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By guest author Misha Angrist.
Genetic Future will be back to more regular posting next week, when I get back from holiday. In the meantime I asked the one and only Misha Angrist - Assistant Professor, blogger, tweeter, fellow genomic exhibitionist, and author of the excellent new book Here is a Human Being - if he'd be willing to contribute a guest post; and wow, has he delivered. Take it away, Misha.
Before I launch into my invited rant, I want to say thanks to Daniel for allowing me, the disheveled and poorly dressed guest from over yonder, to visit Genetic Future, the Gibson Les Paul of genetics blogs, to say nothing of the Wired Science network, which is utterly chock full of bloggy awesomeness. *[Oh, stop. -DM]*Readers of Genetic Future, Genomics Law Report and Genomes Unzipped are likely well acquainted with questions of returning genetic and genomic results to research participants. Recently, those questions have become more acute as the cost of sequencing continues to nosedive. Whole genomes and whole exomes of potentially identifiable people are suddenly everywhere. Thus, even though you might only be studying the genetic basis of Crohn’s disease or epilepsy, you might find that you have every participant’s and every control’s complete cellular hard drive, i.e., his or her full set of protein coding sequences and all the variation therein, at your disposal. What’s a poor PI to do?
In a new article in Trends in Genetics, Annelien L. Bredenoord and colleagues from University Medical Center in Utrecht, the Netherlands, provide a useful overview of the various points of view about whether genetic data should be returned to research participants, and if so, which data, under what circumstances and by whom. The authors note, as I do in my book, that there is no consensus on the issue. They argue forcefully for a middle ground, citing the “rule of rescue” (i.e., if you see something life-threatening and actionable in a genome, then you have a moral duty to say something) as a reason to disclose, but view full disclosure of whole-genome data with contempt:
Color me nonsensical.
Bredenoord et al make the point that full disclosure (like total nondisclosure) is rarely defended. I am stupid enough to try.
First, a point of clarification: I advocate full disclosure only to those research participants who actually want to see or have access to their data. I am not in favor of strapping people down, prying their eyes open, and shoving Illumina reads in their faces if they say ‘no” for any reason—or no reason—whatsoever. It should be purely opt-in.
Now let’s go through the objections to full disclosure as outlined by Bredenoord et al and my responses:
In other words: “If I share your data with you, you will think I’m treating you when really I’m just trying to get my next R01.”
This is arguably the most paternalistic and hypocritical objection to return of genetic results. As a new research participant, chances are I have just been asked to read and sign a 23-page consent form that goes through all of the risks in great detail, discounts any of the benefits, and yet you, Doc, are still worried that if you share MY data with me that I am going to conflate research with clinical care and bad things will happen? Really?? Haven’t you made it clear from the get-go that this is research? Hmmm…wait a second…this consent form says that you are going to be my study DOCTOR, not my study SCIENTIST, and that if I have any MEDICAL concerns or questions I should contact you. Gosh, haven’t you already conflated research and medicine?
- *In other words: “If you understand the deal up front—i.e., that I’m not sharing anything with you—then I am not violating your autonomy.”
Fair enough—you got me on this one, Doc. You are absolutely not violating my autonomy. Gold star for you. But hey, you know what? Doctor X down the road is also studying the genetics of my condition and has agreed to share all of my data with me. See, she looks at me not merely as a “subject” or a high-functioning lab rat, but as a partner. She sends out a newsletter, responds to my emails, and makes someone available to answer my questions—things that cost almost nothing but that keep me in the loop and invested in the research enterprise. She lets me know when she discovers something and how this might affect someone with my symptoms. “I wouldn’t be here without people like you,” she says.
- *In other words: “Before I could share anything with you, I would have to go out and hire a genetic counselor and turn my lab into a CLIA lab. I don’t have the time, money or skills to do this. My obligation is to society, not to you per se.”
Maybe, but you know, what I’m proposing is certainly not unprecedented. The lab in which I did my graduate work and postdoc eventually hired a counselor and got CLIA certified—this was in the, ahem, 1990s. You’d have to ask the PI why he chose to go through it, but I suspect he did it because it was the right thing to do. He was finding meaningful results and felt an obligation to return them to the families who gave us their time, blood and tissue. And what about CLIA? Aren’t there 190,000 CLIA-certified labs? Is it really such an insurmountable hurdle? And if it is, couldn’t you at least give me a heads up in the event that I want to get tested by a CLIA lab on my own dime? But anyway, that’s not even what I’m asking you for. I just want the raw data, as “nonsensical” as that may sound. There is a growing array of public and commercial resources for genome interpretation. I’d like to take a shot at my own genome…or ask my nephew to do it…or hire someone.
- *In other words: “You may be smart, but you’re not gonna understand this and I can’t know ahead of time how I might educate you. Most whole-genome data are worthless/meaningless so why should I bother? Their meaning will change next week—will I have to do this all over again? Finally, I’m a scientist, not a communicator. You’re asking me to do something I’m not trained to do.”
By your own accord, isn’t communicating your findings to the public—that is to say, the public who PAID for your research—part of the deal (pdf)? Are you saying you’re willing to go on Science Friday but you won’t share what you’ve learned with the guy who gave you blood, spit, urine, skin, sperm, hair, tumor and muscle? Anyway, like I said, I understand how tentative and foggy everything is—and if it’ll make you happy I’d be willing to sign yet another form to that effect.
- *In other words: “What I tell you about your genome could mess with your head and/or mess with your family’s head. It could upset you or them. It might also jeopardize your ability to get insurance. It could contradict your own oral family or tribal history. And besides: what will the neighbors say?”
If you told me I had an inoperable tumor, don’t you think that would mess with my head? In the old days, doctors wouldn’t tell their patients such things (I know, I know—you’re not my doctor). But anyway, who the hell are you to decide what might or might not mess with my head? How do you know I won’t be more upset if you DON’T tell me? And why would it jeopardize my ability to get insurance? Because I’m only asking you to disclose it to ME, not to append it to my medical record or my Facebook page. Your consent form says you will take all kinds of steps to keep my information confidential, but that it might be examined by the FDA, the NIH, etc. So…that means it would be okay for some bureaucrat to peruse it but not me?
My hope is that in five or ten or twenty years we will look back on this debate and laugh at our own prudishness. In that dream the Personal Genome Project will be recognized as visionary with respect to disclosure of genomic data (among other things). Most everyone will already have his or her genome and access to resources to help interpret it. And the universal view of genome scientists toward research participants will be one of inclusion, openness and true partnership.
You may say I’m nonsensical…but I’m not the only one.
Bredenoord AL, Kroes HY, Cuppen E, Parker M, & van Delden JJ (2011). Disclosure of individual genetic data to research participants: the debate reconsidered. Trends in Genetics, 27 (2), 41-7 PMID: 21190750
