24 Gene-Environment Interaction and Medical

Sara Shostak, Brandeis University Jeremy Freese, Northwestern University

Th e boundaries between sociology and biology causation, including the “looping eff ects” (Hack- have long been sites of tension and contestation ing 1995) of genetic categories and the enduring (Anderson 1967; Pescosolido 2006).1 In part, infl uence of fundamental causes of and ill- these contestations emerge from a concern that ness, especially as capacities for intervention biological accounts of the production of human change (Link and Phelan 1995; Freese and Lut- diff erence pose a threat to sociology’s defi ning fey, forthcoming). focus on social and environmental causes of hu- man health and social outcomes (Duster 2006). Medical sociologists have been at the vanguard of Genes, Environments, and Health eff orts to fi nd productive modes of engagement between the social sciences and contemporary At the turn of the century, gene-environment in- human genetics. Increasingly, these eff orts center teraction emerged at the center of research funded on gene-environment interaction. We consider here by the National Institutes of Health (NIH) two domains of social scientifi c inquiry that ad- (Schwartz and Collins 2007), as well as in the hu- dress gene-environment interaction vis-à-vis health man sciences more broadly (Rutter, Moffi tt, and and illness. First, we discuss analyses of the social Caspi 2006).2 As just one mea sure of its currency implications of research on gene-environment in- at the NIH, in 2006, health and teraction, including studies of public understand- secretary Mike Leavitt announced that the presi- ings and beliefs about genetic and environmental dent’s budget proposal for fi scal year 2007 would causes of health and social outcomes. Second, we include $68 million for the Genes and Environ- consider research that uses information about ment Initiative, an NIH research eff ort to combine genetics and gene-environment interaction as a genetic analysis and environmental technology de- lever to reveal mechanisms of social and social velopment to understand how gene-environment psychological causation of health and illness. interactions contribute to the etiology of common Taken together, this work points to the impor- .3 Th e prominent of the concept of tance of moving past the assumption of an essen- gene-environment interaction in this initiative was tial tension between genetic and social (or other highlighted in the press release that announced it: environmental) explanations for health and ill- “Diff erences in our genetic makeup certainly infl u- ness toward more integrative analyses that can ence our risks of developing various illnesses. . . . encompass multiple and simultaneous forms of We only have to look at family medical histories

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 418418 66/11/10/11/10 11:44:2111:44:21 AMAM to know that is true. But whether a genetic predis- of development and of and has turned position actually makes a person sick depends on only recently to studies of gene-environment in- the interaction between genes and the environment” teraction. As knowledge claims diff use beyond (NIEHS 2006 [emphasis added]). the laboratory, they may serve as warrants for In the United Kingdom, the UK Biobank individual and and transform represents a massive investment on the part of the social policies and . Medical sociol- Medical Research Council, the Wellcome Trust, ogy off ers at least three important vantage points and the Department of Health, with the goal of on the social implications of genetic research— elucidating “the complex interplay of genetic and geneticization, biosociality, and public under- environmental factors involved in the aetiology standing of genetics. of common diseases” (Tutton, Kaye, and Hoeyer 2004, 284). Gene-environment interaction is also of great interest in the private sector. In the Geneticization United States, the GEI is to be “accelerated” by the eff orts of a public-private partnership, the Ge- As introduced by Lippman (1991, 19), genetici- netic Association Information Network (GAIN), zation refers to “an ongoing process by which dif- a joint venture between the NIH, Pfi zer Pharma- ferences between individuals are reduced to their ceuticals, and the biotech company Aff ymetrix. DNA codes, with most disorders, behaviours, Social scientists also increasingly are taking up and physiological variations defi ned, at least in questions about gene-environment interaction. part, as genetic in origin.” Geneticization is both Indeed, one of the ironies of the success of the “a way of thinking” about human diff erences, es- Human Genome Project is that it highlights the pecially in the context of health and illness, and imperative for sophisticated conceptualizations also “a way of doing,” as genetic technologies are and measures of the social environment, long the “applied to diagnose, treat, and categorize condi- jurisdiction of sociology (Pescosolido 2006; Per- tions previously identifi ed in other ways” (Lipp- rin and Lee 2007). While not explicitly focused man 1998). Like many words that end in -tion, on gene-environment interaction, the recent call geneticization refers simultaneously to a social for a “sociology of disease,” which would incor- process and to its results (Hacking 1999, 36). porate biomarkers into studies of the experience Much as with “” (Conrad of trajectories of illness, likewise points to the 1992), there has been disagreement over whether need for knowledge about the intersections of the concept of geneticization is primarily “a heu- social and biological pathways (Timmermans ristic tool” in a moral debate (ten Have 2001) or and Haas 2008). With the inclusion of DNA maintains suffi cient neutrality to serve empirical and biomarker data in large-scale research (Hedgecoe 1998).4 Writing on genetici- data sets (Weinstein, Vaupel, and Wachter 2008; zation often centers on a number of interlocking Finch, Vaupel, and Kinsella 2000), the opportu- concerns about genetics as a “dominant ” nities for sociologists to study gene-environment (Lippman 1991, 18) with myriad potential nega- interaction will proliferate rapidly in the coming tive social implications. Th ese concerns include years. Likewise, sociologists already have given genetic reductionism, in which a complex under- consideration to social implications of gene- standing of the causes of human development is environment interaction, pointing to many con- displaced by one in which genes are perceived as cerns and opportunities for the years ahead. the “true cause” of diff erence (Sloan 2000, 17); genetic determinism, in which genes are taken as inevitably implying traits and behaviors (Lipp- Social Implications of Research on man 1992; Nelkin and Lindee 2004; Rothman Gene-Environment Interaction 2001); genetic essentialism, in which genetics be- comes a dominant way to talk about fundamental Human genetics has been centrally concerned life issues such as “guilt and responsibility, power with understanding how genes work as causes and privilege, intellectual or emotional status”

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 419419 66/11/10/11/10 11:44:2211:44:22 AMAM (Nelkin and Lindee 2004, 16); and genetic fatal- further complexity, how scientists in either line of ism, the belief that if a trait or behavior has a ge- research defi ne “the environment” varies widely netic etiology, then it is fi xed and unchangeable and may include the interior of a cell (as the en- (Alper and Beckwith 1993).5 vironment of DNA) and the interior of a human In the context of health and illness, sociolo- body (as the environment of cells, organs, and gists have been especially concerned about the organ systems), as well as the ambient environ- possibility that such dynamics will contribute ment (air, water, and soil) and the social environ- to the individualization of health and illness, ment (Shostak 2003). Th e complexities involved with social, political, and economic etiological in defi ning, operationalizing, and measuring en- explanations relegated to secondary status or dis- vironmental infl uences on health may enhance credited altogether (Conrad 1999; Duster 2003, “the allure of specifi city” of genetic explanations 2006; Hedgecoe 2001; Lippman 1991; Roth- (Conrad 1999).6 Further, Hedgecoe (2001) de- man 2001). Duster (2003) argues that extensive scribes a “narrative of enlightened geneticization” public sector investment in genetic research will which accepts a role for environmental factors in disproportionately and negatively impact blacks disease etiology, while consistently prioritizing by diverting attention and resources away from genetic causes, Such narratives of “enlightened social environmental factors that contribute to geneticization” appear to be replicated in popular increasing rates of lung cancer and cardiovascular media coverage of research on gene-environment disease in the African American population (see interaction, which selectively emphasizes genetic also Chaufan 2007). Related, social scientists have infl uences, while largely ignoring environmental been leading critics of the potential of genetic in- causes (Horwitz 2005). Th is is concordant with formation to reify social categories such as race, the tendency toward “genetic optimism” which especially in the context of biomedical research characterizes the reporting of genetics research, (Duster 2005; Lee, Mountain, and Koenig 2001; especially in the United States (Conrad 2001).7 Ossorio and Duster 2005). Recent work has con- At the same time, there is evidence that the sidered also whether geneticization will result in social environment shapes understandings and increased stigmatization of people aff ected by uses of genetic information. Ethnographic and mental illness or their relatives (Phelan 2005). cross-national investigations have found that lo- Th e consequences of scientists’ emerg- cal knowledge (Rapp 1999), national contexts ing focus on gene-environment interaction for (Parthasarathy 2007; Prainsack and Siegal 2006; geneticiza tion remains contingent upon how Remennick 2006), and everyday understandings gene-environment interaction is conceptualized of risk, kinship, and inheritance (Gibbon 2007; (Shostak 2003) and materialized in the lab (Hall Richards and Ponder 1996) shape how people 2005; Landecker, n.d.), articulated in biomedical understand and make use of genetic informa- texts (Hedgecoe 2001) and practices (Cunning- tion in daily life. Indeed, even in the context of ham-Burley and Kerr 1999), and reported to the prenatal genetics, arguably the clinical setting public (Horwitz 2005). At each of these sites, where genetic testing is most standardized and research highlights the multiplicity (Mol 2002) routinized, social factors shape both the use of of the concept of gene-environment interaction genetic technologies and the interpretation of test and, concomitantly, the challenges of predicting results (Franklin and Roberts 2006; Lock et al. its implications. For example, Shostak (2003) 2006; Markens, Browner, and Press 1999; Rapp demonstrates that in the 1999; Whitmarsh et al. 2007). Social scientists sciences, gene-environment interaction histori- have highlighted also how the daily practices of cally has been the focus of two very diff erent lines diagnosis and disease management may mitigate of inquiry, one focused on how individual genetic geneticization, even for conditions with simple susceptibilities predispose individuals to illness genetic etiologies such as hereditary polycystic under specifi c environmental conditions, and kidney disease, a life-threatening, autosomal the other focused on how environmental condi- dominant trait for which genetic testing is avail- tions aff ect genes and gene expression. Adding able (Cox and Starzomski 2004). More broadly,

