Asian American History
Genome BBiioollooggyy 2008, 99::404
Open letter TThhee eetthhiiccss ooff cchhaarraacctteerriizziinngg ddiiffffeerreennccee:: gguuiiddiinngg pprriinncciipplleess oonn uussiinngg rraacciiaall ccaatteeggoorriieess iinn hhuummaann ggeenneettiiccss Sandra Soo-Jin Lee1, Joanna Mountain 2,3, Barbara Koenig4, Russ Altman5, Melissa Brown6, Albert Camarillo 7, Luca Cavalli-Sforza3, Mildred Cho1, Jennifer Eberhardt8, Marcus Feldman9, Richard Ford10, Henry Greely10, Roy King11, Hazel Markus8, Debra Satz12, Matthew Snipp13, Claude Steele8
and Peter Underhill3
Addresses: 1Center for Biomedical Ethics and Department of Pediatrics, Stanford University, Welch Road, Palo Alto, CA 94304, USA. 223andMe, Inc., Bayshore Parkway, Mountain View, CA 94043, USA. 3Department of Genetics, Stanford University, Stanford, CA 94305, USA. 4Program in Professionalism and Bioethics, Mayo Clinic, First St. SW Rochester, MN 55905, USA. 5Departments of Bioengineering, Genetics and Medicine, 6Department of Anthropology, 7Department of History, 8Department of Psychology, 9Department of Biological Sciences, 10School of Law, 11Department of Psychiatry and Behavioral Sciences, 12Department of Philosophy, 13Department of Sociology, Stanford University, Stanford, CA 94305, USA.
Correspondence: Sandra Soo-Jin Lee. Email: [email protected]
Published: 15 July 2008
Genome BBiioollooggyy 2008, 99::404 (doi:10.1186/gb-2008-9-7-404)
The electronic version of this article is the complete one and can be found online at http://genomebiology.com/2008/9/7/404
© 2008 BioMed Central Ltd
Since the completion of the Human
Genome Project, research focused on
human genetic variation, including
differences among groups, has intensi-
fied. This focus has rekindled debates
about the connection between genetic
(DNA-level) traits and human ‘racial’
difference [1-5]. Scholars are divided on
the question of whether racial categori-
zation is an appropriate means of
organizing potentially useful genetic
data or a pernicious reification of his-
torically destructive typologies [6,7]. To
explore these issues, faculty from the
humanities, social sciences, life sciences,
law and medicine at Stanford Univer-
sity convened over the past few years to
engage in an extended interdisciplinary
dialog. The initial meeting consisted
of a two-day workshop in 2003 that
developed into an ongoing faculty
research seminar sponsored by the
Stanford Humanities Center,
Affymetrix Corporation, the Mellon
Foundation and the Research Institute
of the Center for Comparative Studies
on Race and Ethnicity. This seminar
series, which continued for two years
and culminated in a public conference,
included invited experts and led to the
publication of a collection of essays [8].
Our goal was to generate principles to
guide the use of race and ethnicity
categories in research in human genetic
variation. Central questions included the
following: Can we find areas of common
ground? Do we agree about the
implications and interpretation of
emerging genetic data? Under what
conditions might genetic data transform
social understandings of racial and ethnic
categories, possibly enhancing racist
ideologies? From this discussion, we have
endorsed ten statements discussed
below. Although not an exhaustive
consideration of the broad range of issues
that deserve attention, this article is
intended to promote interdisciplinary
dialog on these important concerns and
to encourage responsible practices.
SSttaatteemmeenntt 11:: WWee bbeelliieevvee tthhaatt tthheerree iiss nnoo sscciieennttiiffiicc bbaassiiss ffoorr aannyy ccllaaiimm tthhaatt tthhee ppaatttteerrnn ooff hhuummaann ggeenneettiicc vvaarriiaattiioonn ssuuppppoorrttss hhiieerraarrcchhiiccaallllyy oorrggaanniizzeedd ccaatteeggoorriieess ooff rraaccee aanndd eetthhnniicciittyy The equality of rights of all human
beings is an unquestionable, moral
claim that cannot be challenged by
AAbbssttrraacctt
We are a multidisciplinary group of Stanford faculty who propose ten principles to guide the use of racial and ethnic categories when characterizing group differences in research into human genetic variation.
descriptive, scientific findings [9-11].
