Tip:
Highlight text to annotate it
X
Malia Fullerton: With this -- do you think it will work? So
-- is this on? Does this sound like it's on? Yes, it is on. Okay, great.
So, thank you so much Charmaine for kind of doing the quick overview. The moderator of
the last discussion opened up questions to the panelists of each other. I'm not going
to ask you guys to do that. That wasn't the plan. But, rather, we thought we might actually
start by trying to bring all of you in the room a little taste of the kinds of conversations
that we were having as part of this roundtable discussion. Now, I know that a certain proportion
of you in the audience were actually participants in the roundtable, but not all of you were.
And so I want to ask you, for a moment, to put yourselves in the shoes of someone who
might have had a chance to participate in this kind of multi-disciplinary, multi-stakeholder-type
conversation that Dr. Royal described, where you're coming with your particular interests,
your particular points of view, and you're being tasked with coming to consensus about
the meaning, and uses, and applications, and potential regulation, and things like that,
of this interesting, exciting, but possibly, as was noted by the last set of panelists,
not all that well-understood yet, science.
So one of the things that we ended up spending a lot of time talking about was just, what
is this thing, ancestry testing, right? So probably all of us have some sense of genes
and genetics, and we saw images of double helices, and we saw pictures of families and
resemblance, but what is ancestry in the context of genetics? And what is ancestry testing?
When I posed that question -- and again, I'm not going to ask these guys because they were
there, and I was there -- but what do all of you -- what would be your answer? If you
were someone who was there and you were trying to reach consensus with people, what would
your answer to that question of what ancestry testing is, what it means to you? Now that
you've been here all day, how do you think about this technology in the light of the
sociocultural, and historical, and artistic, and other types of implications and meanings
that we've been talking about?
Please, anyone.
[laughter]
Microphone. No? But you all had -- every time we asked someone to ask a question earlier,
everyone -- there were people jumping up.
Female Speaker: All right. We've got a couple people. Yeah,
great.
Sandra Urahli [spelled phonetically]: What I have -- I'm Sandra Urahli from Trinity
Washington University. I have family from Mississippi and I have become interested in
knowing more about the family history. So I have actually -- it was interesting to see
some of the photographs of the 1870 census because I was able to find that, and I found
my great-grandfather in those records.
And I had been interested, and have been interested, in trying to figure out how I might have some
genetic testing done, sort of to give us a better idea of our genetic origins. But as
I listen to the conversations today, and some of the concerns about the reliability of those
data as presented, I'm not sure that it's going to provide for me the kind of information
that I want, at the level of accuracy that I would like.
Malia Fullerton: Okay. So, I hear you saying "intriguing,"
but maybe won't be giving you the answers that you're looking for. Is that paraphrase
about right? Yeah?
Yes, what would you say?
Female Speaker: Hi. My question would be -- well, my answer
would be, it depends on the context of how you use it. And if a person is using ancestry
in order to have a deeper meaning to understand themselves, or if you're using it to connect
you to someone else or another group of people, or you're using it from the position of trying
to classify other people -- it depends on the context of how you use it and what information
you're looking for from it.
So if you're looking to be more precise, as I guess we were able to see here, that the
precision isn't what some would like, and for others, it's a lot more than what we've
had before. So I will stand by, "It depends on the context."
Malia Fullerton: Right, so, context-dependent. Anyone else
what to venture an opinion?
Mike, you haven't had a chance to speak yet. Let's pretend like you weren't there.
[laughter]
Michael Bamshad: So, let's see, is this on? You know, I think,
from our perspective, ancestry testing, and even more specifically, genetic ancestry testing,
can be defined rather broadly. So one of the first questions, and Charmaine mentioned that
what we did is split up into smaller groups, and then each of the small groups came together
for a larger group discussion. In many of the small groups, in fact, one of the first
questions that was asked was, does a genetic inference of ancestry depend upon doing a
test with DNA?
So there are many types of inferences, even genetic inferences, of ancestry that one can
make from sources other than DNA. In fact, you can get a blood test and look at a cholesterol
level, and that could give you some information about ancestry. Clinicians, particularly clinicians
who focus on medical genetics problems, might be able to look at an individual and make
an inference about their genetic ancestry.
