Went to Francis Collins’ afternoon talk “fireside chat” with David Baltimore on the future of medicine, as illuminated by genomic work. Too much introduction and rambling biographical information, but some good discussion anyway. I thought his best comments had to do with the positive effects of the open data model that the Human Genome project initiated – it’s had a long lasting impact on the entire field of genomics, and thank goodness! Also, he mentioned that as of now, there aren’t any major studies seeking to correlate and analyze the relationships between genotypes, phenotypes, and environment in the human population, and that such a study is really what’s needed to truly understand what’s actually heritable, what our real low frequency (rare allele) genetic variation is like, and what kinds of effects environmental factors play. He pointed out, interestingly, that we don’t need to wait until thousand dollar genomes are available to start this study – what we need to do is get people signed up, and start tracking their health history and environmental factors, and we can sequence them when it becomes cheap enough. He suggested that we ought to do this for roughly 500,000 people, and that it would likely cost on the order of half a billion dollars a year, and need to run for a few decades. And then we’d know, and medicine would be forever changed. He also suggested that those $1000 genomes are likely on the order of 5 years away. Really, once we’ve got fast, cheap sequencing – this study will almost do itself, so long as we can at some point get access to the medical histories and genomes of people. The real value add is in starting it now, so we have the information as soon as possible, and in getting all the environmental/lifestyle data, in addition to the healthcare records.
Continue reading Francis Collins at Caltech and the future of genomic medicine