You took a nontraditional path to bioethics, starting with a PhD in religious studies. Then, you flirted with an MFA in creative nonfiction and finally attended law school. How did you land on your subject matter, much of which is focused on research ethics and research regulation?
That was kind of an accident. I was introduced to it in graduate school, and I taught the basics of it. But it wasn’t especially exciting to me until after I went to law school. And with the benefit of legal training I thought, “This is a really bizarre system!” [Institutional review boards] are like mini-regulators. There’s no accountability, there’s no transparency, and there’s [often] no expertise. These [features] are why we delegate policymaking to administrative agencies — because they have these attributes. Institutional review boards (IRBs) basically lack all of these. So I thought, “What is going on here?” The more I’ve worked with IRBs and, since coming to Geisinger, the more I’ve had a leadership role [in research ethics], the more sympathetic I am to the position one is in when one serves in that capacity. And I’ve served on IRBs myself. I view myself as kind of a translator between the research ethics/IRB world and the scientific world. And they both get it wrong sometimes.
In terms of research ethics, which position do you hold that is less likely to be shared by the bioethics establishment?
When data or tissue samples are collected [from patients] for clinical purposes and then the data or leftover tissue are de-identified and used for another research purpose, the privacy risks are not zero, but they’re relatively small. (I’m hardly the only one who takes this view.) Lots of things we do in life and that we don’t have much choice over involve non-zero risks — vaccinations, for example. While they don’t cause autism, there can be bad effects on occasion. And yet there is a broad policy choice that we’re all in this together [and that we should get vaccinated]. And we compensate people if they’re injured. But the benefit for everybody getting vaccinated massively outweighs the small risks. I look at research with non-identifiable data and specimens as being very similar [to vaccination]. So I’m not outraged that all of us have had our data and specimens used without our identities attached to them to further research.
You’ve read a lot of terms-of-service agreements for social media companies like Facebook and direct-to-consumer genetics companies like 23andMe, not to mention informed consent documents for traditional academic research. Most people don’t read them — should they?
For terms-of-service agreements I would say no — it’s an entirely rational decision to save an hour of your life from reading ridiculous, ten-point font, boilerplate stuff. I think a lot of it is impenetrable to the average person, and even if it isn’t, a lot of it is vague enough that [it’s hard to] know what it really means. I don’t think putting the word “research” in a 20,000-word terms-of-service agreement amounts to ethically meaningful consent. The difference between, say, an Apple software agreement and a traditional academic research “invitation” is that in most cases, unless we’re talking about something where it’s a [late-stage] cancer trial and the trial is the treatment, research is totally optional for you — your option is not to do it and to go about your life. In those cases, yes, you should read [the informed consent documents]. But for terms-of-service [for software or social media companies], anything truly unconscionable would not be upheld by a court of law.
You have a family history of Huntington’s disease (HD). You have 37 CAG repeats, an “intermediate” mutation, which can lead to full-blown HD, or to delayed onset with modest symptoms, or to no discernible effect. How has living with this uncertainty informed your work? For example, you are in the Personal Genome Project, which makes participants’ genomes public without trying too hard to de-identify them. Did this give you pause before participating?
Whole-genome sequencing technology doesn’t pick up CAG repeats in HTT, and it did not in me. (Editor’s Note: A recent paper suggests that it is now possible to detect repeats in HTT, the gene associated with Huntington’s disease, and similar repeats that cause other neurodegenerative disorders.) I think having 37 CAGs actually made me less concerned about getting sequenced than the average person. Surely there can be no darker secret in my genome than that! If I can deal with that uncertainty, then, genetically whether my pee smells funny after I eat asparagus is probably trivial by comparison. As far as sharing my risk status [with the public] goes, my concern has been that most people are not especially literate about this kind of stuff. Huntington’s is always identified as the classic autosomal dominant disease: a horrible fatal disease that, if your parent has it, then you have a 50 percent chance of getting it — without any nuance. That’s how it was taught to me as an undergraduate bioethics student.
You believe that talking about it can remove some of those misconceptions and perhaps even some of the stigma.
At this point people talk more about the risks of information getting out than they do about the burdens or costs of keeping quiet. I’m kind of tired of it. I’m just a very open person … for better or worse.