Professor, Research Director
University of Alberta
Senior Health Scholar
Alberta Heritage Foundation
Research Chair in Health Law & Policy
Name: Timothy Caulfield
— Professor, Faculty of Law and School of Public Health, and Research Director, Health Law Institute, University of Alberta, since 1993
— Senior Health Scholar, Alberta Heritage Foundation for Medical Research, since 2007
— Canada Research Chair in Health Law & Policy since 2001
Experience and Education:
— LLM, Dalhousie University, 1993
— LLB, University of Alberta, 1990
— BSc in psychology, University of Alberta, 1987
Tim Caulfield has been research director of the Health Law Institute at the University of Alberta since 1993, and is the principal investigator for a Genome Canada project on the regulation of genomic technologies.
Last November, he and his colleagues convened an interdisciplinary workshop to develop practical guidelines for investigators and research ethics boards involved with whole-genome studies. Last week, they published their guidelines and recommendations in Public Library of Science Biology.
Last week, In Sequence spoke with Caulfield about the ethical challenges of whole-genome sequencing projects involving human subjects.
Why are the ethical questions associated with whole-genome research different than those associated with other human genetics research?
I think, and we touch on this a little bit in the paper, that in many respects, these issues have emerged in other contexts. We have certainly seen the consent one emerge with biobanking. We have seen the return of information emerge, really, since human genetic research has been around, what kind of data do you have to feed back to the patient, or the research participant.
But I think what makes this different and really unique is that whole-genome research magnifies all these concerns and brings them together in the context of one kind of research. Here we have a research methodology that really intensifies all of these challenging ethical issues that many of us have struggled with for over a decade.
Do you think there is a new quality to whole-genome sequencing as opposed to whole-genome scans that only give limited information across the whole genome, such as SNP scans?
That’s an excellent question; in fact, one of our co-authors brought that up, on the language that we actually used in the statement, whether we are referring to whole-genome sequencing or whole-genome research.
I think the difference is, if you are doing whole-genome research, just the fact that you produce so much information makes it challenging.
When and where did the consensus workshop take place, who convened it, and who participated in it?
It was really an idea of Amy McGuire [at the center for Medical Ethics and Health Policy at Baylor College of Medicine], myself, and Mildred Cho [at the Stanford Center for Biomedical Ethics at Stanford University], working with all of our collaborators around the world. [The workshop] happened in Toronto in November. Almost all the people that we brought together have been working on this issue in other contexts. Scholars around the world, like Jane Kaye at [the Ethox Center at the University of] Oxford, who has a whole team looking at consent issues in genetic research, Margaret Otlowski [at the Faculty of Law at the University of Tasmania] has been looking at biobank issues, Bartha Knoppers [at the Faculty of Law at the University of Montreal] has been looking at public health genetic research. It was really a wonderful team of scholars that have been considering these issues in other contexts. What a wonderful opportunity to bring them together.
The other thing we wanted to do is ensure it is scientifically informed, and methodologically informed, so we tried to bring also in lead scientists and people who have been dealing with this kind of methodology on the ground, where you are actually facing it. We wanted to ensure that the statement was … relevant to what’s happening right now in laboratories around the world.
In this workshop, you focused on four topics: consent, withdrawal from research, return of research results, and public data release. Why did you choose those four areas?
[That question] came up both before the event and after the event. We felt that those four were issues that people are struggling with right now. We try and make the point in the paper that clearly this is not a comprehensive analysis of all the ethical issues that are associated with whole-genome research. But we felt that these were ones that research ethics boards were struggling with right now, and that we could, at a minimum, provide guidance.
But we also wanted to flag that there are all these other issues that people should start considering also. And some of the other issues that are like this are issues that have emerged in other contexts, for example patenting and commercialization, and now we have to consider how they are going to play out with whole-genome research.
What other areas are important?