420 Handbook of Medical Sociology

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 420420 66/11/10/11/10 11:44:2211:44:22 AMAM existing discourse, public opinion, and or ga ni za- not by traditional subject positions, but rather as tional arrangements may strongly condition the sites defi ned by their relation to means, norms, potential consequences of fi ndings of genetic in- and other mea sures of probabilistic risks (100).8 fl uence (Shostak, Conrad, and Horwitz 2008). Th ese new identities are expected to serve as Th e expanding focus of the life sciences on the basis for innovative forms of social orga ni- complex biological systems (Fujimura 2005; Ki- za tion and interaction, as biosocial groups “will tano 2002) and epigenetics (Feinberg 2008) can have medical specialists, laboratories, narratives, be expected to continue to challenge how social traditions, and a heavy panoply of pastoral keep- scientists think about gene-environment interac- ers to help them experience, share, intervene in tion and its social implications. Broadly speaking, and ‘understand’ their fate” (Rabinow 1996, 102). epigenetics highlights processes by which cellular Groups of persons at risk for illness or their fam- environments can modify genetic expression. Th e ily members and allies are reshaping and reorient- key insight of epigenetics is that gene expres- ing orga ni za tion and advocacy sion can be altered by environmental exposures, (Callon and Rabeharisoa 2003; Gibbon 2007), even without changes in the actual sequence of relationships between citizens and the state (Ep- DNA, and that these patterns of gene expression stein 2007; Heath, Rapp, and Taussig 2004; Pet- and regulation are heritable (Francis et al., 1999; ryna 2002), and modes of capital production and Meaney 2001). Th us, scientists are increasingly economies, which increasingly rely on innovative focused on how social and historical factors can be relationships between disease advocacy groups seen as interacting directly with DNA, although and scientists (Heath, Rapp, and Taussig 2004; how to operationalize such factors in laboratory Novas 2007, 2008; Silverman 2008; Sunder Ra- settings (Landecker, n.d.) and how to connect so- jan 2006). Research on biosociality focuses also cial science data to such biologically fi ne-grained on how genetics fosters the reworking of extant processes are major challenges. Meanwhile, the identities, especially race and ethnicity (Abu El- concept of biosociality raises questions about how Haj 2007; Atkinson, Glasner, and Greenslade genetic information may further blur boundaries 2007; Gibbon and Novas 2008; Hacking 2006; between categories such as nature and culture, Nelson 2008; Reardon 2004). genes and environments. In highlighting how genetic information enables new forms of human or ga ni za tion and , the concept of biosociality stands in Biosociality stark contrast to the assumption of genetic fatal- ism and calls attention to how individuals make In articulating the concept of “biosociality,” an- use of genetic information in specifi c environ- thropologist Paul Rabinow argued that advances ments. For example, Rose and colleagues (Novas in biological knowledge would yield new forms of and Rose 2000; Rose 2007) argue that genetic collective identity and an increasingly effi cacious information creates new obligations to act on orientation of individuals toward themselves as knowledge to protect health, maximize quality material entities. Consequently, “nature will be of life, and optimize life chances. In support of known and remade through technique and will this argument, and reminiscent of Parsons’s con- fi nally become artifi cial, just as culture becomes ceptualization of the sick role (1951), Condit and natural” (1996, 99). In addition, Rabinow pre- colleagues (2006) fi nd that while laypeople do dicted, a variety of microlevel political practices not hold individuals responsible for their genetic and embedding genetic information in endowments, they still expect individuals to work social life would make the new genetics a potent to override negative genetic predispositions to force in reshaping (98–99). In part, this is whatever extent they are able. Th us, at least with because the identifi cation of genetic risks simul- respect to health, the rise of genetic science need taneously will destabilize extant subjectivities and not be coterminous with feelings of hopelessness contribute to the emergence of new biosocial in- or ineffi cacy. Rather, genetic research has secured dividual and group identities, which are defi ned enormous public funding precisely due to hopes

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 421421 66/11/10/11/10 11:44:2211:44:22 AMAM that understanding genetic causation will lead to genetic testing for specifi c conditions. Such stud- the development of improved capacity for inter- ies were largely clinically oriented and tended to vention, as seen especially today in the hope that draw on highly selected nonprobability samples genetics will yield a new era of personalized medi- of individuals from families aff ected by illnesses cine (Novas 2007; Sunder Rajan 2006). with genetic etiology (e.g., Lafayette et al. 1999; Th us, biosociality highlights the role of social Lerman et al. 1994). While these studies provide relations in shaping social and material conse- important insights about how people in families quences of genetic variation. Indeed, for medi- aff ected by specifi c illnesses conceptualize genetic cal sociologists, a key insight of the literature on risk for those illnesses, they do not assess uses of biosociality is that genetic causation of health genetic attributions more broadly. and illness depends not just on the causality of Research on attitudes toward genetic testing genes or gene-environment interactions, but on also has been undertaken to assess racial/ethnic the causality associated with social action based diff erences in use of genetic testing. Th is research on scientifi c knowledge claims about genes. For indicates that African Americans and Latinos are example, increasingly, one response to diagnosis more eager than are whites to avail themselves of is to contribute to collective eff orts to increase both prenatal and adult genetic testing (Singer, and improve the scientifi c study of one’s illness; Antonucci, and Hoewyk 2004, 41). One might healthy individuals with genetic predispositions infer that endorsement of genetic testing refl ects now lobby the state to fund scientists to discover underlying beliefs about genes as causes for these knowledge that can be translated into new tech- traits. Importantly, however, the study questions nologies that will intervene to prevent their genes asserted the importance of genes for the disease from causing pathological consequences (Epstein outcome as a premise to the question, and therefore 1996; Novas 2007; Petryna 2002; Silverman this work does not speak directly to beliefs about 2008). Th is trend points to the importance of the importance of genes for individual health or research on how people understand genes and en- social outcomes (33). vironments as causes of health and illness. On the whole, surveys of representative samples of the U.S. population make plain that a strong majority of Americans regard genes as im- Public Understandings and Beliefs about portant determinants of health, illness, and other Genetics, Environments, Health, and Illness life outcomes. Over 90 percent of U.S. respon- dents report genetic makeup as at least somewhat Assessing public perceptions and opinions pro- important for physical illness, and almost two- vides an important means of understanding how thirds report the same for success in life (Shostak people interpret social problems such as health et al. 2009). Additionally, belief in the impor- inequalities, and how they respond to policy ini- tance of genetics for particular outcomes may tiatives regarding health and illness (Schnittker, be increasing. For example, in 1979, 36 percent Freese, and Powell 2000). Traditionally, public of respondents reported that heredity was more opinion research has investigated attributions for important than the environment in determining health and social outcomes by considering genet- whether or not a person was overweight, while in ics, environmental factors, and individual behav- 1995, 63 percent of respondents attributed “be- ior as inde pen dent causes. Innovation in this area ing substantially overweight” to genetics (Singer, is clearly warranted to explore public understand- Corning, and Lamias 1998, 637–38).9 Th at said, ings of gene-environment interaction and its im- it is unclear whether there has been any overall plications for health and social policy. shift toward belief in genetics, as widespread no- Of course, there are many groups within “the tions of the importance of “breeding,” “constitu- public” with varying interests and perspectives re- tion,” or “inborn character” predate the discovery garding the causes of health and illness. Much of of DNA (Kevles 1985). the early research on beliefs about genes as causes Additionally, people appear to believe that of health and illness focused on attitudes toward the causal importance of genetics varies for dif-

