Tuesday, September 4, 2007

Genome sequence of individual human

Here's a cool paper hot off the presses at PL0S Biology:

The Diploid Genome Sequence of an Individual Human

It shows how diverse a single genome can be by comparison with other samples and suggests that, in a nutshell, humans might be slightly less genetically homogeneous than previously thought.


helen elizabeth said...

The article was interesting but seemed a little overblown in its achievements. Isn't there more to gene expression then simply calculating base pairs?

Either way, this article will no doubt fuel the fire to sequence many more individual genomes and provide more accessible/competitive funding for such research in the future in order to futher understand the genotype-phenotype relationship.

helen elizabeth said...

Also, when reading this paper it is interesting to consider where the funding for this particular project comes, as well as the political and legal implications it has had and will have on the population at large. The modus apparatus of biotechnology can be a double edged sword. By eventually correlating the genotype-phenotype relationship to physiological and environmental parameters we must also consider how this affects our approach to medical care and access to that care here both in the Western and developing worlds.

Not to jump on a soap box, but the research being conducted by Venter and others like him usually results in patenting of genetic code, which can mean huge breakthroughs in medical and industrial research in the developed world, but at what cost? Here in South Africa the patent of P57 (the Hoodia plant) had dire social and political consequences for the San people of the Kalahari, not only in terms of profit sharing for using indigenous knowledge but it also impacted their ability to grow, share and sell the plant. This is a huge legal issue throughout the world now and has been coined “Biopiracy" by indigenous rights groups (wikipedia has some other examples).

Probably the biggest legal concern today with genome sequencing and medical research is the issue of privatizing human genetic material (namely among indigenous groups who may have certain resistances to disease, or higher prevalence of certain congenital anomalies, etc.) such as in the case of the Guaymi people of Panama and the Hagahai of Papua New Guinea. These two groups were the subject of patent claims on their genetic material (HTLV-II and HTLV-I, respectively) that were granted to the National Institutes of Health (NIH). The issue often becomes one of high profits in the Western world and larger discrepancies in wealth and access to these advances for those who provide us (the scientists) with the blueprints to our breakthroughs.

How will we approach social and medical outreach and research in the future? To address these concerns requires evaluating our research agenda and recognizing the underlying social and economic repercussions that may materialize—things we often don’t but should consider when moving forward as students and researchers.

Human macroecology admin said...

Here's an article about Venter if you are interested.

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