In 2008 I enrolled in a study run by the National Institute of Environmental Health Sciences (NIEHS). The study team came to the human genetics research center at Duke University where I was working at the time, so it was easy to sign up (and good strategizing on their part to recruit other researchers!). The purpose of the study was broad: to understand how genetic variation, along with things in our environment such as pollution, diet, etc., influences common, complex disease (think diabetes, cancers, the whole gamut). I gave my consent to participate, answered a few very basic questions, and had my blood drawn. My blood sample went into a biobank, which is a repository for ongoing research. So I knew at the time that my biological material (DNA, blood, etc.) may be studied for many years to come.
I recall that a short time after enrolling the NIEHS team gave me some blood chemistry results — cholesterol and glucose, if I recall — as a sort of “thank you” for participating. But, as with most research, the motivation to participate has to stem from general altruism: you don’t expect to benefit as an individual, but to help society overall. I pretty much forgot about the whole thing.
A few weeks ago, the study emailed me to ask for my consent to a new part of the study. They want to sequence the entire genome of participants in the biobank. (In some cases they might just sequence the ~1% of the genome that codes for proteins, but that’s still ~30 million DNA bases.) At first I read the email, thought “hmmm,” and marked as unread. Five reminder emails later, and I’m still not sure how to answer.
If I consent, my genome sequence data will be deposited into a federally maintained research database where other researchers can request permission to access it (stripped of most identifying information except, well, my whole genome). I understand this process very well — it’s all part of the research machinery around which my job as a research scientist revolves. Whole genome sequencing on a large scale is still a relatively new part of this machinery, but it’s already something I have experience with on the researcher side of things. So let’s be frank: people saying “yes” to the types of questions I’m being asked in this re-consent process is my bread and butter. Why am I not leaping to the chance?
A few things. First, my entire genome feels very personal (not to be essentialist, but it is a large part of my personhood). The earlier phases of the project were likely only looking at relatively small subsets of my genome. It feels like the difference between Google Earth collecting some aerial shots of your house versus a team of people coming inside and searching through all your cabinets and drawers. Second, my sequence would be potentially available to a large number of researchers who would put it to a variety of uses. That’s not necessarily bad, but the broadness of possibilities is a little unsettling. These repositories are controlled by committees that review access requests, so it’s not a free-for-all by any means. And I know that researchers (myself included!) are trying to do good. It’s just that it can be difficult to control all uses of the data, especially under a very broad consent such as “general research use” (a common way data is collected and, though I can’t recall exactly, likely what I signed up for in 2008).
Third, and this is the real kicker, I probably would’ve said “yes” right away if I was going to get my own sequence data back. On principle, if a bunch of other people can see and use my sequence data, why can’t I? Now there’s no rare and/or undiagnosed condition that I or my family members suffer from, which is one scenario in which my sequence data might be immediately useful. I still want it. Some scientists agree that research participants should have access to their sequence data as an act of reciprocity. And in my own master’s thesis research, I saw non-scientists saying that if their genome were being sequenced they would want the data back. One participant compared her genome to architect plans for her house: even if she wasn’t planning to do anything with those plans, she would just want them on principle. Because it was about her, and it was hers.
The implications of my current dilemma are both personal and societal. Personally, I feel hypocritical. The person I may not fully trust with my own whole genome sequence data is someone like me: a researcher at a university trying to answer important questions about human health and disease. On a broader level, I see my own inner conflict as representative of an emerging conflict for traditional ways of doing research. Historically participants donate data or samples and don’t expect data or information back (or are at least told that they shouldn’t expect it). I’m not sure people are going to settle for that anymore. Consumer genomics and self-tracking and mobile health research are changing peoples’ expectations — they may stop settling for one-way research. The “Gimme me my damn data” movement is surging.
Another thing I can’t let go of is that in this case, NIEHS actually could contact me and ask specifically about sequencing. In many other studies (and believe me because I see this all the time in my job), it’s not feasible to contact participants and ask about new uses of their data. Not feasible perhaps because the researchers don’t have adequate contact information or perhaps there are just so many people that it would take years and extra research staff that there just isn’t funding to support. In these situations, the decisions are usually left up to ethics review boards at the researchers’ institutions: the boards have to look at the original consent and decide whether it could cover new uses of the data. But this projection is not straightforward, particularly when the technologies in question (i.e., whole genome sequencing) didn’t even exist when the participant was consented.
I’m just lucky that NIEHS has a current, working email for me. Just think if I’d enrolled under an old email, they couldn’t even reach me to ask, and I suspect that my original consent was broad enough to move forward with whole genome sequencing.
So what am I going to do? I’m going to call them up and talk about it. What was my original consent, exactly? What are the foreseen uses once my data go into the federal repository? I think they’ll either be thrilled or super annoyed to talk to someone like me. But it’s a conversation that needs to be had before I opt in to this next “sequence” of events.