So that was actually one of the first topics of discussion in our small group, was whether
you actually had to do a test with DNA, in other words, get a direct estimate of genetic
ancestry, in order to constitute a genetic inference of ancestry. So that's one of the
points that we struggled on.
Malia Fullerton: And then there were also questions, weren't
there, Charmaine, about which sort of ancestors one might be able to access via genetic test,
right?
Charmaine Royal: Right.
Malia Fullerton: So we have people who might be interested
in understanding their heritage going to the 18th century, for example. There's some people
who might be interested in ancestry of thousands of years ago. And there were other people
who were interested in understanding about near relatives, people whose family relationships
have been disrupted in some way and are looking for connections.
I don't know if you have any other comments. Before we do the reveal --
Charmaine Royal: No. I mean, people -- no, go ahead.
[laughter]
I was going to say, people do go into this for various reasons in terms of what they're
looking for. As someone said, it may not provide her with what she's looking for, but for other
people it's very informative, and they really rely on the information. And we'll talk a
bit more about that kind of reliance on genetics.
Female Speaker: One of the things -- I'm a genetic genealogist,
and I was at the conference, and I'm the president of a large genealogy convention -- association,
with 2,200 members. There's a lot of confusion. "Ancestry" is the broad term. "Genealogy"
is looking for specific individuals. And oftentimes we're using "ancestry" when we're meaning
"genealogy." And so, there's a relationship, certainly, but there are some differences.
Malia Fullerton: Yes, and you're capturing some of what we
spent time talking about, was all of these different ways in which ancestry could be
understood.
Michael Bamshad: Right, and if I could add to that. You know,
one of the other things that we still struggle with, despite the consensus statements that
we've come up with, is that you can -- you can define ancestry in many different points
in time. So it's very easy for us to think about ancestry when we're thinking about parents
and our grandparents. And it's, perhaps, easy to think about our ancestry when we talk about
modern human origins emanating from somewhere in East Africa. But, remember, anything in
between those two points is also ancestry. And we arbitrarily decide where to define
what we're looking at, back in terms of time and space. And that's where we have much more
difficulty when we talk about ancestry, because often, we're talking about different points
in time and in space.
Linda Heywood: Yeah. I would like to deal with the question
of admixture because now that's a big part of this sort of cutting-edge, that you can
get more refined, you know, information with the admixture tests. And for my particular
admixture test, the first set of results I had indicated that I had, in the 70s, African
-- 17, or so, to 19 percent Euro, American, you know, white. And then, something like
3, or so, percent Native American.
Now, I had grown up with the story in the Caribbean that my grandmother actually was
Carib. So when my kids were growing up, I actually, you know, told them the story about
their Carib ancestor, and Native American, that would be in America. And as I got the
test, and my younger daughter, who's now a doctor, she has a fellowship in infectious
diseases, grew up with that. So when she was at Harvard as an undergraduate she actually
-- she did a course on Caribbean history, and -- with Orlando Patterson -- and, in fact,
decided to do her paper on the Caribbean, you know, on Native Americans in the Caribbean.
Of course, she had grown up with this story from her mother about, you know, this Native
American ancestry.
I had to sort of divest of that story when I found out that it was more the European
mixture and the Fulani mixture in my, you know, ancestry that may have been responsible
for the non-African. And just the -- every time -- it would seem to me that the Native
American sort of presence seemed to be shifted a lot. And I don't know whether it's because
of, you know, enough data hasn't been -- but that's where the big problem is, I think,
in the Native American, because a lot of, even in America, a lot of Afro-Americans have
stories of their Native American ancestry, and then when we get the results, that's not
it.
Can you sort of, you know, explain some of the problems with admixture testing?
[laughter]
Michael Bamshad: Problems. So, let me try to put that in the
context of what, of the comment that I just made in the sense that, to a large extent,
and particularly in the United States, we're all admixed. But whether you're admixed or
not, and to the extent to which you're admixed, and the populations that served as the source
for that admixture, are highly dependent on assumptions you make about the type of DNA
genetic -- the type of DNA test that you're doing, your reference populations. And that
goes to where you're making that line, back in time and in space, and deciding, essentially,
where to look.
