Thanks, Trudy. My name is Eric Juengst. I'm a philosopher
by training; I teach medical ethics and philosophy of science at the Medical
School at Case Western Reserve University. I also worked for a while
at NIH with the Human Genome Project, back when it was the only initiative
that could claim the title, "the lightning rod of human genetics."
These days, there are a number of genetic research initiatives that seem
to be lightning rods for public attention and controversy That's
in part because the Genome Project itself is at the stage where it's getting
ready to reproduce, it is expecting not just one baby, but at least sextuplets!
I want to begin my remarks by showing you the six progeny of the Genome
Project that I think are relevant to our discussions. Right now,
there are discussions going on within NIH and the scientific community
about how best to use the tools of the Genome Project to pursue each of
six new areas, initiatives: 1) pharmacogene, 2) functional genomics, 3)
the Environmental Genome Project, 4) The Human Genome Diversity Project,
5) complex trait genetics, 6) Public Health Genetics. I won't go
through them all, except to say that the Human Genome Diversity Project,
which most of you know most about, is just one of the siblings, the one
that the anthropologists and evolutionary biologists are interested in.
But all these initiatives have something in common with the Diversity Project
and each other, and that is all these initiatives are based on the technique
of looking at the variations between the genome of individual human beings
and looking at the differences between those, the gene frequencies of different
groups, different populations. They all involve, in other words,
comparative human genomics, which in practice is comparative population
genomics. They involve comparing genetic differences between human
If comparative population genomics is going to be the basis for the
next century's medicine and pharmacology and epidemiology, it bears spending
a little time thinking about the assumptions that go into the science.
And one of the first questions is: what counts as a group for purposes
of genomic comparisons? What are the groups that are appropriate
to compare when you are doing genetic studies? That's the question
for the first part of our workshop, the question for the first session
here this morning. It sounds like a pretty theoretical -- even philosophical
-- question, but it has some practical consequences for researchers, some
of which are listed in the questions in the workshop brochure.
First, who should be responsible for identifying -- targeting, if you
like -- the groups that we study? The scientific community?
The political entities that govern the groups? Representatives from
different groups? There was one proposal that essentially we ought
to do this research like we do the rest of clinical research in medicine,
and simply put out a call for volunteers, and let groups come forward on
their own, without any prior identification by us of who would be interesting
to study for particular reasons. Well, most of the time that's not
how it is working; most of the time we have an idea ahead of time of who
we'd like to study. But that's at least a logical possibility.
Secondly, should researchers try to avoid using socially defined group
boundaries in designing genetic studies? Why or why not? And
finally, what about human, nested human groups, in which a research on
a subgroup has implications for the larger whole of which it's a part.
How would you distinguish between subgroups and supergroups in those situations?
We'll have three short sets of remarks. I'll go first, and then
Frank Dukepoo will follow me. I'll introduce them now, so that we
won't have to take time during the remarks. Frank teaches in the
Department of Biological Sciences at Northern Arizona University.
He says in his bio, that he is a full-blooded American Indian of Hopi and
Laguna heritage, and he's one of six Indians nationally who hold earned
doctorates in the sciences, and the only Native American geneticist.
Our other speaker is Mike Bamshad. He's the Assistant Professor of
Pediatrics at the Eccles Institute of Human Genetics and the University
of Utah. His research interests include the identification of disease
genes, limb development, and evolution.
Well, my remarks will be short, and just to put my cards on the table,
I guess what I want to suggest is that I think the second question of these
questions. ("Should researchers define the groups they study in terms
of socially constructed communities in the first place?") My answer
would be, in a lot of cases, no. I guess I've been convinced by the
arguments of people like John Moore, who suggest that it's going about
the study of human differentiation, and even the study of human migration,
around the globe backwards, to start with our current set of culturally
perceived, socially constructed groups, and sample them for DNA in order
to reconstruct a pattern of lineages into the past. He's agreeing,
with Alan Wilson's original vision for the Diversity Project, which would
have simply sampled randomly around the globe, and let the lineages and
populations, the genetic demes, if you will, emerge from the data as they
would, without reference to the peoples that they were sampled from.
Those kinds of correlations would come later, but they wouldn't be the
premise, the starting point, the frame, for the study itself.
Why should we go about it that way? Well, John's arguments are
scientific, he argues that it avoids the bias that starting with the culturally
constructed groups imposes on the stories that we tell. He says you'll
get the answers you're looking for if you're looking for differences between
groups. Although modern population genetics tells us that the
human demes that we could eventually construct, will look very different
than the map of human communities that we live in, it's still possible,
if you look for the right markers and use the right markers, to find markers
that differ between most of the people in the socially constructed human
communities. So you can tell those stories; but your conclusions
will be built in from the beginning.