422 Handbook of Medical Sociology

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 422422 66/11/10/11/10 11:44:2211:44:22 AMAM ferent outcomes, in that the attribution of genetic ment, which could be seen as more important for infl uence does not rule out perception of the social outcomes (Condit et al. 2004). importance of other factors (Parrott, Silk, and While research has considered the possibility Condit 2003), including both the environment of various sorts of social cleavages in beliefs about and, especially, individual behavior (Condit et genes as causes of health and social outcomes, al. 2004, 260–61). For example, when asked to race/ethnic diff erences have received the most partition pie charts to represent the relative con- attention. Th is focus emerges in part from con- tribution of genes, the physical environment, the cerns about eugenics (Kevles 1985; Duster 2003) social environment, and personal action, partici- and the possibility that genetic information again pants assigned to “genes” 71 percent of etiologic could be used to reify racial classifi cations (Omi responsibility for height, 41 percent for weight, and Winant 1994; Duster 2005), undermine 54 percent for breast and prostate cancer, 26 per- progressive policies, and promote discriminatory cent for talent, and 40 percent for mental abilities programs (for reviews, see Condit and Bates (Parrott, Silk, and Condit 2003). Additionally, 2005; Condit et al. 2004). Refl ecting on such when asked to compare the role of genes and abuses, social scientists have hypothesized that individual behaviors in determining health out- the historical use of biological claims to justify ra- comes, generally people assigned a greater role to cial inequality will prompt minorities to be more personal behavior (Condit et al. 2004). Poll data skeptical of genetics. Using vignette data from similarly indicate that endorsement of genetics the General Social , Schnittker, Freese, and as an explanation for health and social outcomes Powell (2000, 1109, 1112) found that blacks are varies by the outcome of interest and, possibly, less likely than whites to endorse genetic expla- perceptions of individual responsibility for spe- nations of mental illness. In contrast, however, cifi c outcomes. For example, in a 1995 Harris Shostak and colleagues fi nd that blacks and Lati- poll (n = 1005), 90 percent of respondents at- nos rated genetic makeup on average as more im- tributed success in life to learning and experience portant for a set of individual attributes than did (vs. 8 percent to “genes you inherit”), while 63 whites. Black respondents were relatively more percent of respondents attributed being substan- averse than whites to endorsing genetic makeup tially overweight to genetics (vs. 32 percent who as important to individual diff erences in intelli- chose learning and experience) (Singer, Corning, gence—the outcome for which historical abuse and Lamias 1998). arguably has been most pervasive and invidious— What outcomes are regarded as “more ge- but that was the only instance in their analysis netic” may be infl uenced by a cultural schema, in which a socially disadvantaged group evinced at least in the United States, in which individual greater aversion to genetic explanation (Shostak characteristics perceived as closer to the body are et al. 2009). In an analysis of General Social Sur- seen as more strongly caused by genetics. A re- veys since 1990, Hunt (2007) found that blacks cent study of genetic attributions for individual were not less likely than whites to regard “innate outcomes found that physical health is perceived ability” as important to explaining black-white as more strongly genetically infl uenced than is diff erences in socioeconomic attainment (12.0 ; mental health is perceived as more percent of whites and 12.2 percent of blacks).10 strongly genetically infl uenced than is personality; Despite the conventional wisdom that per- and personality is seen as more strongly geneti- ceptions of the relative signifi cance of genes and cally infl uenced than is success in life (Shostak et environments as causes of health and illness will al. 2009). Such a cultural schema may refl ect the be consequential for health and social policy, legacy of Cartesian dualism, which insists that the only a very few studies consider the relationship causes of bodily states, such as physical illness, are between beliefs about genetic causes and specifi c to be located in the body (Scheper-Hughes and policy attitudes. Shostak and colleagues (2009) Lock 1987). In addition, many people have a fi nd that belief in the importance of genetics for strong notion of individual will as a causal force individual diff erences in outcomes are associated in de pen dent from either genetics or environ- with support for health policies predicated on

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 423423 66/11/10/11/10 11:44:2211:44:22 AMAM genetic causes being important, such as support- ferences may explain part of the observed racial ing human genetics research and genetic screen- disparities in health has been decried by some ing before marriage. Regarding beliefs in the who believe this delays attention to the obviously genetic basis of group diff erences, Jayaratne and fundamental role of socioeconomic diff erences, colleagues fi nd that belief in the genetic basis of unequal treatment in the health-care system, and racial diff erences is associated with more negative discrimination-related stressors (Sankar et al. attitudes toward blacks and less support for social 2004; Chaufan 2007). Sociological writing on policies to help blacks (Jayaratne et al. 2006; see the contingency and capriciousness of diagnostic also Keller 2005).11 In contrast, genetic attribu- processes may likewise be seen as contradictory to tions for diff erences in sexual orientation are asso- research attempting to document associations be- ciated with greater tolerance toward gay men and tween genetic diff erences and diagnoses (Brown lesbians, as mea sured by attitudes toward whether 1995; Zavestoski et al. 2004). gays should marry, whether gay couples should More recently, there has been stronger empha- adopt, and whether gay people should be allowed sis on constructive and integrative engagement to teach elementary school (Jayaratne et al. 2006; between genetics and social science (Pescosolido see also Tygart 2000). 2006). Th is has been exemplifi ed by the push We have much to learn about how people for including “biomarkers” in social science data make sense of theories and data about gene- resources (Singer and Ryff 2001; Finch, Vaupel, environment interaction. As the social sciences and Kinsella 2000; Timmermans and Haas 2008; increasingly are considering the relevance of Weinstein, Vaupel, and Wachter 2008). For those gene-environment interaction to outcomes of who study disease, of course, biological mea- longstanding sociological interest (Freese 2008), surement is already fundamental; if anything, it it is imperative that future research on public is remarkable how much and social beliefs and opinions about genetics include ques- science have accomplished with self-report sur- tions on this broadening range of outcomes and veys. In thinking about how biomarkers may be their associations with orientations to specifi c incorporated into , a key distinction health and social policies. Such policies will have needs to be drawn between mea sures of genotype a critical role in determining the consequences of and mea sures of cortisol, immune response, allo- knowledge about gene-environment interactions, static load, or other of what Freese, Li, and Wade as they shape the opportunities that people have (2003) call “proximate” biomarkers. Th e latter are both to make use of medical interventions and interesting to social scientists primarily for their treatments developed using this knowledge and role as mediating variables, that is, in elucidating to avoid identifi ed health risks (Link and Phelan the actual physiological process by which life cir- 1995; Lutfey and Freese 2005). cumstances get under the skin. Genotypic mea- sures, by contrast, are quintessential moderators. While epigenetics provides ways in which exter- Gene-Environment Interaction and nal processes can infl uence the cellular expression Social Causation of Health and Illness of genes, the genotype itself is not infl uenced by life circumstances, even though the two interact As noted previously, social environmental con- in the production of health and other phenotypic ditions have historically often been interpreted outcomes. as competing with genetics in the explanation Although discourse about genetic causes in of disease. Th e notion that lung cancers were much of social science is heavily freighted by a invariably genetically determined—and so any false moral equation of genetics with inevitabil- relationship between smoking and lung cancer ity, this is much less the case in health research, had to refl ect a common genetic cause—was the which has always been premised on the pos- main alternative used to justify doubt that smok- sibility of salutary manipulation of the body. A ing causes cancer (Brandt 2007). Today, funding favorite example for illustrating the pervasive in- for research into the possibility that genetic dif- terpenetration of genes and environments in dis-

424 Handbook of Medical Sociology

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 424424 66/11/10/11/10 11:44:2211:44:22 AMAM ease etiology is phenylketonuria (PKU). Classic to be the key barriers for utilizing innovations PKU is caused by an autosomal recessive genetic from genetics research remains largely unknown, variant on chromosome 12, and those with PKU although a strong lesson from the existing litera- lack an enzyme needed to break down the amino ture on health disparities would be not to exag- acid phenylalanine. Consequently, phenylalanine gerate the importance of fi nancial resources per se accumulates in tissue and causes progressive, ir- (Mirowsky and Ross 2003; Cutler, Deaton, and reversible cognitive impairments, among other Lleras-Muney 2006). problems. PKU is thus a genetically determined Another example of the fundamental inter- disease for which severe negative health outcomes action between genetics and social environment were once inevitable. For decades, it has been in disease is provided by diabetes. Diabetes is known that if someone with PKU adheres to a commonly divided into Types 1 and 2, with the diet low in phenylalanine, the accumulation can former characterized by inability to produce in- be avoided and the negative consequences of the sulin and the latter by relative defi ciency or in- condition can be minimized. In other words, sulin re sis tance. Onset for Type 1 is typically in PKU is a genetically determined condition whose childhood, while onset of Type 2 is typically in consequences medical science has transformed to adulthood and appears strongly linked to obesity. being largely environmentally determined. Rates of obesity have increased dramatically in re- At the same time, MacDonald et al. (2008) cent decades, and of course this change cannot be fi nd that, for children with PKU, lower maternal attributed to underlying genetic changes in the education is associated with higher child blood population; it is rightly characterized as a social phenylalanine, apparently as a result of poorer (Christakis and Fowler 2007; Martin adherence to a low phenylalanine diet (see also 2008). At the same time, obesity is strongly heri- Russell, Mills, and Zucconi 1988). Consequently, table, with genetic diff erences implicated in level while no one regrets our being able to treat PKU, of caloric intake, physical activity, and the weight this knowledge may have created an education- change of those with similar caloric intake and related disparity where none existed before. As activity (Faith and Kral 2006). Consequently, science increases the possible leverage that hu- concordance of identical twins for diabetes in mans have over their genes, socioeconomic factors U.S. society is higher for Type 2 diabetes than for may become relevant for understanding variation Type 1 (Dean and McEntyre 2004). In in the utilization of knowledge, technology, and where obesity is rare, Type 2 diabetes is rare. Th e ultimately outcomes. environmental changes that have resulted in con- With PKU, a drug to reduce blood phe- temporary Western lifestyles have thereby created nylalanine levels was approved by the FDA in associations between genotypes and diabetes risk 2007 (sapropterin dihydrochloride; brand name that did not exist before. Kuvan). Nothing is yet known about the conse- Over many years, the elevated blood sugar quences of this treatment for socioeconomic dif- levels in diabetes lead to increased risk for a wide ferences in children’s blood phenylalanine levels. variety of vascular-related complications, and so Th inking abstractly, however, one can imagine the basic goal of diabetes treatment is typically that such an innovation might reduce inequali- to emulate normal blood sugar levels as closely ties if it reduces the importance of dietary adher- as possible. Using ethnographic data, Lutfey and ence and is widely utilized. On the other hand, Freese (2005) compare two diabetes clinics serv- it could increase inequalities if it is utilized pri- ing very diff erent SES populations and are able marily by advantaged individuals who are already to articulate an array of possible reasons why most likely to have good adherence. Medical in- lower SES diabetes patients may have more dif- novations that increase may fi culty maintaining normal glucose levels. Oth- increase or decrease disparities as they do so; what ers have suggested that psychological traits like consequence innovations do have depends on cognitive ability and conscientiousness also may the technology they supercede and on the barri- be important for managing chronic conditions ers to utilizing the innovation. What will prove with sustained and complex treatment regimens

