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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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