Book Summaries: History, Tools, and Practices of Genetics and Hereditary Science

Here comes another contribution to my summaries for my list with Susan Lindee. Topic of the day: “History, Tools, and Practices of Genetics and Hereditary Science.” My original notes are much longer than what I provide in this essay, but I have a maximum of six pages to deliver. So I had to cut some of my observations. Have fun!

Works Read:
Comfort, Nathaniel C. 2012. The Science of Human Perfection: How Genes Became the Heart of American Medicine. New Haven: Yale University Press.
Kay, Lily E. 2000. Who Wrote the Book of Life? A History of the Genetic Code. Stanford: Stanford University Press.
Kevles, Daniel J. 1992. “Out of Eugenics: The Historical Politics of the Human Genome.” In The Code of Codes: Scientific and Social Issues in the Human Genome Project, edited by Daniel J. Kevles and Leroy E. Hood, 3–36. Cambridge: Harvard University Press.
Nelkin, Dorothy. 1992. “The Social Power of Genetic Information.” In The Code of Codes: Scientific and Social Issues in the Human Genome Project, edited by Daniel J. Kevles and Leroy E. Hood, 177–90. Cambridge: Harvard University Press.
Schwartz Cowan, Ruth. 1992. “Genetic Technology and Reproductive Choice: An Ethics for Autonomy.” In The Code of Codes: Scientific and Social Issues in the Human Genome Project, edited by Daniel J. Kevles and Leroy E. Hood, 244–63. Cambridge: Harvard University Press.
Keller, Evelyn Fox. 1992. “Nature, Nurture, and the Human Genome Project.” In The Code of Codes: Scientific and Social Issues in the Human Genome Project, edited by Daniel J. Kevles and Leroy E. Hood, 281–99. Cambridge: Harvard University Press.
Lindee, M. Susan. 2008. Moments of Truth in Genetic Medicine. Baltimore: Johns Hopkins University Press.
Duster, Troy. 2003. Backdoor to Eugenics. Revised edition. New York, London: Routledge.
Panofsky, Aaron. 2014. Misbehaving Science: Controversy and the Development of Behavior Genetics. Chicago: University of Chicago Press.
Lynch, Michael E., Simon A. Cole, Ruth McNally, and Kathleen Jordan. 2008. Truth Machine: The Contentious History of DNA Fingerprinting. Chicago: University of Chicago Press.
Derksen, Linda. 2000. “Towards a Sociology of Measurement: The Meaning of Measurement Error in the Case of DNA Profiling.” Social Studies of Science 30 (6): 803–45. doi: 10.1177/030631200030006001 .
Stevens, Hallam. 2013. Life Out of Sequence: A Data-Driven History of Bioinformatics. Chicago: University of Chicago Press.
Radin, Joanna M. 2013. “Latent Life: Concepts and Practices of Human Tissue Preservation in the International Biological Program.” Social Studies of Science 43 (4): 484–508. doi:10.1177/0306312713476131 .

Historian Nathaniel Comfort’s second book, The Science of Human Perfection, provides a history of the rise of medical genetics in the long twentieth century, arguing that eugenic ideologies have made up a core aspect of this allegedly new research. Comfort argues that the eugenic devotion of genetics becomes clear in the fact that, from the very beginning on, heredity and genetics were conceived as tools to perfect humans through curing diseases and normalizing abnormalities, that is, genetics was medicalized and medicine became genetic around 1900 already. Using theories of heredity and genetics to alleviate individual suffering, Comfort explains, is not necessarily an act of supererogatory compassion. To the contrary, he suggests, early genetics coincided with turn-of-the-century attempts to improve the human species overall through interventions on the level of the individual and both promises have since coexisted. Drawing on a wide range of archival manuscripts, popular and scientific publications, newspaper articles, biographies, and self-acquired oral histories, Comfort aims to debunk the myth that genetics has set a counterpoint to the “eugenic impulse,” of which he argues it “is timeless” (p. xi). In particular, he shows that genetics has not “colonized medicine,” but that physicians have worked towards integrating genetics into their work with growing enthusiasm (p. xii).