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 425425 66/11/10/11/10 11:44:2211:44:22 AMAM (Goldman and Smith 2002). While few would netic infl uence when none existed (see detailed dispute the importance of environments for arguments in Kendler and Prescott 2006; Rutter understanding variation in either cognitive abil- 2006). ity or conscientiousness, behavioral genetics has Studies of variation in estimated heritability produced strong evidence that genetic diff erences across diff erent populations—or in the same popu- are infl uential as well (Plomin and Caspi 1999; lation at diff erent times—can be used to provide Plomin and Spinath 2002). If so, then as disease broad information about gene-environment inte- consequences become amenable to treatment ractions. Boardman (2009) fi nds that more ag- by personal management, one may see a shift gressive policies against cigarette use (e.g., higher whereby the importance of genes related to the taxes, stronger restrictions on advertising) are as- disease itself becomes less important for ultimate sociated with lower heritability of daily smoking consequences, but genes related to the psychol- but not lower heritability of smoking onset. Given ogy of managing disease become more important evidence of the success of aggressive policies in (Freese 2006). In other words, the relevance of reducing onset overall, Boardman interprets this genetics for medical outcomes is not restricted result as suggesting that existing antismoking to genetic eff ects on physiological processes, and, policies may be most eff ective for those whose when disease risk and treatment depends strongly smoking initiation is least associated with under- on individual behavior, understanding genetic lying genetic causes. As a diff erent example, Guo diff erences in behavioral tendencies may be a vi- and Stearns (2002) fi nd that the heritability of tal part of developing interventions. adolescent vocabulary score is higher in families Th e conventional way of determining the with higher income (see also Turkheimer et al. overall contribution of genetic variation to popu- 2003). Because genetic diff erences apparently lation variation in a phenotypic characteristic has matter more in wealthier families, Guo and been to compare pairs of individuals with known Stearns speculate that richer environments better genetic relatedness, especially monozygotic twins allow children to develop their diff ering genetic (MZ; identical) and dizygotic twins (DZ; frater- potential (cf. Perrin and Lee 2007). nal). Given certain assumptions, the higher corre- While such fi ndings are intriguing, compar- lation of MZ twins is taken as evidence of genetic ing heritability estimates across groups is a rough infl uence, with the estimated magnitude of ge- tool for studying how genes moderate the eff ects netic infl uence increasing as the diff erence in cor- of environments. Even when model assumptions relations increases (see Schaff ner 2006 a, b for an are met, heritability estimates still measure only especially lucid overview). When genes and envi- the proportion of overall variation resolved by ge- ronments interact, saying that some percentage of netic variability. Groups may diff er in the herita- the outcome “is genetic” loses coherence, and her- bility of an outcome because of diff erences in the itability estimates seem instead best interpreted as eff ects of genes, but also because of diff erences in an imperfect but informative indicator of genetic the overall level of genetic variation, environmen- infl uence. In this respect, substantial heritability tal variation, or variation in measurement error. estimates have been observed not only for a wide In the Guo and Stearns (2007) study, for ex- range of health and psychological mea sures, but ample, the diff erence in heritability between the also for items of such longstanding sociological highest and lowest income groups was less than interest as educational attainment, earnings, di- 0.1, and the heritability diff erences between the vorce, and voting (Behrman et al. 1980; McGue highest and lowest education groups were nearly and Lykken 1992; Fowler, Baker, and Dawes this large in the opposite direction. In the end, 2008). To be sure, criticism of twin studies exists, the conclusions to be drawn from such indirect including debate among sociologists (Horwitz methods about the interaction of genes and social et al. 2003; Freese and Powell 2003). However, environments are likely quite limited. many have concluded that there is no evidence of For this reason, more enthusiasm currently problems severe enough that twin studies would surrounds the direct utilization of molecular ge- pervasively produce evidence of substantial ge- netic mea sures for studying gene-environment

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 426426 66/11/10/11/10 11:44:2211:44:22 AMAM interactions. Th e remarkably rapid drop in the then use genotypic information as an instrumen- cost of these measures has accelerated the eff ort tal variable to disentangle the causal eff ect of the to integrate them into existing social science data genetically infl uenced health condition on socio- resources. To give one concrete example, in 2006 economic outcomes from the eff ect of socioeco- the Wisconsin Longitudinal Study planned an nomic outcomes on health (Ding et al. 2009; see initiative to assay 4,500 cases for variants of a also Ebrahim and Davey Smith 2008). To cite an single gene (APOE) associated with Alzheimer’s analogous example, a genetic variant that infl u- disease (Bertram and Tanzi 2008). Two years ences levels of c-reactive protein in blood was later, after all data were collected and the salivary used to examine direction of causality issues in the samples were prepared to be submitted for assay- association between c-reactive protein and insulin ing, the initiative had grown to include 6,800 re sis tance (Lawlor et al. 2008). Roughly, because participants and variants of more than ninety dif- any infl uence of insulin re sis tance on c-reactive ferent single nucleotide polymorphisms (SNPs), protein does not change the gene, any association and yet the estimated overall cost of assaying between the gene and insulin re sis tance can in- had declined slightly.12 Sociologists interested in stead be attributed to the infl uence of c-reactive health will have vastly greater opportunities to in- protein on insulin resis tance. Using full siblings corporate molecular genetic data into their work. who diff er on the genes in question makes this an As an example of a study of gene-environment even stronger possible research design by elimi- interaction led by a medical sociologist, Pesco- nating the possibility of confounding the correla- solido and colleagues (2008) found support for tions among parent genes, child genes, and family their hypothesis that the association between environment (Fletcher and Lehrer 2008). a variant of the gene GABRA2 and being diag- While molecular genetic data thus provides nosed with alcoholism may be highest for indi- immense and exciting scientifi c opportunity for viduals from disadvantaged backgrounds or low medical sociologists, the importance of caution in social support. Th eir results highlight the pos- interpreting fi ndings prior to replication must be sibility that molecular genetic data may contrib- emphasized. Th e extent of replication failure in ute to understanding the wide variation in the medical genetics has been a source of regular la- physical and mental health consequences of social ment (Ahsan and Rundle 2003; Taioli and Garte adversity. Shanahan and colleagues (2008) have 2002). Th e particular reasons for such failures are argued also that sociologists should be leaders many, but important among them is that having in exploring how gene-environment interaction a large number of genetic mea sures and a large may require methods for assessing complex con- number of environmental measures yields a very fi gurations of environmental characteristics (and, large number of potential interactions that can for that matter, confi gurations of genes). In other be analyzed, especially when those analyses can words, the consequences of genetic diff erences be carried out for diff erent subgroups and diff er- may be suppressed or accentuated less by particu- ent outcomes. While methods of correcting for lar environmental conditions than by the pres- multiple signifi cance tests exist, the number of ence of multiple conditions that together provide tests underlying a presented result can be diffi cult special contexts of vulnerability or resilience. for researchers to determine (and impossible for Molecular genetic data may also be used to reviewers). provide some leverage into famously diffi cult Given that statistical interactions are already no- causal questions in social science research on torious for replication problems when genes are not health. In particular, as more becomes known involved, reported gene-environment interactions about genetic determinants of health conditions, should perhaps be approached even more gingerly possibilities increase for being able to infer that than should reported main eff ects of genetic dif- the only reason some genetic variant would be ferences (Rutter 2006). Worse, many social science associated with a social outcome like education data resources are eff ectively unique with respect to and earnings is indirectly, via the eff ect of the ge- some questions they can be used to address, making netic variant on health. In such a case, one could direct replication across samples far more diffi cult

