Wednesday, June 10th 5:00 - 6:00pm
On Wednesday, June 10th, one of the true pioneers of genomics, Francis Collins gave the keynote talk closing the second day of the conference. For the first time, a few of the DTC companies learned that they had received and tested a sample submitted by Collins."I think if we all work together on this we have a chance of doing what we've promised all along … we're going to revolutionize medicine
""It will be amazing to see how this conference grows over the coming years, now there are rows of exhibitors, in a few years there will probably be an entire exhibition hall
The talk was upbeat regarding personal genomics and was covered well by Genome Web
. On site at the conference, from Genome Technology
, was an industry media veteran Meredith Salisbury and the experienced editor of Pharmacogenomics Reporter
The following article, written by Matt Jones, from Genome Web covers the talk well:
In order for personalized medicine to progress as many US researchers want it to, it will require a more focused commitment from better informed federal agencies, smarter collaborations across public and private sectors, bigger studies and bolder science, and intelligent changes in the healthcare system overall, former Director of the National Human Genome Research Institute Francis Collins stated.
Collins described himself as "an unemployed geneticist," who just finished spending months "working night and day" with the White House transition team led by HHS Secretary Tom Daschle. He said he now feels free to discuss how federal research and academic research, business, and larger political forces commingle in the effort to tailor medicine for individuals.
"Pharmacogenomics, which from my perspective has been one of the most promising areas of personalized medicine, has also turned out to be extremely complicated, not that we shouldn't have known that," Collins said.
Collins pointed out as a pharmacogenomics success how studies of an AIDS drug led to a Food and Drug Administration guidance for a genetic test. It was "exciting to see the Abacavir example come forward this past year where hypersensitivity reactions are almost entirely predictable by a genetic test," he said. "It was good to see that that was well demonstrated in a carefully controlled clinical trial… [and that] led to a clear change in the FDA labeling."
Wafarin, however, has been a different story, in Collins' mind. He said the data on the anticoagulant drug, which has serious adverse effects in some patients, is "starting to look a little tired."
Although FDA has cleared tests for sensitivity to the drug, we still don't have the right type of evidence "to enable a clear statement to providers about whether this kind of genetic testing ought to be done prospectively before trying to prescribe this drug with all of its complications.
"Because [warfarin] has become a poster child for the future of pharmacogenomics," Collins said, "it's appropriate to do this kind of rigorous analysis with prospective studies, but I'm not sure that we can afford to do that every time."
If DNA testing keeps coming down in price, Collins suggested, it could turn out that the "very, very, rigorous" approach taken for warfarin "may be something we can't afford and shouldn't necessarily advocate as having to do every time."
He also said that he is "delighted" that direct-to-consumer genetic testing services are being offered, even though the field "has become a favorite whipping boy for some of us." He said it is good "that the public is having the chance to learn about their genomes if they think they want to know … and that companies are doing this in a responsible way. But, of course, there are some things on the web that are not responsible."
In addition, Collins endorsed the call by the Secretary's Advisory Committee on Genomics, Health and Society to create a public database of information that would give consumers "a place to go to seek objective information about the clinical validity and clinical utility of these tests.
"It's disturbing to see that there hasn't been much progress on that because it makes so much sense," he said, adding that without "some objective way to evaluate" these gene tests there will be "some other entities on the scene that are a little less responsible."
Collins is adamant in his call for more studies of gene and environment interactions, and he said he is concerned that not enough investment has gone into that area.
"If we're serious about preventive medicine, and using personalized genomics to inform that, we're not going to change the genome," he said. "It's the environment we're going to want to change."
In order to collect such data, Collins called for a massive study. "Wouldn't it be nice if we invested in an organized US prospective cohort which was a snapshot of the population?"
Collins guessed that such a study would require "a genome project kind of budget," and that it could cost around $300 million or $400 million a year and include at least half a million people and possibly a million.
"But we're probably going to spend that amount anyway on a whole bunch of studies that are cobbled together to look at individual diseases, so why don't we just do it right the first time and have this study which could be a stimulus for many spin-offs?" he asked.
The upshot of such spending would be a study that could become "the centerpiece of our efforts to try to figure out how to take genomic discoveries and implement them into public health."
Collins also noted that for personalized medicine to become a usable reality healthcare providers will need help translating the new science into their offices and hospitals. For average family practitioners, he speculated, personalized medicine could become a "net negative."
Healthcare providers now are "ill-prepared for what's coming" he warned, and said more efforts and more funding needs to be put behind educational efforts.
In federal drug development research, Collins said he sees "a great deal of interest in being a more effective partner with the private sector." He said that government could contribute more to the front end of drug development and to "de-risk" problems which may otherwise seem to industry "too much to take on.
"I think that's something we're going to be talking about in the course of the next couple of years … ways to make this interaction between government, academia, and the private sector more effective in the translational effort," he said.
Looking forward to 2015, Collins said there are some milestones he expects to see achieved, chief among them he said he could nearly guarantee complete genome sequencing for $1,000 or under. He also expects that researchers will identify many more risks for heritable diseases and a growing number of targeted therapeutics.
Collins said he has "great hopes" for the new administration in Washington. He said that his experience on the transition team left him with the impression that "the vision, and the smarts, and the determination are all there" to push medicine and healthcare forward in many ways, including the adoption of electronic medical records.
While the economy is "a bit of a problem," Collins admitted, he hopes research will receive proper investment.
"I think if we all work together on this we have a chance of doing what we've promised all along … we're going to revolutionize medicine."