Chapter four is a very good example for how eugenics turned into genetic medicine, with all the perceived of authority and purity one would assume goes along with such a development. Comfort traces the development of the first heredity clinics in the US in the 1930s and 1940s, at the same time the Eugenics Record Office was shut down by V. Bush. Comfort argues that the clinics institutionalized medical genetics education and practice that has persisted over the course of the twentieth century and is perceived as non-eugenic although the clinics were designed and founded by convinced Progressive eugenics supporters like L. Snyder and W. Allan. Comfort explains how negative eugenics was medicalized in these new and trustworthy contexts: the hunt for pathological genes became a medical obsession; “the unfit” (p. 128) were turned into patients, individually assessed, and future suffering was allegedly prevented by taking away the individual carriers’ ability to procreate.

(By Günter Glasauer, CC BY-NC-SA 2.0)

Who Wrote the Book of Life is the second book of late historian of science and daughter to concentration camp survivors Lily Kay. Kay zooms in on the scientific ideas surrounding the ‘cracking’ of the genome from the 1940s to the 1960s, that is, the period Comfort identifies as not bringing about change in hereditarian theories and eugenics. Kay writes her heavily theorized history around inventions, people, and institutions who are known to have made major contributions to what Comfort has termed “the new genetics” (p. 225), unlike Comfort, who has labored hard not to talk about well-known players only. What unites Comfort’s and Kay’s account is the attempt to unveil hidden agendas on the scientists’ part. Close reading of contemporary scientific publications as well as drawing on and adding to Paul Edwards’s description of the pervasive computer metaphor in The Closed World allow Kay to trace the development of the genome into a biochemical entity and its perception as a—or the—code of life within the militarized technological intellectual milieu of the early Cold War. She takes a “deconstructivist, or poststructuralist, perspective” in doing so (p. xvii), arguing that the choice of metaphor with which scientists assess life, society, or ‘nature’ is informed by contemporary cultural perceptions and in the following limits the scientists’ ability to formulate their theories or introduce new practices.

Chapter four in particular makes a big contribution to the debate about whether or not military funding or Cold-War mindsets ‘spoil’ science, resonating very well with Leslie Stuart’s obsession in The Cold War and American Science. In this chapter, Kay explores a variety of theories about the setup of the genome and the relationship between DNA and proteins. On the one hand, this speaks to the contingency of scientific theories, but on the other hand, Kay suggests that militaristic, information-based approaches were doomed to fail. She draws a pretty rigid line between the older, cybernetic, militaristic, unsuccessful approach to ‘decode’ the genome (described in the first part of her book, including chapter four) and the more recent, dynamic, biological, successful method to tackle the genome (chapter five and beyond). It would be particularly interesting to hear Kay’s view on present-day peace-time biological computing and genetic models. Are they still doomed to fail?

Kevles and Hood’s edited volume is a heterogeneous selection of papers dealing with the history, promise, and social/legal/ethical issues surrounding the Human Genome Project. Historian Kevles’s introductory essay on the history of hereditary research from nineteenth-century eugenic thought to late-twentieth-century research in the US, Europe, and Japan resonates with Kay’s account in that it emphasizes the crucial impact that biochemical approaches had on the successful deciphering of the genome in the early 1960s. The fact that Kevles sees an almost total abandonment of eugenic goals and practices in genetic research after the Second World War absolutely contradicts Comfort’s argument from twenty years later. Kevles’s assurance that “[L.] Penrose focused the Galton research program away from eugenically oriented subjects and towards human and medical genetics as such” (p. 14, my emphasis) reads like an ironic pun and is precisely the kind of history Comfort writes against.

(“Wooden Sculpture of Science Genetics” by, CC BY 2.0)