Moreover, I think it makes this comparative genomic research particularly
hazardous. We're used to thinking about genetic research as a two-edged
sword. The Genome Project has done a lot of work analyzing the relative
risks of finding out an individual's genotype and weighing that against
the relative benefits. I think we're at the next level of difficulty
here with the comparative group work; it's actually a four-edged sword.
Imagine how tricky this would be to wield in a safe and useful manner,
without cutting yourself in the process. The four edges are on two
distinct blades of the research -- on the one hand, we're interested in
the diversity, the differences, the variation, that we can find between
people, and we're interested in that because of at least for the biomedical
efforts, of the ways we might be able to tailor our health care interventions
to people with differential genetic weaknesses and strengths.
On the other hand, by the same token, as you identify people with differential
susceptibilities, weaknesses and strengths, you also label them with those
weaknesses and strengths, and as we have come to know that the Scots Irish
are likely to go awry in one particular direction or another, then that's
another burden to our reputation that we have to bear. These are
the reputational risks that Hank Greely talks about. On the third
hand, what the geneticists tell us, we'll mostly find in doing these studies,
is a lot of similarity between human groups, much more similarity than
difference. That has the advantage of cutting against the social
line we draw between ourselves and others, fighting against racism this
will show that we're really one big human family. On the fourth hand,
it will also show that the identities we build for ourselves that are built
on those differences may not jive with science. Whether or not you
want to buy the scientific story of your origins as opposed to the cultural
story of your origins that you build your identity around, will become
an issue for the communities whose origin stories are contradicted by the
scientific discovery of similarity with other groups.
Moreover, I'm afraid that we don't have any really good way to protect
groups against the negative edges of these blades. And I guess that's
where it comes down to the discussion point: If we want to work with socially
identified groups, can we do it in a way that protects them from these
possible adverse consequences? The two main protections we have to
offer is that we can try to get their consent to participate, let them
know what the risks are, and if they don't want to participate, presumably
shield them from those risks by not having their genetic differences uncovered;
and we can try to keep the results secret, by preserving their confidentiality
by not identifying them as the social group we studied in order to get
these genetic results. Both of these can be useful gestures in dealing
with a people respectfully; both of them, I think, are pretty limited in
the protections they can actually provide for the members of the group.
Just to look at the group consent idea, my worries there are that it feeds
what we'd like to avoid: the conflation of our social identities, these
social groups, with a biological sense of a population. When
one says, "You are the group that's authorized for a study of the genetic
population to which you belong," that suggests that you, the social authority
group, and the population are one and the same, a view we don't believe,
and we expect the research, actually, to eventually contradict.
Moreover, as long as there are supergroups to which this group belongs,
the protections are limited if another subgroup is willing to go along
with the research. And, of course, we also live in a world full of
diasporas. There are expatriates from almost all social groups, so
that if we decide to study the unique genetic complexion of the Hmong,
why go to the elders of the Hmong in Southeast Asia? Why not go to
the Hmong college student in Minnesota? It would be odd to think
we would let the elders in Southeast Asia prohibit an American citizen
from joining a research study that's been duly approved by our own IRBs.
So I'm not sure that the idea of containing the problem by requesting
consent will take us very far. At best, the group that refused can
always say, "They didn't use our genes to make that outrageous claim about
the supergroup," [or] "It wasn't us when they said that Southwestern
Indians carried the gene for alcoholism, that was another tribe."
But I'm afraid that's [a] pretty weak defense, when you are a Southwestern
Indian, and now you do face the burden of being in that pool of people
who've been labeled with the alcoholism gene. That's one reason,
of course, that sheer anonymity about the specific identity of the groups
won't help. We got the two articles in our packet about the genetic
studies of alcohol dependence in a Southwestern Indian tribe, that wasn't
identified in order to protect confidentiality. Well, that's a good
move, but as a result, the sphere of repercussions for that study, if there
are any repercussions, is much broader now: it's the whole supergroup of
Southwestern American Indians that will have to pay any price there is
to pay for that research. I guess what I'm wondering is whether we
can get beyond looking at the phenotype and move into more of an Alan Wilson
field biology approach, and work from the genes up to build our sense of
what the relevant genetic populations are. The map of those populations
probably won't look much like our map of political and social entities.
*This talk has been edited for web publishing by the author.