Tag Archives: Humane genome project

NHGRI Symposium – Viewable Online Now

Image from NHGRI Decade of Human Genome Sequence Symposium intro

Just over a week ago, while Mary & Trey were presenting our live UCSC and ENCODE workshops, I was back home enjoying the live feed of the “A Decade with the Human Genome Sequence: Charting a Course for Genomic Medicine” symposium from NHGRI. I missed a few of the live session due to family obligations, but really enjoyed the rest of it, both for the historic perspectives that it gave as well as for the battle cry going forward that it provided. A lot of “heavy” genomics hitters were included, both in the audience and as speakers.

This morning I noticed that the videos and most slides from the day are now available, & I thought I’d share the link with you. I can see several reasons to watch this series of talks – to help celebrate the human genome project, out of curiosity, for a historic perspective, or even to learn what types of things NHGRI & even NIH are likely to lean their funding might towards. The speakers did touch on some guiding themes for going forward, but from my perspective the symposium really was more about celebrating was has been – how little we knew 10+ years ago, examples of translational successes, and (especially) how far sequencing technologies have come. Eric Lander said something like if you can sequence, you should in your research because sequencing is cheap and getting cheaper each day. What was touched on a lot less in the symposium talks is exactly WHAT to DO with all this cheap sequence data. And I don’t even mean the ‘data deluge, where do we store it’ part of the issue, which is of huge concern. I mean on a concrete level, once I personally get sequence, or my lab gets sequence, how do we learn from that and move our research forward? Sean Eddy gave a great talk that touched on the incredible things that his and his wife’s labs are doing, but I don’t think every researcher that takes Lander’s advice has the where-with-all and know-how of Eddy.

In the panel discussion moderated by Sharon Terry, Stephen Sherry of NCBI discussed his experience with being the ‘family interpreter’ of their 23andMe genome data. I’ve heard similar stories of figuring out “what to do with it” from Trey, as he has blogged about in the past. And these are people “in the know” who have lots of databases and tools available to them. What is the “average”  personal genomics consumer going to do with their genome? There were some pointed audience questions and micro blog comments about data analysis. Someone pointed out that as sequencing costs go down, analysis costs go up. There were no real answers given by the symposium speakers to this question. Yea, ok, it was a celebration & time was short. But this is a HARD question to answer! How are we going to “translate” all our cheap sequence “information” into health knowledge?

If you only plan on pondering on one of these symposium talks, I’d suggest Maynard Olson’s closing remarks. For me it’s like one of those college lectures where, if you didn’t realize who he is or listen to his ideas, you might think you were in for a nap. But upon listening, and most importantly, reflecting you realize that the ideas were so big & rapid fire that you were probably only chewing on a third of it & still having a mouthful. I cannot possibly do justice to his talk without just quoting the whole thing so I’ll just recommend you watch with your thinking cap on. I personally keyed in on his phrase “radical integration”. I am absolutely biased but I’d like to think that what we do here at OpenHelix is helping with that integration. We may not be getting people’s genomic information directly into their medical charts, or helping build the technology to move towards electronic medical records, but we are helping to integrate by bridging the understanding gaps between software developers and end users, between the experts in one field and the resources available in related, but as-yet not integrated fields. We are providing outreach everyday to help integrate researchers and resources across research areas. So are lots of other groups – resource providers who understand the importance of outreach, institutions that believe in the value of resource training, science librarians and bioinformatics groups who work diligently to further the efforts of researchers at their institutions. We often describe OpenHelix as acting as a bridge, and in his talk Francis Collins uses a bridge metaphor for spanning the “valley of death” between Fundamental Knowledge and the Application of fundamental knowledge.

What I want is a realization and appreciation by funding agencies, universities, and conference organizers alike of the importance and impact of resource outreach on our ability to integrate sequence data into daily science and health – you gotta be able to understand it & analyze it to use it! Ok, nuff said for this rant. The symposium videos are cool for a lot of reasons – if you’ve got some down-time I’d suggest you check them out.

Oh yea, and if you do watch or read the full strategic plan, leave your comments & thoughts in one of the many areas that they are providing:
A Decade with the Human Genome Sequence (YouTube playlist of the symposium)
The (NHGRI) Strategic Plan (comments at the bottom of the page)
NIH Feedback page (more for new National Center for Advancing Translational Sciences (NCATS) feedback than NHGRI or genome feedback)