As a normative commitment, equality
is fundamental to our conception of
human rights, and is not open to
debate. Classification by racial and
ethnic categories has, at particular
moments in history, been used to
further racist ideology [12]. In view of
concerns that linking of emerging
genetic data and race/ethnicity
categories may promote racist
ideologies, we emphasize that there is
no scientific basis for any claim that
the pattern of human genetic variation
supports hierarchically ranked
categories of race or ethnicity.
Furthermore, we abhor any use of
genetic data to reinforce the idea of
between-group difference in order to
benefit one group to the detriment of
another.
SSttaatteemmeenntt 22:: WWee rreeccooggnniizzee tthhaatt iinnddiivviidduuaallss ooff ttwwoo ddiiffffeerreenntt ggeeooggrraapphhiiccaallllyy ddeeffiinneedd hhuummaann ppooppuullaattiioonnss aarree mmoorree lliikkeellyy ttoo ddiiffffeerr aatt aannyy ggiivveenn ssiittee iinn tthhee ggeennoommee tthhaann aarree ttwwoo iinnddiivviidduuaallss ooff tthhee ssaammee ggeeooggrraapphhiiccaallllyy ddeeffiinneedd ppooppuullaattiioonn Research in human genetics has high-
lighted that there is more genetic
variation within than between human
groups, where those groups are
defined in terms of linguistic,
geographic, and cultural boundaries
[3,5,13,14]. Patterns of variation,
however, are far from random. We
recognize that human population
history, including major migrations
from one continent to another as well
as more short-range movements, has
led to correlation between genetic
variation and geographic distribution
[14-17]. This finding is particularly
true of indigenous peoples;
populations characterized by a high
degree of interaction with neighboring
groups adhere less to these patterns.
SSttaatteemmeenntt 33:: WWee uurrggee tthhoossee wwhhoo uussee ggeenneettiicc iinnffoorrmmaattiioonn ttoo rreeccoonnssttrruucctt aann iinnddiivviidduuaall’’ss ggeeooggrraapphhiicc aanncceessttrryy ttoo pprreesseenntt rreessuullttss wwiitthhiinn tthhee bbrrooaaddeerr ccoonntteexxtt ooff aann iinnddiivviidduuaall’’ss oovveerraallll aanncceessttrryy An individual’s ‘geographic ancestry’ or
‘biogeographical ancestry’ can be taken
to mean the sum of all the geographic
locations inhabited by an individual’s
biological ancestors. Often, however,
genetic data reflect just a small subset
of these ancestors. For example, know-
ing a person’s Y-chromosomal lineage
is at best a partial view of an indivi-
dual’s ancestry. We note also that in
some cases individuals’ or groups’ self-
identification differs from their bio-
geographic ancestry, depending on a
range of historical, cultural and
sociopolitical factors. We see value in
recognizing both biogeographical and
cultural ancestry that underlies an
individual’s and group’s identity,
particularly in the context of addressing
health disparities.
SSttaatteemmeenntt 44:: WWee rreeccooggnniizzee tthhaatt rraacciiaall aanndd eetthhnniicc ccaatteeggoorriieess aarree ccrreeaatteedd aanndd mmaaiinnttaaiinneedd wwiitthhiinn ssoocciiooppoolliittiiccaall ccoonntteexxttss aanndd hhaavvee sshhiifftteedd iinn mmeeaanniinngg oovveerr ttiimmee Human genetic variation within conti-
nents is, for the most part, geo-
graphically continuous and clinal,
particularly in regions of the world
that have not received many
immigrants in recent centuries [18].
Genetic data cannot reveal an
individual’s full geographic ancestry
precisely, although emerging research
has been used to identify geographic
ancestry at the continental and
subcontinental levels [3,19]. Genetic
clusters, however, are far from being
equivalent to sociopolitical racial or
ethnic categories. Diverse populations
identified as ‘Hispanic’, for example,
are heterogeneous and have distinct
ancestries and social histories [20].
We recognize that social experiences
and conditions inform racial identity,
making such identity a poor proxy for
genetic ancestry.