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 427427 66/11/10/11/10 11:44:2211:44:22 AMAM than in many medical studies. Moffi tt, Caspi, and 2. A key word search using “gene-environment Rutter (2005) provide an especially lucid guide to interaction” in PubMed generates 28 articles on the the proper theoretical justifi cation motivating a topic published from 1974 to 1989, 18 from 1990 search for a gene-environment interaction, and they to 1995, 85 from 1995 to 2000, and 243 from 2001 to 2005. caution strongly against “overreacting” to one study 3. Th is represents a $40 million increase above the $28 in advance of replication. When evidence for gene- million already planned for these eff orts in the NIH environment interaction is appropriately adducted, budget, a signifi cant allocation in relative scarcity at researchers must also caution against unwarranted the NIH. privileging of the “genetic” side of the interaction, 4. An alternative analytic frame is provided in and indeed often diseases described in the scientifi c writing on “molecularization,” which refers literature as “complex genetic disorders” might just to the reorientation of the life sciences to the submicroscopic level (de Chadarevian and as easily be characterized as “complex environmen- 13 Kamminga 1998; Kay 1993). Some authors prefer tal disorders.” “molecularization” because it lacks the negative valence often associated with “geneticization” (Hedgecoe 1998), while others use it to describe how Conclusions genes and environments both are increasingly known and governed at the molecular level (Shostak 2005). A longstanding strength of medical sociology 5. For example, in an experimental investigation of the is its theoretical and methodological diversity. consequences of genetic information in a clinical context, participants presented with results for what Th us, it is no surprise to see medical sociolo- was called a “genetic” test for heart disease perceived gists at the forefront of widely varied approaches the disease to be less preventable than those assigned to the study of gene-environment interaction. to the unspecifi ed test condition (Senior, Marteau, Such eff orts include historical excavations of the and Weinman 2000). concept of gene-environment interaction, ethno- 6. Th is may occur even as scientists recognize that graphic studies of the operationalization of gene- “there is no one single fact of the matter about what environment interaction in specifi c laboratories, a gene is” (Keller 2001, 139) analyses of biomedical texts and newspaper re- 7. Th e frame of genetic optimism consists of three components: (1) a gene for the disorder exists; (2) porting, surveys of public beliefs and attitudes it will be found; and (3) this will be good (Conrad about genes and environments as causes of health 2001). and social outcomes, and new forms of sociologi- 8. Related, Clarke and colleagues use the concept cal research which directly incorporate genotypic of “technoscientifi c identities” to refer broadly data. Taken together, these inquiries underscore to identities based in biomedical science and the importance of understanding health and ill- technology, including genomics (Clarke et al. 2003, ness as shaped by genes in interaction with mul- 182–83). 9. Changes in the wording of the question and tiple environments—social, economic, physical, the structure of response options also may have biological. Genes and environments become em- contributed to this change (Singer, Corning, and bodied as health and illness in and through social Lamias 1998, 638). processes that are conditioned by dimensions of 10. Academic discussions of heritability regularly point (Bearman, Martin, and Shostak out that evidence of the importance of genetics for 2008). Research about gene-environment interac- explaining individual diff erences is not evidence tions provides medical sociologists with another of the importance of genetics for explaining group warrant—and another set of tools—for elucidat- diff erences (e.g., Schaff ner 2006a, b). To our knowledge, no published study has considered ing the complex causes of health and illness. how the same people respond to questions about individual and group diff erences in the same trait. Notes 11. Th e direction of causality here is unclear, and We thank Miranda Waggoner for providing research belief in genetic diff erences between oneself and assistance. an outgroup does not inevitably imply negative 1. Th is chapter draws on work that appeared originally attitudes. in Freese and Shostak (2009). 12. Th is information about the Wisconsin Longitudinal

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 428428 66/11/10/11/10 11:44:2211:44:22 AMAM Study was provided by personal communication with Christakis, Nicholas A., and James H. Fowler. 2007. Robert M. Hauser and Taissa S. Hauser, January “Th e Spread of Obesity in a Large 2009. over 32 Years.” New En gland Journal of 13. We thank Peter Conrad for this point. 357:370–79. Clarke, Adele E., Janet K. Shim, Laura Mamo, References Jennifer R. Fosket, and Jennifer Fishman. 2003. “Biomedicalization: Technoscientifi c Transformations Abu El-Haj, Nadia. 2007. “Th e Genetic Reinscription of of Health, Illness, and U.S. Biomedicine.” American Race.” Annual Review of Anthropology 36:283–300. Sociological Review 68:161–94. Ahsan, Hasan, and Andrew Rundle. 2003. “Measures of Condit, Celeste M. 1999. “How the Public Genotype vs. Gene Products: Promise and Pitfalls in Understands Genetics: Non-deterministic and Non- Cancer Prevention.” Carcinogenesis 24:1229–34. discriminatory Interpretations of the ‘Blueprint’ Alford, John, Carolyn Funk, and John R. Hibbing. Metaphor.” Public Understanding of Science 2005. “Are Political Orientations Genetically 8:169–80. Transmitted?” American Political Science Review Condit, Celeste M., and Benjamin R. Bates. 2005. “How 99:153–67. Lay People Respond to Messages about Genetics, Alper, Joseph S., and Jon Beckwith. 1993. “Genetic Health, and Race.” Clinical Genetics 68:97–105. Fatalism and Social Policy: Th e Implications of Condit, Celeste M., Nneka Ofulue, and Kristine M. Behavioral Genetics Research.” Yale Journal of Biology Sheedy. 1998. “Determinism and Mass-Media and Medicine 66:511–24. Portrayals of Genetics.” American Journal of Human Anderson, Robert G., III. 1967. “On Genetics and Genetics 62:979–84. Sociology (II).” American Sociological Review Condit, Celeste M., Roxanne L Parrott, Tina M. Harris, 32:997–99. John Lynch, and Tasha Dubriwy. 2004. “Th e Role Atkinson, Paul, Peter Glasner, and Helen Greenslade, of ‘Genetics’ in Popular Understandings of Race in eds. 2007. New Genetics, New Identities. London: the United States.” Public Understanding of Science Routledge. 13:249–72. Bearman, Peter, Molly Martin, and Sara Shostak, eds. Condit, Celeste M., Roxanne Parrott, and Tina M. 2008. Special issue on genetics and social structure. Harris. 2006. “Lay people and Behavioral Genetics.” American Journal of Sociology 114, suppl. 1:v-S316. In Wrestling with Behavioral Genetics: Science, Ethics, Behrman, Jere R., Zdenek Hrubec, Paul Taubman, and and Public Conversation, ed. Erik Parens, Audrey R. Terence J. Wales. 1980. Socioeconomic Success: A Chapman, and Nancy Press, 286–308. Baltimore: Study of the Eff ects of Genetic Endowments, Family Johns Hopkins University Press. Environment, and Schooling. New York: North- Conrad, Peter. 1992. “Medicalization and Social Holland. Control.” Annual Review of Sociology 18:209–32. Bertram, Lars, and Rudolph E. Tanzi. 2008. “Th irty ———. 1999. “A Mirage of Genes.” Sociology of Health Years of Alzheimer’s Disease Genetics: Th e and Illness 21:228–41. Implications of Systematic Meta-analyses.” Nature ———. 2001. “Genetic Optimism: Framing Genes and Reviews Neuroscience 9:768–78. Mental Illness in the News.” Culture, Medicine and Boardman, Jason. 2009. “State-Level Moderation of Psychiatry 25:225–47. Genetic Tendencies to Smoke.” American Journal of Cox, Susan M., and Rosalie C. Starzomski. 2004. 99:480–86. “Genes and Geneticization? Th e Social Construction Brandt, Allan. 2007. Th e Cigarette Century: Th e Rise and of Autosomal Dominant Polycystic Kidney Disease.” Fall of the Drug Th at Defi ned America. New York: New Genetics and Society 23:137–66. Basic Books. Cunningham-Burley, Sarah, and Anne Kerr. 1999. Brown, Phil. 1995. “Naming and Framing: Th e Social “Defi ning the ‘Social’: Toward an Understanding Construction of Diagnosis and Illness.” Journal of of Scientifi c and Medical Discourses on the Social Health and Social Behavior, suppl. 1:34–52. Aspects of the New Human Genetics.” Sociology of Callon, Michel, and Vololona Rabeharisoa. 2003. Health and Illness 21:647–68. “Research ‘in the Wild’ and the Shaping of New Cutler, David M., Angus Deaton, and Adriana Lleras- Social Identities.” Technology in Society 25:193–204. Muney. 2006. “Th e Determinants of Mortality.” Chaufan, Claudia. 2007. “How Much Can a Large Journal of Economic Perspectives 20:97–120. Population Study on Genes, Environments, Th eir Dean, Laura, and Johanna McEntyre. 2004. Th e Genetic Interactions and Common Diseases Contribute to Landscape of Diabetes. Bethesda, Md.: National the Health of the American People?” Social Science Center for Biotechnology Information. and Medicine 65:1730–41. de Chadarevian, Soraya, and Harmke Kamminga, eds.

