Human Genome Project perspectives in 2013: webinar series

In recognition of another decade-based anniversary (and they actually joke in the first session about how it’s always possible to find a 10-year something to celebrate on this topic), the NHGRI is hosting a series of talks and a day-long event to celebrate where we came from, and where we are going, with genome data. Of course, the publication in 1953 of the Watson-Crick paper is the first piece noted. This made me go look at that paper again (wow is it short, and only 1 figure with 18 basepairs…). And then the “completion” in 2003 of the human genome sequence and another series of papers assessing the knowledge gained over the scope of the project.

The first recording of the talks associated with this event has just been posted. Eric Green provides the introduction to the anniversary series, setting the frame of the 60th anniversary of the Watson and Crick publication, and the 10 years since the HGP completion. In addition to the stuff at NHGRI, be sure to watch for the opening of the big special feature at the Smithsonian later this year called “Genome: Unlocking Life’s Code” (anticipated for early summer), which will then travel to cities around the US for the next several years.

The first session of this new series features talks by Robert Waterston and John Sulston. Waterston has about the first hour and answers some questions, then Sulston picks up at around 1:10 or so. One interesting feature of the talk–only one of the speakers was at NIH. Sulston couldn’t physically get there for family reasons and was actually at Sanger, but he notes that if this technology works it will certainly be saving some of the environmental burden of plane travel and should be encouraged.

Here’s the video, but it’s available in larger form at YouTube.

I’ll just highlight a few features of each talk. Bob Waterston took the part of looking at the history of the genome project, and some of its foundational pieces. He gives a nice overview of how early sequencing projects were done using C. elegans as an example. The Bermuda Principles in 1996 that were key to getting data out into the hands of scientists and the public as quickly as possible are discussed–and he even has a photo of the overhead sheet that had the really first draft of the concepts that evolved into the policies we ended up having on data sharing (policies linked below; whiteboard shot was ~45min in). He notes that these principles were an important piece of the framework for the multi-national teams involved in doing the work, but also that he thinks they were helpful to the public perception of the project.

John Sulston takes a look at the HGP beyond getting the sequence itself. He speaks to how that data was needed to drive other types of work, including HapMap, learning about CNVs, and 1000 Genomes, etc. And how we can head to advances in diagnosis and treatment for some medical situations today, and we will be getting to the benefits of pharmacogenetics eventually. But there are some hazards along the way. He speaks to two issues specifically: genetic equity, and intellectual property. He references the recent re-identification of samples from the 1000 Genomes data with genealogical databases, and raises concerns about data leaking out, and noting that we really can’t expect to stop it.

On the idea of genetic equity and issues of privacy, he says that it is his opinion that (around 1:23 of the video):

“Society needs a principle of genetic equity in some way or another. Genetic information should not be used–must not be used–to limit the equality between human beings….There are practical measures you can do. This equity is not just a philosophical term. It actually means statutory provisions so that people cannot be disadvantaged.”

Later he goes on to speak to the IP issues that are complicating research. He uses the Myriad example, but also has a more broad overview of the IP landscape and how it affects research directions. He notes that a problem of research funding is that the profitable topics can get done over things that actually have a larger disease burden in the world. But there are other issues affecting downstream usefulness of data that are not just the science: lobbying, ghost publications, physician incentives, etc–these can impact the beneficial outcome that could be possible. Another features I didn’t expect to see him raise was the problem of the adversarial environment we have, and that drugs can get thrown out for adverse events that might only affect a small set of patients–but we could find out who those patients are and rescue some treatments if we have access to all the information on who it will or will not benefit.  He then touches on some ways to restructure the IP and data sharing into more workable scenarios.

So the past and the future are covered in this first paired lecture, and keep an eye out for the upcoming ones as well. Context and vision are both really handy to have in interesting times.

Quick links:

Anniversary items page:

Seminar series specifically:

First seminar:

Smithsonian exhibit plans:


WATSON, J., & CRICK, F. (1953). Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid Nature, 171 (4356), 737-738 DOI: 10.1038/171737a0

Lander, E., Linton, L., Birren, B., Nusbaum, C., Zody, M., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R., Wilson, R., Hillier, L., McPherson, J., Marra, M., Mardis, E., Fulton, L., Chinwalla, A., Pepin, K., Gish, W., Chissoe, S., Wendl, M., Delehaunty, K., Miner, T., Delehaunty, A., Kramer, J., Cook, L., Fulton, R., Johnson, D., Minx, P., Clifton, S., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E., Frazier, M., Gibbs, R., Muzny, D., Scherer, S., Bouck, J., Sodergren, E., Worley, K., Rives, C., Gorrell, J., Metzker, M., Naylor, S., Kucherlapati, R., Nelson, D., Weinstock, G., Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Smith, D., Doucette-Stamm, L., Rubenfield, M., Weinstock, K., Lee, H., Dubois, J., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., Yang, H., Yu, J., Wang, J., Huang, G., Gu, J., Hood, L., Rowen, L., Madan, A., Qin, S., Davis, R., Federspiel, N., Abola, A., Proctor, M., Myers, R., Schmutz, J., Dickson, M., Grimwood, J., Cox, D., Olson, M., Kaul, R., Raymond, C., Shimizu, N., Kawasaki, K., Minoshima, S., Evans, G., Athanasiou, M., Schultz, R., Roe, B., Chen, F., Pan, H., Ramser, J., Lehrach, H., Reinhardt, R., McCombie, W., de la Bastide, M., Dedhia, N., Blöcker, H., Hornischer, K., Nordsiek, G., Agarwala, R., Aravind, L., Bailey, J., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D., Burge, C., Cerutti, L., Chen, H., Church, D., Clamp, M., Copley, R., Doerks, T., Eddy, S., Eichler, E., Furey, T., Galagan, J., Gilbert, J., Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W., Johnson, L., Jones, T., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W., Kitts, P., Koonin, E., Korf, I., Kulp, D., Lancet, D., Lowe, T., McLysaght, A., Mikkelsen, T., Moran, J., Mulder, N., Pollara, V., Ponting, C., Schuler, G., Schultz, J., Slater, G., Smit, A., Stupka, E., Szustakowki, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y., Wolfe, K., Yang, S., Yeh, R., Collins, F., Guyer, M., Peterson, J., Felsenfeld, A., Wetterstrand, K., Patrinos, A., & Morgan, M. (2001). Initial sequencing and analysis of the human genome Nature, 409 (6822), 860-921 DOI: 10.1038/35057062

Marshall, E. (2001). Bermuda Rules: Community Spirit, With Teeth Science, 291 (5507), 1192-1192 DOI: 10.1126/science.291.5507.1192

Collins, F., Morgan, M., & Patrionos, A. (2003). The Human Genome Project: Lessons from Large-Scale Biology Science, 300 (5617), 286-290 DOI: 10.1126/science.1084564

Bermuda Meeting Sequence policies (1): and an update in 2000: