There's even discussion that the whole rationale for genome-wide association studies using single nucleotide polymorphisms (SNPs) might be somewhat flawed. The effect of rare SNPs, which are not easily assessed using the current size of GWAS studies, and of copy number variants, might be much larger than previously thought. In short, I think there will likely be a lot of benefit for individuals down the road but it's clear there is a lot to learn before that becomes a reality.
Trends in Biotechnology
Notes from the 2009 BIO-IT World Conference & Expo
Great people, fascinating topics in sessions and conversations...we churned through a lot of data (using grey matter and discussion, those fruitful old-fashioned processors) and have arrived at our listing of the top trends in our field....
Thoughts on the Future of Personalized Medicine
There was a panel discussion at Bio-IT World that focused on personalized medicine. It included people from Navigenics, Knome, the 1000 Genomes Project, and Complete Genomics, among others. It's clear that genotype data, and soon complete genomic sequence data, will be available for a large number of people. However, you do have to make the distinction between genetic risk data that is useful for the scientific community for research purposes, and that which is useful for a particular individual. There's no doubt that the results of genome-wide association studies (GWAS) are providing a lot of interesting data for researchers and informaticians, but the leap to say that this data is useful for the individual is less obvious. Most genetic risk factors are relatively weak by themselves, and often provide a prediction of increased risk that is very modest. Additionally, such risk factors as APOE for Alzheimer's don't come with any preventative treatment options so it's unclear what benefit they have for the individual.
posted by Will FitzHugh at
5:00 PM
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