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 429429 66/11/10/11/10 11:44:2211:44:22 AMAM 1998. Molecularizing Biology and Medicine: New Fletcher, Jason M., and Steven F. Lehrer. 2009. Practices and Alliances, 1910s–1970s. Amsterdam: “Using Genetic Lotteries within Families to Harwood Academic. Examine the Causal Impact of Poor Health on Ding, Weili, Steven F. Lehrer, J. Niels Rosenquist, and Academic Achievement.” National Bureau of Janet Audrain-McGovern. 2009. “Th e Impact Economic Research Working Paper. ssrn.com/ of Poor Health on Academic Performance: New abstract=1434663. Evidence Using Genetic Markers.” Journal of Health Fowler, James H., Laura A. Baker, and Christopher Economics 28:578–97. T. Dawes. 2008. “Genetic Variation in Political Duster, Troy. 2003. Backdoor to Eugenics. 2nd ed. New Participation.” American Political Science Review York: Routledge. 102:233–48. ———. 2005. “Race and Reifi cation in Science.” Science Francis, Darlene, Josie Diorio, Dong Liu, Michael J. 307:1050–51. Meaney. 1999. “Nongenomic Transmission across ———. 2006. “Comparative Perspectives and Generations of Maternal Behavior and Stress Competing Explanations: Taking on the Newly Responses in the Rat.” Science 286:1155–58. Confi gured Reductionist Challenge to Sociology.” Franklin, Sarah, and Celia Roberts. 2006. Born and American Sociological Review 71:1–15. Made: An of Preimplantation Genetic Ebrahim, Shah, and George Davey Smith. 2008. Diagnosis. Princeton, N.J.: Princeton University “Mendelian Randomization: Can Genetic Press. Epidemiology Help Redress the Failures of Freese, Jeremy. 2006. “Th e and Observational Epidemiology?” Human Genetics the Social Complexities of Genetic Causation.” 123:15–33. International Journal of Epidemiology 35:534–36. Epstein, Steven. 1996. Impure Science: AIDS, Activism ———. 2008. “Genetics and the Social Science and the of Knowledge. Berkeley: University of Explanation of Individual Outcomes.” American Cal i fornia Press. Journal of Sociology 114, suppl. 1: S1–35. ———. 2007. Inclusion: Th e Politics of Diff erence in Freese, Jeremy, Jui-Chung Allen Li, and Lisa D. Wade. Medical Research. Chicago: University of Chicago 2003. “Th e Potential Relevances of Biology to Social Press. Inquiry.” Annual Review of Sociology 29:233–56. Faith, Myles S., and Tanja V. E. Kral. 2006. “Social Freese, Jeremy, and Karen Lutfey. Forthcoming. Environmental and Genetic Infl uences on Obesity “Fundamental Causality: Challenges of an and Obesity-Promoting Behaviors: Fostering Animating Concept in Medical Sociology.” Research Integration.” In Genes, Behavior, and the Handbook of the Sociology of Health, Illness, and Social Environment, ed. Lyla M. Hernandez and Dan Healing, ed. Bernice Pescosolido, Jack K. Martin, G. Blazer, 236–80. Washington, D.C.: National Jane McLeod, and Anne Rogers. New York: Springer. Academies Press. Freese, Jeremy, and Brian Powell. 2003. “Tilting at Farrer, Lindsay A., Adrienne Cupples, Jonathan L. Twindmills: Rethinking Sociological Responses to Haines, Bradley Hyman, Walter A. Kukull, Richard Behavioral Genetics.” Journal of Health and Social Mayeux, Richard H. Myers, Margaret A. Pericak- Behavior 44:130–35. Vance, Neil Risch, and Cornelia M. van Duijn. Freese, Jeremy, and Sara Shostak. 2009. “Genetics 1997. “Eff ect of Age, Sex and Ethnicity on the and Social Inquiry.” Annual Review of Sociology Association between Apolipoprotein E Genotype 35:107–28. and Alzheimer’s Disease: A Meta-analysis.” ApoE Fujimura, Joan H. 2005. “Postgenomic Futures: and Alzheimer’s Disease Meta-Analysis Consortium. Translations across the Machine-Nature Border Journal of the American Medical Association in Systems Biology.” New Genetics and Society 278:1349–56. 24:195–226. Feero, W. Gregory, Alan E. Guttmacher, and Francis Gibbon, Sahra. 2007. Breast Cancer Genes and the S. Collins. 2008. “Th e Genome Gets Personal— Gendering of Knowledge: Science and Citizenship Almost.” Journal of the American Medical Association in the Cultural Context of the “New” Genetics. 299:1351–52. Basingstoke, Eng.: Palgrave Macmillan. Feinberg, Andrew P. 2008. “Epigenetics at the Epicenter Gibbon, Sahra, and Carlos Novas. 2008. Biosocialities, of Modern Medicine.” Journal of the American Genetics, and the Social Sciences: Making Biologies and Medical Association 299:1345–50. Identities. London: Routledge. Finch, Caleb E., James W. Vaupel, and Kevin Kinsella. Gieryn, Th omas F. 1999. Cultural Boundaries of Science: 2000. Cells and Surveys: Should Biological Measures Credibility on the Line. Chicago: University of Be Included in Social Science Research? Washington, Chicago Press. D.C.: National Academies Press. Goldman, Dana, and James Smith. 2002. “Can Patient

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224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 430430 66/11/10/11/10 11:44:2211:44:22 AMAM Self-Management Help Explain the SES Health Hunt, Matthew O. 2007. “African American, Hispanic, Gradient?” Proceedings of the National Academy of and White Beliefs about Black/White Inequality, Sciences 99:10929–34. 1977–2004.” American Sociological Review Guo, Guang, Michael Roettger, and Tianji Cai. 2008. 72:390–415. “Th e Integration of Genetic Propensities into Social Jayaratne, Toby Epstein, Oscar Ybarra, Jane P. Sheldon, Control Models of Delinquency and Violence Tony N. Brown, Merle Feldbaum, Carla A. Pfeff er, among Male Youths.” American Sociological Review and Elizabeth M. Petty. 2006. “White Americans’ 73:543–68. Genetic Lay Th eories of Race Diff erences and Sexual Guo, Guang, and Elizabeth Stearns. 2002. “Th e Social Orientation: Th eir Relationship with Prejudice Infl uences on the Realization of Genetic Potential for toward Blacks, and Gay Men and Lesbians.” Group Intellectual Development.” Social Forces 80:881–910. Processes and Intergroup Relations 9:77–94. Guo, Guang, Yuying Tong, and Tianji Cai. 2008. “Gene Kay, Lily E. 1993. Th e Molecular Vision of Life: Caltech, by Social-Context Interactions for Number of Sexual the Rockefeller Foundation and the New Biology. Partners among White Male Youths: Genetics- Oxford: Oxford University Press. Keller, Evelyn Fox. Informed Sociology.” American Journal of Sociology 2001. Th e Century of the Gene. Cambridge, Mass.: 114:S36–66. Harvard University Press. Hacking Ian. 1995. “Th e Looping Eff ects of Human Keller, Johannes. 2005. “In Genes We Trust: Th e Kinds.” In Causal Cognition: A Multidisciplinary Biological Component of Psychological Essentialism Debate, ed. Dan Sperber, David Premack, 351–83. and Its Relationship to Mechanisms of Motivated Oxford: Oxford University Press. Social Cognition.” Journal of Personality and Social ———. 1999. Th e Social Construction of What? Psychology 88:686–702. Cambridge, Mass.: Harvard University Press. Kendler, Kenneth S., and Carol A. Prescott. 2006. Genes, ———. 2006. “Genetics, Biosocial Groups, and the Environment and Psychopathology: Understanding Future of Identity.” Daedalus 135(4): 81–95. the Causes of Psychiatric and Substance Use Disorders. Hall, Edward. 2005. “Th e ‘Geneticization’ of Heart Boston: Guilford Press. Disease: A Network Analysis of the Production Kevles, Daniel. 1985. In the Name of Eugenics: Genetics of New Genetic Knowledge.” Social Science and and the Uses of Human Heredity. Cambridge, Mass.: Medicine, 60:2673–83. Harvard University Press. Heath, Deborah, Rayna Rapp, and Karen Sue Taussig. Kitano, Hiroaki. 2002. “Systems Biology: A Brief 2004. “Genetic Citizenship.” In A Companion to Overview.” Science 295:1662–64. the Anthropology of Politics, ed. D. Nugent and Lafayette, DeeDee, Diane Abuelo, Mary Ann Passero, J. Vincent, 152–67. London: Blackwell. and Umadevi Tantravahi. 1999. “Attitudes toward Hedgecoe, A. 1998. “Geneticization, Medicalisation Cystic Fibrosis Carrier and Prenatal Testing and and Polemics.” Medicine, Healthcare and Philosophy Utilization of Carrier Testing among Relatives of 1:235–43. Individuals with Cystic Fibrosis.” Journal of Genetic ———. 2001. “Schizophrenia and the Narrative of Counseling 8:17–36. Enlightened Geneticization.” Social Studies of Science Landecker, Hannah. “Epigenetics and the Experimental 31:875–911. Formalization of the Environment.” Typescript. ———. 2002. “Reinventing Diabetes: Classifi cation, Author fi les. Division and the Geneticization of Disease.” New Lawlor, Debbie A., Roger M. Harbord, Jonathan Genetics and Society 21:7–27. A. C. Sterne, Nic J. Timpson, and George Davey Hernandez, Lyla M., and Dan G. Blazer. 2006. Genes, Smith. 2008. “Mendelian Randomization: Behavior, and the Social Environment: Moving beyond Using Genes as Instruments for Making Causal the Nature/Nurture Debate. Washington, D.C.: Inferences in Epidemiology.” Statistics in Medicine National Academies Press. 27:1133–63. Horwitz, Allan V. 2005. “Media Portrayals and Health Lerman, Caryn, Mary Daly, Agnes Masny, and Andrew Inequalities: A Case Study of Characterizations Balshem. 1994. “Attitudes about Genetic Testing of Gene x Environment Interactions.” Journal of for Breast-Ovarian Cancer Susceptibility.” Journal of Series B: Psychological and Social Sciences Clinical Oncology 12:843–50. 60B: 48–52. Lee, Sandra S., Johanna Mountain, and Barbara J. Horwitz, Allan V., Tami Videon, Mark Schmitz, Koenig. 2001. “Th e Meanings of ‘Race’ in the New and Diane Davis. 2003. “Rethinking Twins and Genomics: Implications for Health Disparities Environments: Possible Social Sources for Presumed Research.” Yale Journal of , Law and Genetic Infl uences in Twin Research.” Journal of Ethics 33:53–59. Health and Social Behavior 44:111–29. Link, Bruce G., and Jo Phelan. 1995. “Social Conditions