I will talk to Amy [McGuire, who is currently visiting,] about that today, whether we should start thinking about the next step; things like governance. We touch on governance [in the paper], but a lot of people thought this might be an opportunity to talk about governance of these kinds of big research projects more generally, because it does raise some challenges, and it might be an opportunity to critique research ethics more broadly.
But stuff that touches more on whole-genome research, specifically, are things like the commercialization and patenting. You think with whole-genome research, it has the potential to implicate thousands of patents. How is that going to play out in this area?
Also, the engagement of family members we kind of just touch on; there is further scrutiny [of that], and just a whole bunch of other issues that we hope that we can start addressing.
Are you planning to issue guidelines for these as well?
We will see. We are planning on doing some of that work. In fact, what we are already planning right now for September of 2009 is an international symposium in Alberta where we bring together the world leaders in this area, scientific, legal, ethical, and business leaders, to talk about personal genomics and its implications for society. We are calling it ‘The Age of Personal Genomics.’
In what areas, do you think, do the interests of researchers and research participants potentially clash, and how are you planning to study these areas further?
I think the one where there may be the most [potential for] clash is the return of research results. I think patients really expect and want any information that may be relevant to their health, or that they may just be interested in. And researchers feel that that is an overly burdensome obligation, and may create interpretation problems, and counseling problems, and to do it properly is a real challenge. I think that area, perhaps, is the most challenging.
What about open data access?
I think that’s also a challenge, and one that played out very interestingly at the consensus meeting. We kind of went in with the assumption that it was going to be complete open access, because that’s the emerging norm, I think, in science. You see the pressure from the NIH that way, and certainly in Canada, also, there is this assumption that we want to push toward an open access model. Of course open access in the context of whole-genome research raises some fascinating issues.
But what evolved at the event, and after, when we were writing up the results and when people were passing edits and suggestions back and forth, was that people moved from that presumption of open access to ‘maybe there should be a presumption of as much access as is necessary for the purpose of the research’. In other words, balancing the privacy interests of the research participants against this desire for open access.
In policy, you always want recommendations to be as directive as you can reasonably be, but I don’t think we can go much beyond saying that the access policy needs to be balanced against the interest of the patient, because it has to be examined on a case-by-case basis, and the justifications for open access have to be scrutinized, and a consent process that would be fit with the open access process has to be explored.
We are hoping that at a minimum, we are flagging this for research ethics boards — they are called Institutional Review Boards in the US — to start looking at these things and considering making that balance.
Some feel there are risks of participating in a whole-genome research study. In your paper, you say that ‘most of the risks remain speculative,’ that they ’may be limited’ and that ’controversial events are rare.’ What do you consider the most significant, and the most likely, risks?
It’s funny, because right before you phoned, Amy [McGuire] and I were talking about what’s the real empirical evidence of the risks associated with a lot of this stuff, and it’s limited.
I am a big believer in evidence-based policy, and I think we need to really look at what the actual risks are, and the harms that might flow from this. But you can’t forget, as we say in the article, all it takes is one controversial event to happen, and you really do hurt the public trust, and people become very skeptical very quickly.
All you have to look at is the Jesse Gelsinger case [in which the 18-year old in 1999 became the first person publicly identified as having died in a clinical trial for gene therapy], and there are lots of examples in the research context. So even though one controversial anecdote can have a profound impact on the entire research environment, that said, I do think we need to start exploring what the real risks are.
But people definitely want to control personal information about themselves. I think there is no doubt about that. And I think that we have to strive to somehow allow this research to go forward, but still let people control their health and personal information in a meaningful way, as much as possible. Fortunately, technology might help there. We might be able to develop ways to reconsent quickly and efficiently, to allow meaningful withdrawal if there is some breach of trust or some kind of issue emerges.
What do you think the guidelines will achieve?
Whenever you come up with guidelines, you hope they are going to be helpful. So at a minimum, I hope that this allows IRBs, or research ethics boards in Canada and around the world, to consider these issues and at least flag the areas that a group of individuals thought were key areas. And hopefully, they will go beyond that and guide research ethics in this area, and hopefully, stimulate further work in the area.