So there are a lot of assumptions that are made in virtually all the tests that influence
whether or not you get a particular percentage of admixture from one population or another,
or are considered admixed at all. And you've heard some of those. I mean, one of the consistent
themes through this day has been that your ancestry estimations are highly dependent
upon the reference populations that are used. And right now, we have only a very limited
sampling of worldwide populations. So if the population from which you have admixture simply
isn't represented in that sampling, then you're going to get an estimate from the next closest
population. And that next closest population could be quite different than the real population
from which your admixture rose. But there are a whole host of assumptions and different
data sets that are used that go into these admixture estimates.
And, just for a moment, that kind of gets to something that was brought up by the last
set of speakers, and that they were surprised that science is gray.
[laughter]
You know, no bad pun intended, but science is virtually never black and white. It's always
gray. And not only do we not always have the answers, if we had all the answers, we wouldn't
be doing science any longer. Good science means that you try to answer questions, and
in the process of doing so, you raise 10 other questions that you move on to answer. And,
in fact, often you prove, initially, the question that you asked is the wrong question to ask,
so...
Charmaine Royal: Yeah. I think that the conception, or, yeah,
or the idea that science is black and white, or the idea that science is always right,
in part has to do with how science is presented, how scientists present their science, how
journals present science. And so I think there has to be -- a lot is done with the interpretation
of the information that leads people to believe that science is supposed to be a particular
way, or a finding means a particular thing. I think a lot of it has to do with how it's
translated from the findings to the public or to other scientists.
Malia Fullerton: Yeah. And, you know, and I think also, in
this domain in particular, not only do we sometimes think that science is black and
white, but we often -- which is why it's so wonderful that we just had the panel before.
We often think of science as being locked away in the lab and separate from us out here
in the rest of the world. But particularly, I think, in this area of ancestry testing,
I mean, it was just abundantly clear in our discussions, the people who are engaging in
this testing, who are interacting with one another in social media, who are coming back
to the laboratories and saying, "But you gave me this result last week, and now you say
the result is this," that they are actively co-producing information about what ancestry
is and what ancestry means together with scientists. That this isn't about the scientists in the
lab saying what ancestry is, but it's all of us collectively together. And I was watching
that going on in this roundtable. It was really remarkable.
Michael Bamshad: Yeah. I know you had a question, so I just
wanted to add that science is very much a social process. It's not done in isolation.
The questions that we ask are often questions that we think are going to be important, are
going to be fundable. And right now, I'd go so far as to say that the African-American
community is certainly driving a lot of the most interesting questions that are being
asked about, not only ancestry testing, but population genetics and human genetics in
general.
Malia Fullerton: Yeah. No, that's a great point. Karen [spelled
phonetically].
Female Speaker: So, this isn't really a question, but maybe
an insight from the day. First of all, you said -- you asked the question about ancestry,
so maybe I'm a product of Alex Haley's series when I was growing up or -- but, you know,
to me it was roots. And, you know, of course, that's contextual, how you look at your roots.
But I wanted to pick up on -- just pick up on where you left off. The -- probably the
greatest insight from the day is that ancestry testing, I think, we see as objectifying,
or sort of validating a story. So, you know, you have this story from your family, and
then the ancestry testing is either going to validate it or raise new questions. And
why have we privileged one over the other? Because maybe the story is right and the test
is wrong. Or maybe it's a little bit of both.
And what the insight from the last panel with art, was I thought, boy, the art's there to
objectify some of this stuff that didn't have a context. You know, I mean, looking at the
picture. Like, "a picture's worth a thousand words" kind of thing. So I thought the day
was -- there was a level of humility among the scientists, and a level of humility among
the rest, perhaps as well, to realize you can't have one without the other. I mean,
in order to give this context, you need to integrate it with what you know about the
stories, what you know about what they look like, what you know about the interactions,
what you know about the social context. And -- but you can't look at any of them in isolation.
So, I don't know. I don't know. I wasn't at your reveal you were making.
Malia Fullerton: Well, but I mean, I think that was a big take-home.
Yes, thank you.
Michael Bamshad: But I'd say it even more explicitly in a sense
that, you know, you saw that there was a plot that showed, kind of, what individual samples
from across Europe, where they -- how different they were from one another. And the plot looked
very similar to where they were sampled from Europe. Remember, that if we didn't know where
those individuals came from, so if we didn't know something about their history, we wouldn't
know how to interpret that plot.