SSttaatteemmeenntt 55:: WWee ccaauuttiioonn aaggaaiinnsstt mmaakkiinngg tthhee nnaaiivvee lleeaapp ttoo aa ggeenneettiicc eexxppllaannaattiioonn ffoorr ggrroouupp ddiiffffeerreenncceess iinn ccoommpplleexx ttrraaiittss,, eessppeecciiaallllyy ffoorr hhuummaann bbeehhaavviioorraall ttrraaiittss ssuucchh aass IIQQ ssccoorreess,, tteennddeennccyy ttoowwaarrddss vviioolleennccee,, aanndd ddeeggrreeee ooff aatthhlleettiicciissmm Among the most pervasive and perni-
cious claims of genetically determined
traits are theories on the racial ordering
of intelligence [21,22]. Despite the weak
scientific basis for such ordering, the
consistent return to the rhetoric of
racial hierarchies of IQ reflects the
powerful role that science has
historically played in promoting
racist ideologies [23]. Current
evidence suggests that for most
complex behavioral traits,
contribution of any one gene to
normal variation is small and these
traits may be more fully explained by
variation in environmental factors.
We therefore caution against making
the naive leap to a genetic
explanation for group differences in a
complex behavioral trait, where
environmental and social factors
clearly can and do play major roles
[24,25].
SSttaatteemmeenntt 66:: WWee eennccoouurraaggee aallll rreesseeaarrcchheerrss wwhhoo uussee rraacciiaall oorr eetthhnniicc ccaatteeggoorriieess ttoo ddeessccrriibbee hhooww iinnddiivviidduuaall ssaammpplleess aarree aassssiiggnneedd ccaatteeggoorryy llaabbeellss,, ttoo eexxppllaaiinn wwhhyy ssaammpplleess wwiitthh ssuucchh llaabbeellss wweerree iinncclluuddeedd iinn tthhee ssttuuddyy,, aanndd ttoo ssttaattee wwhheetthheerr tthhee rraacciiaall oorr eetthhnniicc ccaatteeggoorriieess aarree rreesseeaarrcchh vvaarriiaabblleess A first step towards preventing the
use of science for racial stereotyping
is careful consideration of the use of
racial and ethnic categories in the
initial design of research. Researchers
can assess the purpose and impact of
using racial and ethnic categories in
their research and investigate
whether alternative approaches
would be appropriate. The editorial
boards of several flagship scientific
journals have issued publication
guidelines to their authors on the use
of ‘race’ in reporting research
findings [26,27].
SSttaatteemmeenntt 77:: WWee ddiissccoouurraaggee tthhee uussee ooff rraaccee aass aa pprrooxxyy ffoorr bbiioollooggiiccaall ssiimmiillaarriittyy aanndd ssuuppppoorrtt eeffffoorrttss ttoo mmiinniimmiizzee tthhee uussee ooff tthhee ccaatteeggoorriieess ooff rraaccee aanndd eetthhnniicciittyy iinn cclliinniiccaall mmeeddiicciinnee,, mmaaiinnttaaiinniinngg ffooccuuss oonn tthhee iinnddiivviidduuaall rraatthheerr tthhaann tthhee ggrroouupp Although a broad range of associations
between genetic markers and human
traits - including diseases - is emerging,
any accompanying correspondence
with race or ethnicity is statistical.
Although certain relatively rare genetic
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Genome BBiioollooggyy 2008, 99::404
diseases, such as Tay-Sachs, are found
in higher frequencies in some human
populations, the result of population
bottlenecks or environmental pressure,
these diseases are also found in other
populations. Overemphasizing the
genetic contribution to complex human
disease or behavioral traits can
promote not only racism, but also a
naive genetic essentialism - the notion
that genes determine health status or
behavior [28-30]. Such essentialism is
particularly dangerous in clinical
translation, where a focus should be
maintained on the individual rather
than the group [31].
SSttaatteemmeenntt 88:: WWee eennccoouurraaggee tthhee ffuunnddiinngg ooff iinntteerrddiisscciipplliinnaarryy ssttuuddyy ooff hhuummaann ggeenneettiicc vvaarriiaattiioonn tthhaatt iinncclluuddeess aa bbrrooaadd rraannggee ooff eexxppeerrttss iinn tthhee ssoocciiaall sscciieenncceess,, hhuummaanniittiieess aanndd nnaattuurraall sscciieenncceess Common human behaviors and
diseases result from the interaction of
genetic, cultural, linguistic, economic,
social and behavioral factors; genetic
differences underlying behavioral or
health status differences between
groups are especially difficult to
identify [32]. Medical research is
most likely to be successful when
genetic studies proceed in tandem
with studies of environmental and
behavioral factors that include
geneticists, epidemiologists and
social scientists as members of the
research team.
