The PGP and me, Part I
I have yet to articulate the appeal of the Personal Genome Project in a way that really captures how I feel. I think my fellow subjects have done a better job of it than I, especially here (subscription only–sorry!), where I think I managed the neat trick of coming across as both flaky and mercenary:
To Misha Angrist, a science editor at the Duke Institute for Genome Sciences and Policy, it was less practical considerations than making his own genome more tangible. Angrist, who has a PhD in genetics, said he pipetted many DNA samples over the years, “and it was still always kind of an abstraction. Maybe I am naïve, but I’d like to think that having a look at my own genome might make it less of an abstraction.”
Angrist said that he plans to write about the project, which also factored into his decision to participate. “I think it’s much more interesting to write about something from the inside, as a participant observer.”
I stand by both of those statements and I don’t fault the reporter at all, but they are only a small part of what I was trying to say. As someone who presumes to call himself a writer, I should have known better the peculiar corollary of Murphy’s Law–the best parts of a 45-minute conversation will rarely make it into print; the dorkiest parts almost always will. So let me clarify: the PGP is, in my biased view, at the vanguard of efforts to understand personal genomics and its impact on health care, insurance, personal privacy, genealogy and all the rest. In my professional life I think about these things every day. But rarely are they any more than a thought experiment, that is, an abstraction (there has been one notable exception I hope to address in a future post).
This is not to say that when my genome goes up on the internet I will suddenly be overwhelmed by a sense of impending doom. Hardly. But the PGP is not without risk to subjects (and to their family members, another topic of a future post). A variety of bad things could happen that would be anything but abstract. When the ten of us signed the PGP consent form, those things (or at least some of them) were outlined in fairly stark terms:
…anyone with sufficient knowledge could take your genome and/or posted medical information and use them to (1) infer paternity or other features of your genealogy, (2) claim statistical evidence that could affect your employment or insurance, (3) claim your relatedness to infamous villains, (4) make synthetic DNA and plant it at a crime scene, (5) reveal the possibility of a disease or unknown propensity for a disease.
Holy Sally Hemings, Batman. Can you imagine five more ready-made plots for a Lifetime Movie? At first glance, they seem remote, perhaps even comical (”Hey, uh, Mom, did you know you’re descended from the bastard son of Blackbeard?”). But remote is not the same as implausible. And so here is another reason I think the PGP is so appealing: truth in advertising. I’ve read a fair number of consent forms; all use the Latin alphabet, but how many are actually written in English? They often portray risks as vanishingly small or couch them in scientific jargon. Be honest, Dr. Principal Investigator: Is Billy Bob Study Subject really gonna parse your 12 single-spaced pages and understand all of the things that might go wrong? As George Church told me in an interview last year, “Most informed consent forms tell you everything you need to know except when to quit.”
George, I should say, is another appealing aspect of the PGP (so far, at least). I will try to introduce you to him through my eyes in the next post.
I work as an Assistant Professor in the Duke University Institute for Genome Sciences & Policy (although this site and its content are my own).
In 2007 I became the fourth subject in Harvard geneticist George Church's Personal Genome Project. As the PGP moves forward, I am chronicling the dawn of personal genomics, that is, people obtaining their genomic information for whatever reason(s) and figuring out what to do with it. I am interested in the relevant technologies and especially the attendant privacy and other ethical/legal/social issues.
This blog may also discuss some of my non-genome interests or, to paraphrase Dwight Yoakam, "Guitars, Cadillacs, hillbilly music, etc etc."
The header image comes from the Liz Lerman Dance Exchange's multimedia performance piece, "Ferocious Beauty: Genome."