Gene-Environment Interaction and Medical Sociology 431

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 431431 66/11/10/11/10 11:44:2211:44:22 AMAM as Fundamental Causes of Disease.” Journal of Health Mol, Annemarie. 2002. Th e Body Multiple: Ontology in and Social Behavior, suppl.: 80–94. Medical Practice. Durham, N.C.: Duke University Lippman, Abby J. 1991. “Prenatal Genetic Testing and Press. Screening: Constructing Needs and Reinforcing NIEHS [National Institute of Environmental Health Inequities.” American Journal of Law and Medicine Sciences]. 2006. “Two NIH Initiatives Launch 17:15–50. Intensive Eff orts to Determine Genetic and ———. 1992. “Led (Astray) by Genetic Maps: Th e Environmental Roots of Common Diseases.” Press Cartography of the Human Genome and Health release. niehs.nih.gov/news/releases/2006/gei.cfm. Care.” Social Science and Medicine 35:1469–76. Nelkin, Dorothy, and M. Susan Lindee. 2004. Th e DNA ———. 1998. “Th e Politics of Health: Geneticization Mystique: Th e Gene as a Cultural Icon. New ed. Ann Versus .” In Th e Politics of Women’s Arbor: University of Michigan Press. Health: Exploring Agency and Autonomy, ed. Susan Nelson, Alondra. 2008. “Bio Science: Genetic Genealogy Sherwin, 64–82. Philadelphia: Temple University Testing and the Pursuit of African Ancestry.” Social Press. Studies of Science 38:759–78. Lock, Margaret. 2005. “Eclipse of the Gene and the Novas Carlos. 2007. “Genetic Advocacy Groups, Science Return of Divination.” Current Anthropology 46: and Biovalue: Creating Political Economies of S47–70. Hope.” In New Genetics, New Identities, ed. Paul Lock, Margaret, Julia Freeman, Rosemary Sharples, Atkinson, Peter Glasner, and Helen Greenslade, and Stephanie Lloyd. 2006. “When It Runs in the 11–27. London: Routledge. Family: Putting Susceptibility Genes in Perspective.” ———. 2008. “Patients, Profi ts and Values: Myozyme Public Understanding of Science 15:277–300. as an Exemplar of Biosociality.” In Biosocialities, Lutfey, Karen, and Jeremy Freese. 2005. “Toward Genetics and the Social Sciences, ed. Sahra Gibbon Some Fundamentals of Fundamental Causality: and Carlos Novas, 136–56. London: Routledge. Socioeconomic Status and Health in the Routine Novas, Carlos, and Nikolas Rose. 2000. “Genetic Risk Clinic Visit for Diabetes.” American Journal of and the Birth of the Somatic Individual.” Economy Sociology 110:1326–72. and Society 29:485–513. MacDonald, A., P. Davies, A. Daly, V. Hopkins, S. K. Omi, Michael, and Howard Winant. 1994. Racial Hall, D. Asplin, C. Hendriksz, and A. Chakrapani. Formation in the United States: From the 1960s to the 2008. “Does Maternal Knowledge and Parent 1990s. 2nd ed. New York and London: Routledge. Education Aff ect Blood Phenylalanine Control in Ossorio, Pilar, and Troy Duster. 2005. “Race and Phenylketonuria?” Journal of Human and Genetics: Controversies in Biomedical, Behavioral, Dietetics 21:351–58. and Forensic Sciences.” American Psychologist Markens, Susan, Carole. H. Browner, and Nancy Press. 60:115–28. 1999. “‘Because of the Risks’: How U.S. Pregnant Parrott, Roxanne L., Kami J. Silk, and Celeste Condit. Women Account for Refusing Prenatal Screening.” 2003. “Diversity in Lay Perceptions of the Sources Social Science and Medicine 49:359–69. of Human Traits: Genes, Environments, and Martin, Molly A. 2008. “Th e Intergenerational Personal Behaviors.” Social Science and Medicine Correlation in Weight: How Genetic Resemblance 56:1099–1109. Reveals the Social Role of Families.” American Parrott, Roxanne L., Kami J. Silk, Megan R. Dillow, Journal of Sociology 114, suppl. 1: S67–105. Janice Raup Krieger, Tina Harris, and Celeste M. McGue, Matt, and David T. Lykken. 1992. “Genetic Condit. 2005. “Th e Development and Validation Infl uence on Risk of Divorce.” Psychological Science of Tools to Assess Genetic Discrimination and 3:368–73. Genetically Based Racism.” Journal of the National Meaney, Michael J. 2001. “Maternal Care, Gene Medical Association 97:980–90. Expression, and the Transmission of Individual Parsons, Talcott. 1951. Th e Social System. Glencoe, Ill.: Diff erences in Stress Reactivity across Generations. Free Press. Annual Review of Neuroscience 24:1161–92. Parthasarathy, Shobita. 2007. Building Genetic Medicine: Mirowsky, John, and Catherine E. Ross. 2003. Breast Cancer, Technology, and the Comparative Politics Education, , and Health. New York: of Health Care. Cambridge, Mass.: MIT Press. Aldine de Gruyter. Perrin, Andrew J., and Hedwig Lee. 2007. “Th e Moffi tt, Terrie E., Avshalom Caspi, and Michael Rutter. Undertheorized Environment: Sociological 2005. “Strategy for Investigating Interactions Th eory and the Ontology of Behavioral Genetics.” between Measured Genes and Measured Sociological Perspectives 50:303–22. Environments.” Archives of General Psychiatry Pescosolido, Bernice. 2006. “Of Pride and Prejudice: Th e 62:473–81. Role of Sociology and Social Networks in Integrating