SSttaatteemmeenntt 99:: WWee uurrggee rreesseeaarrcchheerrss,, tthhoossee wwoorrkkiinngg iinn mmeeddiiaa,, aanndd ootthheerrss eennggaaggeedd iinn tthhee ttrraannssllaattiioonn ooff rreesseeaarrcchh rreessuullttss ttoo ccoollllaabboorraattee oonn eeffffoorrttss ttoo aavvooiidd oovveerrssttaatteemmeenntt ooff tthhee ccoonnttrriibbuuttiioonn ooff ggeenneettiicc vvaarriiaattiioonn ttoo pphheennoottyyppiicc vvaarriiaattiioonn Scientific data are often quickly
politicized and incorporated into
specific policy agendas without
extensive explanation of the scientific
research and its details [33-35]. Often
lost in the announcement of scientific
findings is discussion of the
limitations of the research. Our hope
is that scientific data about human
genetic variation might undermine
spurious popular beliefs about the
existence of biologically distinct
human races and beliefs that support
racist ideologies.
SSttaatteemmeenntt 1100:: WWee rreeccoommmmeenndd tthhaatt tthhee tteeaacchhiinngg ooff ggeenneettiiccss iinncclluuddee hhiissttoorriiccaall aanndd ssoocciiaall sscciieennttiiffiicc iinnffoorrmmaattiioonn oonn ppaasstt uusseess ooff sscciieennccee ttoo pprroommoottee rraacciissmm aass wweellll aass tthhee ppootteennttiiaall iimmppaacctt ooff ffuuttuurree ppoolliicciieess;; wwee eennccoouurraaggee iinnccrreeaasseedd ffuunnddiinngg ffoorr tthhee ddeevveellooppmmeenntt ooff ssuucchh tteeaacchhiinngg mmaatteerriiaallss aanndd pprrooggrraammss ffoorr sseeccoonnddaarryy aanndd uunnddeerrggrraadduuaattee eedduuccaattiioonn Education is critical in providing both
the foundation - basic scientific literacy -
and the historical context through
which to understand human genetic
variation as data from studies are
released. We believe that expanded
public education at all levels will
enhance understanding of human
genetic variation and interpretation of
any correspondence with categories of
race and ethnicity. We recommend that
the teaching of genetics include what
we recognize today as past uses of
science in promoting racism. Finally,
we encourage increased funding for the
development of such teaching materials
and educational programs that focus on
the social impact of scientific discoveries
as well as the impact of social values and
beliefs on the conduct of science.
IInn ccoonncclluussiioonn The ‘gene’ remains a powerful icon in
the public imagination and is often
misunderstood as deterministic and
immutable. Furthermore, history
reminds us that science may easily be
used to justify racial stereotypes and
racist policies. Our discussion at
Stanford University resulted in part
from a desire to try to minimize the
chances that scientific research inad-
vertently contributes either to inequi-
ties between groups or to the abuse of
human rights. Disagreements did arise
during these discussions. For example,
biomedical scientists tended to accept
that such labels could be used as
neutral descriptors of groups of indivi-
duals, whereas scholars in the social
sciences and humanities tended to
question whether such labels could be
stripped of embedded sociohistorical
meaning. However, dialog and the
discovery of language that worked
across disciplinary boundaries enabled
us to clarify our perspectives and find
many points of agreement. This work-
shop statement constitutes one step in
an ongoing, open dialog that takes into
account the potential for misinterpre-
tation or misuse of research in human
genetic variation. More specifically, this
statement looks to shape future use of
categories of race and ethnicity in
biomedical research.
AAcckknnoowwlleeddggeemmeennttss We would like to acknowledge the tremen- dous intellectual contribution of George Fredrickson, late Professor Emeritus of History at Stanford University, to the creation of this statement. His life-long commitment to the study of racism was critical to the work- shop discussion and our understanding of processes of racialization over time. Joanna Mountain and Barbara A Koenig were faculty members at Stanford University during the course of this dialog and were co-organizers of the initial workshop. This work was supported by the National Institutes of Health (career development award K01 HL72465 to SL).
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http://genomebiology.com/2008/9/7/404 Genome BBiioollooggyy 2008, Volume 9, Issue 7, Article 404 Lee et al. 404.4
Genome BBiioollooggyy 2008, 99::404
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