26 May 2012

Finally GETting it: the 2012 GET (Genomes, Environments and Traits) Conference, Boston, 25 April 2012

As I mentioned in one of my very first blog posts, I am participating in the Personal Genome Project led by Dr. George Church of Harvard. (Read that post here to get a quick overview of the project.) For the past couple of years, they have had a one-day conference (Genomes, Environments, Traits, or GET) at Harvard Medical School to discuss progress as well as host presentations on related themes and trends. Participants in the study are invited to attend free of charge, so I stopped by to enjoy some very interesting lectures on a wide range of topics, as well as to get a full update on the progress of the project.

And OK, I admit it: I also wanted to meet Dr. Church.* I have always found the idea of ‘celebrity’ rather horrifying. With the exception of a book-signing, I wouldn’t be caught dead asking someone for an autograph, and I firmly reject the idea that just because someone (e.g. actors) is in the limelight, s/he is somehow worthy of our affection and praise. And I believe that if you admire someone for his or her convictions or policies or work, then you should admire the product (i.e. ideas), not the person (who is as fallible as you). In other words, I don’t really do hero-worship, and I don’t have any ‘rock stars’. But Dr. Church is as close as I will ever come to having a hero. His audacious project to sequence 100,000 genomes has the potential to have a greater impact than any other single scientific undertaking in medical history. I realize this doesn’t make him as fame-worthy as, say, an accomplished person like Kim Kardashian or Paris Hilton, but it’s good enough for me.

For me, the most interesting part of the day was the update on the project itself. The whole team was there, each updating on his or her area of responsibility (bioethics, legal, operations, etc.). They then fielded questions from the group of us there. The question I wanted to ask (but didn’t have to because apparently everyone was thinking it and someone else posed it first) was, isn’t the project terribly skewed towards a certain subset of the population? First there’s education and IQ: since they aren’t aggressively advertising it yet, they are getting mostly people who have a higher educational level; and since they require everyone to pass a test on the basics of genetics, risk and privacy issues at stake, it will also skew towards the more intelligent. Also, looking around the room, I saw a majority male and majority white audience (though admittedly I don’t know for sure how representative that was of the overall participant pool). Add to that the fact that one must be an American citizen to participate and it does seem a little imbalanced. There really wasn’t much of an answer for that. For the educational/IQ and American citizen issues, those are all related to legal/informed consent/privacy requirements, so they can’t really budge there for now. As for ethnicity and sex, presumably at some point they will be making a wider push for more participants and attempt to balance things then.

And that brings me to the next thing I noticed: despite the fact it’s been up and running for a few years now, it is still very early days, so patience is the key word here. There’s so much more to it than simply soliciting, receiving and processing DNA. Remember, nothing like this has ever been attempted before, so there is a very steep learning curve here: how best to collect and process so many samples, and with the best maintenance of the samples; even deciding WHAT to sample, since this is also about environment and about getting as wide a spectrum of data as possible; how to handle the interface with participants; all the legal and privacy issues; how best to process all the data to ensure it’s actually turned into something meaningful. The list goes on and on.

As for the numbers, here’s where it stands right now: there are about 2,000 of us in the project. In the first five years of the project, they sequenced 10 genomes (starting with Church’s, who led by example and released all his data); now they are up to about that many per month. The market cost for the process is down to around USD 4-5k, which is already half as much as last time I checked a year or two ago; and the price will continue to plummet as the process is improved and streamlined (which is an important secondary goal of the project).

Besides the project update, there were many fascinating presentations on other subjects, from a CEO who has the goal of achieving the 100-dollar genome, to an incredible project that is achieving the ultimate biomimickry: creating actual miniature bio-synthetic organs on which to do drug trials to ensure greater accuracy and reliability of results (not to mention saving a lot of rats!). That latter one was amazing and the implications for drug research are profound. Take for example asthma drug research. Progress in this area has been (literally painfully) slow. One of the main reasons? Animals simply don’t mimic the human version of asthma very well, so researchers often go down dead-end paths, wasting a lot of time and research money along the way. But imagine growing a biosynthetic lung and testing drugs on them directly. The researcher, Dr. Geraldine Hamilton, showed some pictures of some of the actual organs they had created. Astounding accomplishment both from a technical point of view and in light of its staggering implications.

So what does the future of genetics hold for us? The possibilities are practically endless. As Dr. Church said, we all have some ‘superpower’ in our genes (large or small, whether we are aware of it or not). This can be anything from harder-than-average bones to HIV-resistance. Now imagine identifying thousands of such ‘superpowers’ through large-scale genomic research. Then imagine leveraging that knowledge of individual genes to create therapies for others who lack that particular ‘superpower’. You don’t need much of an imagination to realize that the implications for the future and well-being of humanity are profound.

The future is a wild place, folks. Hold on.

*For the record, I did get to meet him and speak with him for a few minutes, and was quite proud of myself for not gushing overly much. I think I might even have been relatively coherent.

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