Malia Fullerton: They'd just be dots. Yes, yeah.
Michael Bamshad: So, in fact, without history, without anthropology,
without the social sciences, we couldn't interpret these genetic data the way that we do. And
so they're very much a process that are intertwined with the other sciences.
Female Speaker: [inaudible]
Malia Fullerton: Yeah, very true. Yes, please.
Male Speaker: I have a question about one of the bullets
that you presented early on that said something to the effect that population genetics need
improved, quote, "enforced standards," end quote. And I -- part of my background has
to do with -- is in the forensic sciences community. As you may know, that community
has faced, and is facing, this question about -- and I mean the scientific societies -- about
how to establish and "enforce," in quotation marks, standards among their members. I would
really like to hear from you folks about what sort of discussions touched on that aspect
of this problem.
Michael Bamshad: Well, we did have a small group and large
group session devoted to this issue. And we actually were able to achieve some consensus,
that consensus being that it would be helpful to have some standards against which ancestry
testing could be assessed. That is, making certain that the data, the methods, the models
that are used are described to people who are using ancestry testing. And this is true
for researchers doing ancestry testing as well as direct-to-consumer ancestry testing
companies. And that this information is transparent, at least as transparent as can be. Ideally,
some of this -- all of this information will be publicly available. But, for example, some
of the -- some of the information a researcher or company might use, in terms of what are
the -- technically, what are some of the -- what is some of the information about the populations
that they use as reference populations, that could be considered proprietary.
So we actually did agree that some standards would be helpful, not only to consumers and
participants and researchers, in research, but also to the individuals who are doing
the work, in other words, the researchers and the companies themselves. Because one
of the concerns that we had is that the credibility of the research or the credibility of the
product coming out of a company could be undermined if people weren't confident that the results
that they were getting met a certain set of standards.
Male Speaker: I guess I was more -- I was more interested
in the enforcement part, because that's something -- I don't know if your society has already
had experience with various means of enforcement, such as accreditation, or whether that was
something that you discussed during your meeting.
Malia Fullerton: Charmaine, what?
Charmaine Royal: No, I was just going to say, we didn't get
into the nitty-gritty of what enforcement meant or what it would look like. So our plan
-- we developed these consensus statements, we completed them yesterday. We're going to
continue working on them and refine them, and likely, we'll publish them at some point.
And those statements will lead to the guidelines that we talk about developing.
And when we get to that point, we'll really come to decisions about what enforcement will
look like. And those decisions will be made in concert with researchers and companies,
because it doesn't make sense for us to lay down the law about what enforcement should
be if it's not going to happen. So we meet those stakeholders at the table, too, in terms
of deciding how we will enforce these things. So we're going to -- we hope to get to that
point.
Malia Fullerton: Yes, thanks.
Michael Bamshad: So I was going to say, you know, one of the
things that I heard discussed was actually some of the users of the ancestry testing
companies are also -- they're also very interested in standards, because they want to know that
the information that they're receiving is reliable, and doing something like a seal
of approval. So, such a seal might motivate a company to -- you know, they might realize
that it's to their benefit to have such a seal because then their product might look
more attractive to a potential buyer.
Malia Fullerton: Yes, please.
Female Speaker: Hi. I wanted to know if you could elaborate
on the bullet point about federal regulation possibly not being needed. When I read that,
what immediately came to mind was a bill that recently died in a legislation in California,
where the bill was basically proposing that donor consent was needed for the genetic testing
and analysis of, I guess, you know, body -- any, you know, hair parts, or, you know, skin that
is obtained, you know, by chance. And so in -- along those lines, it made me think of,
like, genetic surveillance. And so, if we don't have, you know, any sort of regulation
on a federal level, what are the possibilities of, you know, in a day and age of, like, hacker
spaces and bio-hacker spaces, where people can, you know, have easy access to kits that
will allow them to extract DNA from random hair fibers that they've come across and use
any sort of online database to make any sort of, you know, referencing.
Malia Fullerton: Yeah, well, would either of you like to -- we
didn't talk about that explicitly as part of the roundtable, but, I mean, thoughts?
