The Personal Genome Project

I recently read Mark Stevenson's "An Optimist's Tour of the Future" and among the many new ideas and innovations to which I was introduced, was George Church's Personal Genome Project. I am going to cop out here and just quote directly from the project homepage:

"In an unprecedented achievement, the Human Genome Project provided the first drafts of nearly complete human genome sequences in 2001 after more than a decade of effort by scientists worldwide. This information is now being used to advance medicine, human biology, and knowledge of human origins.

We foresee a day when many individuals will want to get their own genome sequenced so that they may use this information to understand such things as their individual risk profiles for disease, their physical and biological characteristics, and their personal ancestries. To get to this point will require a critical mass of interested users, tools for obtaining and interpreting genome information, and supportive policy, research, and service communities. To catalyze these developments, we launched the Personal Genome Project (PGP)."

In other words, let's multiply that historic human genome mapping project by a factor of 100,000, and along the way 1) help drive down the cost of genome mapping; 2) figure out better and faster ways to do it; 3) share massive amounts of data that could one day save millions of lives; 4) see how all this affects society, in ways far beyond just medicine (e.g. legal ramifications, social policy, privacy, etc.); 5) advance research in everything from genetics to medicine to genealogy to forensics to...well, you name it; 6) potentially allow designer medical treatments that could result in miraculous cures using drugs that would be lethal to someone else. So, maybe call the family and let them know you won't be home for dinner til around 2072-ish, Dr. Church.

I applied to be one of the hundred thousand guinea pigs they will be needing to make this insanely ambitious project work. Last week, I was accepted as a volunteer subject and will hopefully soon be providing the DNA sample and requested information. I would encourage everyone to consider volunteering. I say 'encourage everyone to consider volunteering' and not 'encourage everyone to volunteer' for very good reasons. This undertaking is not without risks and is by no means something to be undertaken lightly. I do not mean it is risky to your health or physical safety (it's just a DNA sample!), but it has the potential to impact you in just about every other way. First of all, you are agreeing to have your genome sequenced...and then shared with the entire world. So privacy is out the window. Of course, your name isn't attached to the information, but who can guarantee that information will never come out? And no one can be sure how such information would be used. Maybe your insurance company finds out, links your results to you, sees you have a much higher risk of cancer, then dumps you. Imagine someone artificially creating DNA 'evidence' from your genome and leaving it at a crime scene.* Let your imagination run wild and you still won't think of all the potential for harm. This is a cutting edge project, and sometimes cutting edges lead to injury.

But now stop and think of the practically limitless good this project can do for so many different aspects of our daily lives. Even if the study yielded zero short-term medical breakthroughs, the very exercise of processing 100,000 genome sequences will help improve the process and drive down costs. It will teach us (and our lawmakers) some lessons on things like privacy, ethical treatment of people with diverse genetic backgrounds, even civil rights.** And it could potentially open the door to novel treatments using existing drugs that are deemed too dangerous because of their fatal side-effects in some patients. (If you can figure out what genetic markers are associated with such adverse reactions, you could provide such a life-saving drug to one person, but withhold it from someone to whom it would be fatal.)

But perhaps the most compelling reason to help out is the fact that Dr. Church is doing something no private company would do: he's going to release all of the data to the whole world, no strings attached. So instead of some small group of people trying to sift through all that data looking for a handful of profitable potentials, you have the whole scientific world delving into it, everyone from university researchers to pharmaceutical companies looking for the next big drug pay-off to medical researchers at hospitals to biologists to, well, everyone.

So, please consider participating if you are a U.S. citizen*** and can accept the risks. Just go to the project sign-up page to get started. You will need to pass a short 'exam' that covers some very basic, junior high school-level genetics + areas specific to the project (including risks). It's easy and they even give you a link to a special site where they basically spell out all the answers in a study guide! And whether or not you decide to participate, please consider donating to the cause. It is a not-for-profit, 503(c), so you can even deduct the donation from your taxes!

Meanwhile, yours truly will be publishing the occasional blog post on the experiences of a willing guinea pig in one of humankind's most ambitious endeavors. So stay tuned!


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Footnotes:

*Nuts, right? Believe it or not, the project sponsors specifically cite this as a potential risk.

**Yes, civil rights. Yesterday's oppression was based on ethnicity or sex. Today's on sexual orientation. Tomorrow's...on genetic propensity for certain traits?

***Yeah, I don't really get that either. But for some reason, the scope is limited to Americans for now.