August 23rd, 2007 at 10:11 pm
You are very bold to do this; I mean, to participate in the PGP and also to blog about it. But given the public nature and stated goals of this project, it seems really important for participants like yourself to carry on a public dialog. I had a conversation with George about all this after a related talk he gave in late 2005, when I was agonizing over similar issues related to depositing high-res SNP data into public databases like dbSNP (you don’t need a whole genome for most of the consent issues you list above to apply!). This was before NIH decided that GWAS data should go into dbGaP and solicited comments on the proposed policy. You see, I work in a high-throughput genotyping lab, the Center for Inherited Disease Research at Johns Hopkins, where most of our work is done under contract to the NHGRI. Like you, I think about these issues every single day, and it is not at all abstract but it has always bothered me that all the thousands of people whose DNA samples we process will forever be anonymous to me even though we are handling and discussing such fundamental aspects of their lives. Also like you, I made a similar decision in order to gain a more direct and complete understanding of these matters, which was to volunteer for the NIH ClinSeq project, whose objective is to “explore the fundamental medical, molecular and bioinformatic challenges facing individualized gene sequencing in a clinical research setting.” The first thing I did was meet with a genetic counselor who was very thorough about explaining the implications of study participation and what I could and probably couldn’t expect to learn from the sequencing results in terms of disease risk. But the one question she wasn’t prepared for was when I asked “So, how do I get my sequence?” to which the answer was something like, “We really haven’t discussed that.” To which I replied, “Well, you probably should… I may be unusual in that I want it and know what to do with it, but certainly other people will eventually want it too.” Especially since in this case my sequence will be part of my medical record - at least the parts that harbor a potentially significant result, which will then be re-sequenced in a CLIA-approved lab. I’ve already talked to my personal care physician about it and he’s actually quite excited about the prospect of actually being able to practice “personalized genomic medicine” of sorts… after all, it has to start somewhere with somebody. Another surprise to me was that the first real issue that came up wasn’t related to the medical sequencing at all, but was a purely medical issue that turned up in the (very thorough and elaborate) testing they did and will continue to do. This hadn’t really occurred to me as a possibility. A high-res CT scan found a 2mm “nodule” on my left lung, which is probably nothing but has to be followed up in a few months just in case. I’m not particularly worried but if it does turn out to be something I’ll be very glad they found it at 2mm rather than later.
August 24th, 2007 at 3:02 am
Hi Lee–
First of all, I hope you’re healthy and that the nodule is nothing more than an “incidentaloma.” (By the way, if you haven’t read it already, I highly recommend Zak Kohane’s paper on “the incidentalome,” JAMA. 2006 Jul 12;296(2):212-5.)
Second, while it’s nice of you to say, I don’t think my participation in the PGP is particularly bold, to say nothing of this blog. Perhaps when I’ve gotten my sea legs and have had a chance to really push the bounds of good taste, then maybe it will be hailed–or derided–as bold. For now, it may be immodest and narcissistic, but I wouldn’t call it bold. I think, as Esther Dyson has said so eloquently in various outlets, the PGP is about reassuring people that genomic information is not a voodoo doll. If we thought it would rise up and bite us in the ass, we wouldn’t have signed on the dotted line.
Finally, I think ClinSeq is an interesting test case for medical sequencing and I hope to learn more about it–I hope you’ll keep us updated. I think you wanting access to your own sequence may be exceptional for the moment, but it won’t be for very long. It seems to me this is really about disclosure of research results–or are they even research results? In any case, I believe we’re still in the top or perhaps bottom of the first inning as far all of that stuff goes: defining genomic human subjects research beyond conventional IRB definitions, deciding what subjects have a right to expect, re-identification, etc.
August 26th, 2007 at 2:28 am
[…] considerations from an intriguingly personal standpoint are the subject of the description of the Personal Genome Project by GenomeBoy. Sandwalk believes that aside from the safety issue, there doesn’t seem to be […]
August 26th, 2007 at 10:21 pm
[…] The PGP and me, Part I (GenomeBoy): I have yet to articulate the appeal of the Personal Genome Project in a way that really captures how I feel. […]
February 4th, 2008 at 4:30 pm
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