Charmaine Royal: And there are some people who have recommended
or suggested that some entity, whether it be the FDA or the Federal Trade Commission,
needs to regulate ancestry testing. Well, there's been a lot of discussion ongoing about
the regulation of direct-to-consumer genetic testing more broadly, and really focusing
a lot on health-related genetic testing. And there are questions about what's going to
happen in that arena.
And so the likelihood that the FDA, or the FTC, or some other organization will take
ancestry testing on and regulate it is pretty slim, I think, at this point. And one of the
things that we thought is, well, let's see if there are alternatives to federal regulations,
considering that it may not happen, but alternatives in terms of getting -- of encouraging the
kind of behavior that we would like to see. And then if that doesn't work, then maybe
we need to think about federal regulation. But I think we -- in the white paper we thought
of it as a step-wise process, in terms of let's start here and see what we what we can
come up with in terms of guidelines that the stakeholders agree on, will be feasible and
practical, and that they will adhere to before thinking about going further.
Michael Bamshad: And just to be clear, that, you know, we were
specifically talking about federal regulation of genetic ancestry testing. So there is federal
regulations for clinical genetic testing, there is federal regulation about consent
for use of samples, there's federal regulation about storage of healthcare-related data.
So there is -- for many of the issues that you brought up, there is federal regulation
that provides oversight. We were narrowly focused on ancestry testing.
Malia Fullerton: Yeah. So we're -- I see that we're getting
close to running out of time. What we wanted to do was kind of open this up and see what
you all thought, and then to kind of just give you an example of one of the 24, 25 consensus
statements that we came up with. And so -- and we probably -- we had a few others back pocket,
but we're probably just going to give you this one.
So when we had discussion, and recall, we did this by breaking into small groups and
having discussion in our small groups, and then coming back together as a whole to have
further discussion, we agreed, ultimately, as a group, and then voted anonymously, to
ratify this particular statement of our understanding in the roundtable of what genetic ancestry
inference means.
And we said, "Genetic ancestry inference uses regions of the genome that inform us about
individual, genealogical, population, and/or geographic ancestry by comparison of similarities
to a reference sample or samples. There are many different types of ancestry tests that
use Y-DNA, mitochondrial DNA, autosomal, or the X-chromosome, or X-chromosome markers,
information about parentage, kinship, and identification that can be captured by ancestry
tests and vice versa, and, importantly" -- and this is something we spent a fair amount of
time talking about -- "this information can also be used for forensic applications."
And I know that this has come up obliquely a couple ways today, but I think it's important
for us to realize, as we kept kind of pointing out, the very same technologies, the very
same information, can be used in these very diverse ways, all of which can tell about
ancestry and can tell us about other things, including possibly identify samples at a scene
of a crime, for example.
So, there you go.
[laughter]
[applause]
I don't know if people have any final thoughts or, Vence, as you're coming up, because you
were a participant in the roundtable, if you have any reflections or thoughts on the roundtable
and its relation to the discussion we've been having here today.
Vence Bonham: I'm looking forward to seeing the publication,
and to hear the conversation with the industry and with the different constituencies. And
just like today is just the start of a conversation and exploration, and I think from the perspective
of the National Human Genome Research Institute, we are particularly interested in it. And
both from the perspective of how it helps to communicate information and enhance the
literacy of the public, but also the broader issues of how we understand genetics and genomics,
and what it means about our identity and who we are.
So I think we're all just beginning today.
Female Speaker: Yes.
Vence Bonham: But I know it's 6:00, and we're actually going
to stop on time. And I want to just thank everyone for today. And, again, on behalf
of the planning committee, I want to thank you for your commitment to be here all day,
for those that are here, and for the conversations we're having. There is the event this evening
that starts at 7:30, where Ms. Gwen Ifill and Mr. Lonnie Bunch will have, revealed by
Skip Gates, some information about their history, their genealogical history, as well as information
shared about their genomic history. And then we'll continue the conversation about what
that means, and what that doesn't mean, and how do we think about it.
I invite you all. If you don't have a ticket, you can get a ticket from the registration
desk for this evening. It is wet out, for those who haven't seen the weather, but -- and
the building is closed, so it is now secure building, so it is only out after you leave
the auditorium. But I just want to thank everyone, and a round of applause for all of our panels
today.
[applause]