In a chapter on “The Social Power of Genetic Information,” Dorothy Nelkin critically assesses the current state and future potential of a ubiquitous testing culture that is expanding to genetic and neuroscientific realms. Nelkin argues that genetic testing has created a new group of people, namely the “’pre-symptomatic ill’” (p. 189), a group of people at the risk of becoming a “genetic underclass” due to their alleged susceptibility to, or “risk of” a genetic disease as shown through biochemical tests and statistical correlations (p. 190). Nelkin illustrates with late-twentieth-century examples to what extent genetic testing has already permeated medicine and to what kind of neo-eugenic visions this leads, how this empowers geneticists, and to what extent this brings about a medicalization of deviant bodies, minds, or behaviors—points that resonate very well with Comfort’s monograph. Nelkin goes beyond genetic medicine, however, and points to the change in the popular perception of allegedly “hard evidence” (p. 186) mirrored in the media and popular press, the legal system, as well as in inclusion and exclusion criteria for certain professions or health insurance plans, to name only a few. Nelkin’s view is still balanced; she admits that genetic tests, if used to the benefit of the individual, can enhance workplace safety, can aid medical interventions, or can remove guilt from families and individuals. But that this is not always the case has already been argued by Comfort. Instead, genetic tests normalize and sort people out—Geoffrey Bowker and Susan Leigh Star could explain how.

Ruth Schwartz Cowan contributed a chapter on “Genetic Technology and Reproductive Choice,” in which she investigates more closely into prenatal testing, which was only alluded to in Nelkin’s contribution. Treating prenatal diagnosis as a “technological system” (p. 244), Cowan explores the ethical and cultural dimensions of restricting the use of this technology in fear of eugenic practices. She argues that the question of controlling prenatal genetic testing is inextricably linked to the question of access to abortion. Cowan explains her claim by first introducing the unintended uses consumers made of prenatal diagnosis, such as determining the sex and having abortions in case the sex of the fetus does not match the preferred sex of the prospective mother. This part of the argument is on a technological level. She proceeds by raising the issue to the level of feminist ethics, arguing for the self-determination of women by emphasizing that “nurturance matters,” including self-nurturance (p. 257). Only if physicians and scientists had kept their technological advance secret, overwritten scientific autonomy, or declared abortion illegal could these unintended, potentially eugenic, consequences be eradicated. “Is fear of such a [potentially eugenic] future worth such a cost?” (p. 262), she asks. Her answer is No.

The last chapter of the volume before the editors’ final reflections is written by Evelyn Fox Keller. Titled “Nature, Nurture, and the Human Genome Project,” Keller’s contribution explores the role of biological reductionism that Nelkin alludes to in her chapter. Keller frames her account by the waxing and waning of the nature/nurture (or biology/culture) divide. Whereas early-twentieth-century eugenicists sought the alleviation of social and cultural problems in biologically perfecting the human race, hereditary science had to explicitly abstain from all interference with culture—or even humans—after the Second World War. But with the rise of the pervasive psychological nurture debate of the 1950s and 1960s also came the new biochemical genetics and the claim that humans are their genes and that genes, that is, nature, can be edited. Biological reductionism, to Keller, is that “the notion of culture” is now part of biology, but “that the facts of culture continue to exert their undeniable force” and are much less accessible to scrutiny than ever before (p. 299, my emphasis). On her way to this conclusion, Keller not only speaks to Nelkin’s argument regarding the authority of genetic arguments and Comfort’s detection of continuity in eugenic ideologies, but also to Cowan’s concern with abortion and even to Nikolas Rose’s claim of patients’ agency in the neoliberal biomedical age (The Politics of Life Itself), when she challenges the claim that the diagnosis of “genetically aberrant” individuals (p. 296) leads to freedom and empowerment in the patients or prospective mothers; “’individual choice’” (p. 297) is no more than the task to normalize (or abort) the detected abnormal, she states.

Almost half-way between the publication of Kevles and Leroy’s and Comfort’s books, Susan Lindee’s latest monograph, Moments of Truth in Genetic Medicine, came out. She, too, offers an examination of the rise of genetic medicine to one of the central life sciences from the mid-1950s to the mid-1970s. Drawing on archival and private manuscript collections as well as on published scientific texts and a smaller number of interviews (cf. her “Essay on Sources,” pp. 231 ff), Lindee shows in five case studies on neonatal screening for phenylketonuria, pedigree research with the Pennsylvania Amish, chromosomal standardization, twin studies in behavior genetics, and on familial dysautonomia in Ashkenazi Jews how medicine has become geneticized over the course of these twenty years and how this “idea” of genetic disease has become a “social force” (p. 2).