432 Handbook of Medical Sociology

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 432432 66/11/10/11/10 11:44:2311:44:23 AMAM the Health Sciences.” Journal of Health and Social Nurture Interplay Explained. Malden, Mass.: Behavior 47:189–208. Blackwell. Pescosolido, Bernice, Brea L. Perry, J. Scott Long, Jack ———. 2007. “Gene-Environment Interdependence.” K. Martin, John I. Nurnberger Jr., John Kramer, Developmental Science 10:12–18. and Victor Hesselbrock. 2008. “Under the Infl uence Rutter, Michael, Terrie E. Moffi t, and Avshalom of Genetics: How Transdisciplinarity Leads Us to Caspi. 2006. “Gene-Environment Interplay and Rethink Social Pathways to Illness.” American Journal Psychopathology: Multiple Varieties but Real of Sociology 114, suppl. 1: S171–201. Eff ects.” Journal of Child Psychology and Psychiatry Petryna, Adryana. 2002. Life Exposed: Biological 47(3/4): 226–61. Citizens after Chernobyl. Princeton, N.J.: Princeton Sankar, Pamela, Mildred K. Cho, Celeste M. Condit, University Press. Linda M. Hunt, Barbara Koenig, Patrick Marshall, Phelan, Jo C. 2005. “Geneticization of Deviant Behavior Sandra Soo-Jin Lee, and Paul Spicer. 2004. “Genetic and Consequences for Stigma: Th e Case of Mental Research and Health Disparities.” Journal of the Illness.” Journal of Health and Social Behavior American Medical Association 291:2985–89. 46:307–22. Schaff ner, Kenneth F. 2006a. “Behavior: Its Nature Plomin, Robert, and Avshalom Caspi. 1999. “Behavioral and Nurture, Part 1.” In Wrestling with Behavioral Genetics and Personality.” In Handbook of Genetics: Science, Ethics, and Public Conversation, ed. Personality: Th eory and Research, 2nd ed., ed. Erik Parens, Audrey R. Chapman, and Nancy Press, Lawrence. A. Pervin and Oliver P. John, 251–76. 3–39. Baltimore: Johns Hopkins University Press. New York: Guilford. ———. 2006b. “Behavior: Its Nature and Nurture, Part Plomin, Robert, and Frank M. Spinath. 2002. “Genetics 2.” In Wrestling with Behavioral Genetics: Science, and General Cognitive Ability.” Trends in Cognitive Ethics, and Public Conversation, ed. Erik Parens, Sciences 6:169–76. Audrey R. Chapman, and Nancy Press, 40–73. Prainsack, Barbara, and Gil Siegal. 2006. “Th e Rise Baltimore: Johns Hopkins University Press. of Genetic Couplehood? A Comparative View of Scheper-Hughes, Nancy, and Margaret M. Lock. Premarital Genetic Testing.” BioSocieties 1:17–36. 1987. “Th e Mindful Body: A Prolegomenon to Rabinow, Paul. 1996. Artifi ciality and Enlightenment: Future Work in .” Medical From Sociobiology to Biosociality.” In Essays on the Anthropology Quarterly 1:6–41. Anthropology of Reason, ed. Paul Rabinow, 91–111. Schnittker, Jason, Jeremy Freese, and Brian Powell. Princeton, N.J.: Princeton University Press. 2000. “Nature, Nurture, Neither, Nor: Black- Rapp, Rayna. 1999. Testing Women, Testing the Fetus: Th e White Diff erences in Beliefs about the Causes and Social Impact of Amniocentesis in America. New York: Appropriate Treatment of Mental Illness.” Social Routledge. Forces 72:1101–32. Reardon, Jennifer. 2004. Race to the Finish: Identity and Schwartz, David, and Francis S. Collins. 2007. Governance in an Age of Genomics. Princeton, N.J.: “Environmental Biology and Human Disease.” Princeton University Press. Science 316:695–96. Remennick, Larissa. 2006. “Th e Quest for the Perfect Senior, Victoria, Th eresa M. Marteau, and John Baby: Why Do Israeli Women Seek Prenatal Genetic Weinman. 2000. “Impact of Genetic Testing on Testing?” Sociology of Health and Illness 28:21–53. Causal Models of Heart Disease and Arthritis: An Richard, Martin, and Maggie Ponder. 1996. “Lay Analogue Study.” Psychology and Health 14:1077–88. Understanding of Genetics: A Test of a Hypothesis.” Shanahan, Michael J., and Scott M. Hofer. 2005. Journal of Medical Genetics 33:1032–36. “Social Context in Gene-Environment Interactions: Rose, Nikolas. 2007. Th e Politics of Life Itself: Retrospect and Prospect.” Journals of Gerontology Biomedicine, Power, and Subjectivity in the Twenty- Series B: Psychological and Social Sciences 60B: 65–76. First Century. Princeton, N.J.: Princeton University Shanahan, Michael J., Lance D. Erickson, Stephen Press. Vaisey, and Andrew Smolen. 2007. “Helping Rothman, Barbara Katz. 2001. Th e Book of Life: A Relationships and Genetic Propensities: A Personal and Ethical Guide to Race, Normality, and the Combinatoric Study of DRD2, Mentoring, and Implications of the Human Genome Project. Boston, Educational Continuation.” Twin Research and Mass.: Beacon Press. Human Genetics 10:285–98. Russell, F. F., B. C. Mills, and T. Zucconi. 1988. Shanahan, Michael J., Stephen Vaisey, Lance “Relationship of Parental Attitudes and Knowledge D. Erickson, and Andrew Smolen. 2008. to Treatment Adherence in Children with PKU.” “Environmental Contingencies and Genetic Pediatric Nursing 14:514–16. Propensities: Social Capital, Educational Rutter, Michael. 2006. Genes and Behavior: Nature- Continuation, and a Dopamine Receptor

Gene-Environment Interaction and Medical Sociology 433

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 433433 66/11/10/11/10 11:44:2311:44:23 AMAM Polymorphism.” American Journal of Sociology, suppl. Taioli, Emanuela, and Seymour Garte. 2002. “Covariates 1: S260–86. and Confounding in Epidemiologic Studies Using Shostak Sara. 2003. “Locating Gene-Environment Metabolic Gene Polymorphisms.” International Interaction: At the Intersections of Genetics and Journal of Cancer 100:97–100. Public Health. Social Science and Medicine 56(11): ten Have, Henk. 2001. “Genetics and Culture: Th e 2327–42. Geneticization Th esis.” Medicine, Health Care and ———. 2005. “Th e Emergence of Toxicogenomics: A Philosophy 4:295–304. Case Study of Molecularization.” Social Studies of Th ompson, Charis. 2005. Making Parents: Th e Science 35(3): 367–403. Ontological Choreography of Reproductive Technologies. Shostak, Sara, Peter Conrad, and Alan V. Horwitz. Cambridge, Mass.: MIT Press. 2008. “Sequencing and Its Consequences: Path Timmermans, Stefan, and Steven Haas. 2008. “Toward a Dependence and the Relationships between Genetics Sociology of Disease.” Sociology of Health and Illness and Medicalization.” American Journal of Sociology 30:659–76. 114, suppl. 1: S287–316. Turkheimer, Eric, Andreana Haley, Mary Waldron, Shostak, Sara, Jeremy Freese, Bruce G. Link, and Jo Brian D’Onofrio, and Irving I. Gottesman. 2003. C. Phelan. 2009. “Th e Politics of the Gene: Social “Socioeconomic Status Modifi es Heritability Status and Beliefs about Genetics for Individual of IQ in Young Children.” Psychological Science Outcomes.” Quarterly 72:77–93. 14:623–28. Silverman, Chloe. 2008. “Brains, Pedigrees, and Tutton, Richard, Jane Kaye, and Klaus Hoeyer. 2004. Promises: Lessons from the Politics of Autism “Governing UK Biobank: Th e Importance of Genetics.” In Biosocialities, Genetics and the Social Ensuring Public Trust.” Trends in Biotechnology Sciences, ed. Sahra Gibbon and Carlos Novas, 38–55. 22:284–85. London: Routledge. Tygart, C. E. 2000. “Genetic Causation Attribution and Singer, Burton H., and Carol D. Ryff . 2001. New Public Support of Gay Rights.” International Journal Horizons in Health: An Integrative Approach. of Public Opinion Research 12:259–75. Washington, D.C.: National Academies Press. Wailoo, Keith. 2003. “Inventing the Heterozygote: Singer, Eleanor, Toni Antonucci, and John Van Hoewyk. Molecular Biology, Racial Identity, and the 2004. “Racial and Ethnic Variations in Knowledge Narratives of Sickle Cell Disease, Tay-Sachs, and and Attitudes about Genetic Testing.” Genetic Testing Cystic Fibrosis.” In Race, Nature, and the Politics of 8:31–43. Diff erence, ed. Donald S. Moore, Anand Pandian, Singer, Eleanor, Amy D. Corning, and Mark Lamias. and Jake Kosek, 325–53. Durham, N.C.: Duke 1998. “Trends: Genetic Testing, Engineering, and University Press. Th erapy: Awareness and Attitudes.” Public Opinion Weinstein, Maxine A., James W. Vaupel, and Kenneth Quarterly 62:633–64. W. Wachter. 2008. Biosocial Surveys. Washington, Sloan, Philip R. 2000. “Completing the Tree of D.C.: National Research Council. Descartes.” In Controlling Our Destinies: Historical, Whitmarsh, Ian, Arlene M. Davis, Debra Skinner, and Philosophical, Ethical, and Th eological Perspectives Donald B. Bailey Jr. 2007. “A Place for Genetic on the Human Genome Project, ed. Philip R. Sloan, Uncertainty: Parents Valuing an Unknown in the 1–25. Notre Dame, Ind.: University of Notre Dame Meaning of Disease.” Social Science and Medicine Press. 65:1082–93. Stockdale, Alan. 1999. “Waiting for the Cure: Mapping Zavestoski, Stephen, Phil Brown, Sabrina McCormick, the Social Relations of Human Gene Th erapy Brian Mayer, Maryhelen D’Ottavi, and Jaime Research.” Sociology of Health and Illness 21:579–96. Lucove. 2004. “Patient Activism and the Struggle for Sunder Rajan, K. 2006. Biocapital: Th e Constitution of Diagnosis: Gulf War Illnesses and Other Medically Postgenomic Life. Durham, N.C.: Duke University Unexplained Physical Symptoms in the U.S.” Social Press. Science and Medicine 58:161–75.

434 Handbook of Medical Sociology

224422_24_418-434_r2wt.indd4422_24_418-434_r2wt.indd 434434 66/11/10/11/10 11:44:2311:44:23 AMAM