race is a race with no influence from either a higher or a lower kingdom being present and neither ascent nor descent being a primary factor in how humans live.

Hope this might increase the visibility of my work.

Good luck,

Brenda Tucker

...Josh...do you think that race was a more accurate definer of a people, character traits et al prior to the modern day exodus with distant travel and marriage outside of the long standing marriage within the heritage circle? Any more the term African-American is far more a political ploy than a race reality ie: Colin Powell who is lighter skinned than I am and I'm "Dutch"...follow me? With the exponential explosion of race blending marriage around the World it would not take long for a dillution of particular race identifying traits to have a (forgive the crass wording) "mutt" or Heinz 57 outcome. Brenda...the problem with having a "new" theory of evolution is that it won't be long and yours will be replaced with another "new" theory of evolution...especially the phrase "the development of the human while on Earth", is there another place this could happen? If there is an alternate Kingdom....naa I can't go there...

jtwitten's picture
The genetics do not support race ever being a very accurate way to
define people.  There has always been gene flow between geographic
sub-populations.  Perry, your intuition, however, that the gene flow is at an
all time high may be correct.  In the future, it may become impossible to resolve clusters of geographical ancestry, whether one is using morphological characters or genetic polymorphisms.  This would be great news for the human species from the evolutionary perspective.  The effective population size would be increased, increasing the power of selection.  The genetic diversity would increase, making humans more robust to environmental perturbation.

...I like you Josh, I just don't understand why...of course I'm beginning to like Gerhard too, can't explain that either ;-). By the way is genetic diversity the #1 goal of dog breeders? Less chance for problematic afflictions? Natural Selection...sorta

jtwitten's picture
Maintaining genetic diversity in dog breeding populations should have been a goal, but it has not.  Intense selection over short time periods on morphological characters, both ones important for the dog's role and those that were only correlated with behavioral characters, resulted in massive inbreeding in the traditional breeds. 

Avoiding homozygosing deleterious alleles is one reason given by people that prefer mutts.

My love of dogs and dislike for the American Kennel Club will be a separate post.

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