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What Do Americans Think About Population Studies? NHGRI Taps GPPC to Find Out


Name: Joan Scott
Position: Deputy director of the Genetics and Public Policy Center, 2002 – the present
Background: Director of biorepository at Gene Logic, 1998 – 2002
Education: Certified Genetic Counselor;
MS, genetic counseling, Sarah Lawrence College, 1978

To set the stage for large population studies that examine how genes and the environment affect human health, the US National Human Genome Research Institute will give the Genetics and Public Policy Center $2 million over two years to conduct a pilot “public discussion” about the best way to structure future efforts.
To gauge how the public perceives this kind of research, the GPPC will hold focus group studies in six US cities and plans to interview “community leaders,” survey 4,000 individuals over the Internet, and conduct “town hall” meetings in these locations that it said will be attended by about 1,000 people [see briefs, this issue, for further details on the initiative].
Pharmacogenomics Reporter spoke with Joan Scott, deputy director of the GPPC, to learn more about the project and its implications for pharmacogenomics.
What sorts of issues do you expect to come up with in discussions with the public?
We want to try to understand very broad strokes about what, overall, the public thinks about such a project. And then, specifically, if they were to participate, what would be the incentives and why people would want to participate — and what would be some areas of concern about participating.
We would expect that privacy and confidentiality of information is going to be one of those. So that’s part of what we will be exploring in the consultation that we do about what are the expectations of participants and how their information would be used, and who would have access to that. And [the consultation would also address whether] they have expectations about getting information back to them personally.
In the current design of the [larger] project, we would be asking potentially quite a bit from the participants, so in addition to collecting DNA samples and getting access to medical and environmental information, they would be asked to be followed over time, and asked to be re-contacted.
That information would go into a publicly available database, so that’s where the confidentiality issue comes out.
But there are also issues around informed consent, and things at a community level. Are there particular segments of the community that would be more concerned about how the data were being used, or for what types of research this data was being used?
For example, someone could say, ‘Well, I would really not want my samples to be studied in any kind of genetic association with criminal behavior — study cancer, but not that.’
So, are there … concerns from the public about what types of things might be studied? I’m not sure that we quite know what people’s concerns or perceptions might be until we actually go in and start to talk about them.
Do you anticipate that population-study participants may want to know what their genetics say about their health?
Yes. Part of the purpose of [large population studies] — to collect DNA from such large numbers of individuals, as well as obtain information about their health, lifestyle, and environmental exposures — would be to try and tease apart, to begin to understand the relative contribution of genes and environment to different health issues.
So, as discoveries are being made, what would be the expectations that participants in this study would have about findings coming back to them? Either specific findings for them, or in the aggregate — [such as], ‘Just let me know if you have found a relationship to diabetes,’ as opposed to, ‘I, myself, have had a particular test.’
Are you likely to ask questions related to pharmacogenomics?
We will probably not query specific attitudes about pharmacogenetics. I would assume, though, that it will come up in the discussions about what some of the benefits coming out of this kind of study would be — this whole personalized medicine concept, being able to understand how treatments can be tailored to individuals, and how you’re going to respond to drugs.
I expect it to come up, but how directly we query about attitudes around pharmacogenetics, I’m not quite sure.
The other thing to point out is that if the overall project does get funded to do this large cohort study, ongoing public consultation is envisioned to be part of it. So, this first pilot here is to get some general impression, general information, to help NHGRI plan that process, should it get funded.
How large is the follow-up expected to be?
If the project gets funded as is currently envisioned — NHGRI had a working group about a year and a half ago that put together what that study would look like and how many people it might involve — they were looking at hundreds of thousands, up to maybe 500,000 individuals that would be followed over a period of 10 years. It’s quite a large study.
The consultation and the ongoing communication with the participants would obviously have to continue throughout that time period. So, another purpose of this pilot project is to test methodologies — what would participants expect in the way of ongoing dialogue? Who would they want to hear from and what would they want to hear, and what would be the best mechanisms for ongoing communication?
So, we’re also going to test some methods to do ongoing consultation with participants.
Are there other implications for pharmacogenomics?
Two things: One is that through this pilot consultation process, we’ll begin to see what people’s hopes will be coming out of such a study, and I’m assuming that pharmacogenetics is going to be prominent. So, I think we’re going to get some general attitudes about the promise of genomic research and what the public is hoping to see come out of it.
Then if the study actually does get funded and underway, I think it will provide a great deal of information that will help identify pharmacogenomic applications, just because of the science that will be coming out.
And the data are going to be publicly available for access by researchers, so I think it will provide a huge resource that will potentially push along the whole pharmacogenomic [field].
Where and when will data about the consultation be made available?
We will be reporting back to NHGRI as we go along, but we will also be making that information publicly available through a series of reports, articles, et cetera.
We will begin to have the focus groups and the interviews with community leaders in the spring. I would imagine that we would have data analyzed and have something reportable by the end of summer – early fall.
And that will help inform the next phase, which will be the survey. And then in the last phase — in the spring of 2008 — we’ll be holding town-hall meetings.

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