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Q&A: Analysis of Cancer Genome Sequencing Consent Forms Finds Wide Variation

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CAllen.jpgName: Clarissa Allen
Position: APOGEE-Net/CanGeneTest Research and Knowledge Network on Genetic Health Services and Policy One Year Training Fellow (currently intern, World Health Organization, Ethics and Health Unit, Geneva)
Experience and Education:
Intern, McGill University, Center for Genomics and Policy (working with Bartha Knoppers)
Intern, McGill University, Program in Cancer Genetics (working with William Foulkes)
MA in philosophy (specialization in biomedical ethics), McGill University
BA in interdisciplinary studies, University of Guelph

As part of a research project with William Foulkes in the cancer genetics program at McGill University, Clarissa Allen took a close look at consent forms used in cancer genome sequencing.

In total, she examined informed consent documents, dated between 2004 and 2011, from 30 cancer genome sequencing studies conducted in the US, Canada, the UK, Australia, the Netherlands, and Belgium. Specifically, she assessed the stated purpose of sample collection, the scope of the requested consent, data-sharing protocols, privacy protection measures, described risks of participation, subject re-contacting, and withdrawal protocols.

Last month, Allen and Foulkes published an analysis of the results in BMC Medical Ethics, and she will present them at the International Congress of Human Genetics in Montreal in October.

While the study found similarity across consent forms in terms of how they handle participant privacy and the use of samples for future research, they were "varied in terms of how they discussed re-contacting participants, returning results, and facilitating participant withdrawal from research," according to the paper.

Clinical Sequencing News recently spoke with Allen about the project. Below is an edited version of the conversation.


Can you provide some background on this study?

We decided to look at research ethics practices in whole-genome sequencing because it is an up-and-coming technology; people talk about it as the future of personalized medicine, as an exciting new technology that has a lot of promise. We just thought it would be interesting and useful to look at the way in which these studies are being done, in terms of how they handle obtaining informed consent and sharing data … and just get a sense of how these practices were similar or different, both across jurisdictions and over time.

What are the most interesting results from your study? Did you observe any trends?

Actually, it is an interesting result that we did not really observe any particular trends. We have roughly a 10-year time period, and you would assume that there would be perhaps some convergence towards similar practices over time, some changes certainly. But the only real trend that we noticed was more of an emphasis in the North American documents on the danger of things like genetic discrimination, and the potential … that it may become public knowledge that people are participating in these studies, and maybe even some of the results becoming public, and subsequently, the socio-economic dangers associated with those issues. So there is more of a trend in North American documents towards warning potential participants of danger. But other than that, there was a lot of variation, both over time and jurisdiction, and not any real, solid trend that we noticed.

Were there any other country-specific differences?

Not particularly. The most visible divide was North American vs. non-North American. But again, that was only in the area of privacy concerns, and not any other particular practices.

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I was intrigued that the consent forms you collected went eight years back. Were researchers already thinking about genome sequencing at that time?

It was not necessarily at that time that the form was being used for whole-genome sequencing, but it was a similar type of biobanking. The same issues were coming up, so the [same] forms were being used.

In how far do consent forms for cancer genome sequencing studies differ from standard consent forms for medical research?

A lot of the informed consent documents that we were looking at which were [seeking] consent to do whole-genome sequencing were actually obtaining broader consent, or less specific consent. They were all generally asking to make use of samples, mostly leftover from surgeries. So there was not any actual invasive procedure that was going to be happening, but they were asking, if there was some tissue sample left over, some collected blood left over, to do analysis on this tissue. I'm not sure if it's because [they were] just trying to keep it as more colloquial language, or what exactly the motivation was, but not very many of the forms at all specifically mentioned whole-genome sequencing. These were, in a lot of cases, informed consent documents for medical research beyond just whole-genome sequencing. So they were identical with the informed consent documents for other kinds of medical research.

Among those groups who return results to individual participants, were there any differences in how do they deal with incidental findings?

Incidental results were not mentioned in any of the forms that we collected. I think that's a really interesting point because it is increasingly being recognized as an important issue to raise, and a controversial issue; there is a lot of discussion on it in the literature right now. So that was an interesting finding as well, that none of the informed consent documents we collected mentioned or referred to how the finding of incidental results would be managed.

In how far do the issues around cancer genome sequencing studies differ from other whole-genome sequencing studies, for example for inherited diseases?

I think that they are quite similar issues. We looked at cancer in particular, especially because whole-genome sequencing is an ideal technology for studying cancer because of the nature of the disease. But I think that a lot of our results are translatable to other whole-genome sequencing studies.

Is your impression that the groups you studied are doing a good job about informed consent? Are they generally too cautious, or are they overlooking issues?

At this early stage, we were not looking to be critical and we did not find any glaring research ethics issues. Everyone is certainly doing their best to handle all of these really complex issues. One difficult thing to deal with is capturing the complexity of all of these issues in an informed consent document where you can't have it be too long; it has to be at a level of language that potential patients can understand, and things like that. So I think it's a real challenge to construct a readable, useful, meaningful informed consent document, especially when it's for one of these new and quite complex technologies. And I definitely think that everyone who we looked at, even though they did it in different ways, is trying really hard to get it right, and I think that they are doing a good job with that.

Did any recommendations emerge from your study for how informed consent should be handled in future studies? Also, are any standards emerging?

One thing that I would for sure say is, and it is controversial, this trend towards returning research results. I think in particular in these kinds of whole-genome sequencing studies for cancer, what's happening is that the patient is not really having any kind of interaction with the research study, besides from that initial informed consent process.

What the researcher is doing is just obtaining the samples and doing their research, and the patients don't really benefit directly in any kind of way from that. In your typical clinical trial, participation would give you some sort of benefit, that you would receive some increased medical care, or the potential to try a new therapeutic, or some sort of benefit that is a balance to the risk that the patient or the subject undergoes. And the interesting thing about this kind of research is that they are undergoing some significant risk of [losing] privacy, and we are not quite sure how genetic information is going to be used. So there is an element of risk to it, and there is not really an element of benefit to balance that risk.

So I think an argument that could be made is that returning individual results would be a way of providing some kind of benefit to the patients. And especially now there is also the stronger ethical argument in the case where the findings … represent a type of care that should be provided. It's a really difficult issue because there are also some questions about how to follow on care, how to explain results to participants, and the burden that this is going to pose on the research endeavor, but it's definitely an argument that can be made, that researchers should at least give some serious consideration to trying to provide individual results to their participants.

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