Sunday, November 16, 2008

The relevance of genomic information

I don't know about you but I am overwhelmed and energized by the recent explosion in interest in the relevance of gene knowledge to human difference. For several years we have been sequencing and profiling genes looking for aberrant genes and SNPs in the hope of identifying critical variants that explain disease risk, behavior, physical looks and so on. Only recently have we reached the point of understanding where can begin to realize the enormity of the task ahead in personalized meedicine. Recent papers in Nature have told us that the one-gene one-product hypothesis is only true for about 6% of our 20,000 or so genes. This is comforting given that our absolute gene number seems to equate with a mere nematode worm. The worm's genes can't seem to multi-task as well as ours do so it seems we are more evolved after all. Phew. This multi-tasking nature of most of our genes arises because a particular gene is separated along the DNA by areas of non-relevant DNA (to that gene at least) which means the gene can be read in a number of ways depending on the physical configuration of the DNA and possibly according to the influence of regulatory genes. This leads to 'alternative splicing' which results in different proteins being produced by a given gene. This finding is fascinating. No wonder SNP research has yielded so little in terms of identifying disease causing genes. The SNP is such a minoscule part of the altnertive splicing universe. Every issue of Science and Nature lately seems to have a plethora of articles and editorials on gene findings and their relevance to humans. I sense we are on the verge of a tipping point that will lead to novel hypotheses about the degree of determinisim we can reasonably expect from our genes. I'm excited about what we will come up with but hesitant because I know how long it can take to shift a paradigm. I hope we do not continue with more of the same and hope for some different conclusions. The alternative splicing effect should give us pause for thought; a reason to step back and question our assumptions about the role of genes and what we can expect from personalized medicine research in the future. What a fortunate time to be a biologist after all those years of sequencing and collecting the data--we can now begin to really look for the story our genes seem ready to tell.
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