Lindee examines institutions and technologies, but she puts particular emphasis on the importance of patients and their donation of tissue and other material necessary to extract DNA as well as their experience and knowledge that significantly contributed to insights into genetic “truth” and the creation of a “patchwork quilt” of knowledge (p. 5). Despite the similarity of periodization in her and Kay’s book, Lindee puts humans, exchanges, negotiations, suffering, hopes, and interests—in short: people and labor—in the center of her work, not a “code” like Kay, and also not an ideology, like Comfort. In a concluding chapter, Lindee explains that the geneticization of medicine transforms health and therapy more and more into a consumer good, the popularity of abortion being one of the consequences of this shift. The fact that individual ‘ill’ genes can be identified and isolated allows for patenting, marketing, and a general commodification of health and disease, she shows.

Genetic Engineering.

Backdoor to Eugenics was first published in 1990; even then, it was one of the later works in Troy Duster’s career. With a particular eye to stratifications along characteristics such as ethnicity, race, and class, Duster tells the history of the “old” and the “new eugenics” (p. xii), terms also used by Susan Lindee. The “old eugenics” was early twentieth-century overt attempts to improve the human race with little promise to better individual lives. The “new eugenics,” however, prenatal diagnosis, genetic screening, editing, and research, comes along with an unprecedented scientific authority and bears concrete promises to alleviate and prevent suffering from specific diseases and disorders. The convergence of a rising number and increasing sophistication of technological possibilities, the strong preventative focus, and conservative interests make genetic medicine to an even more dangerous eugenics than the old one, he argues, because this beneficial appearance enables the eugenic thought that arises from this recent fusion to enter hereditary science through the “backdoor.” Information, education, public debate, and ending the “risk” and “susceptibility” talk, Duster argues, are necessary to stop the advancement of eugenic interests and practices in the field of genetics (ch. 7), which he does not regard as malign per se, much in agreement with Nelkin.

More than any author discussed thus far, Duster concerns himself with examinations of the genetic basis of intelligence. Chapter six, for example, discusses a drastic increase in the literature on the genetic bases of intelligence, mental illness, and deviant behaviors in the late 1970s to the late 1980s. According to Duster, these endeavors were backed up by “the halo effect” of “hard” data-based scientific explanations (p. 97). Almost in a fashion à la Stephen J. Gould’s The Mismeasure of Man, Duster denounces the flaws of genetic research related to crime, racialized intelligence, and mental illness during this period. There is no firm foundational data on which any of the questions could be asked, Duster argues, and the mere fact that the questions are asked the way they are, namely in a discriminatory and biologically reductionist fashion that ignores the necessity for reforms towards social equality, is the real problem behind the science.

What sociologist Aaron Panofsky calls Misbehaving Science is a field of inquiry that resists clear rules and delineations, one that is ambiguous in its norms and (dis)orders and laden with controversy from inside and outside of the field; a “misbehaving science” is “an ongoing crisis of authority” instead of ‘behaving’ like a science and solve controversies (pp. 9–11). In its ambiguity and chaos, it differs from scientific misconduct, which is characterized by individuals’ breaking established rules. In his first book, Panofsky illustrates this concept by looking at the development of behavior genetics since the 1950s and its struggle to demarcate itself from non-science and eugenics. Panofsky draws on interviews with thirty-six members and critics of the field, fieldwork, as well as publicly available data and publications; his framing is heavily influenced by Pierre Bourdieu’s concept of the scientific field. Panofsky shows how behavior geneticists have attempted to leave behind any socially and politically charged claims and to foster a more ‘objective’ research environment based on new biochemical technologies; he also shows, however, how precisely this attempt failed and controversy characterized the field for decades. The field fragmented; neither the subjects nor the objects of study and not even the name of the field or its hierarchies were agreed upon by the psychologists, psychiatrists, neuroscientists, pharmacologists, and geneticists who were and are investigating into the genetic bases of behavior. Eventually, Panofsky argues that “persistent ungovernable controversy” is a growing problem in many scientific fields (p. 14) and that it limits the “possibilities for knowledge” (p. 242). In other words, he takes the stance that “misbehaving science” is bad and wasteful science that does not allow humanity to make any ‘progress’.

With Truth Machine, social scientists Lynch et al. have provided “a sociological history” (p. xvi) of how the practice of DNA fingerprinting gained legal and public credibility and advanced to a method of allegedly unbiased scientific “truth”-making superior to other forensic methods. The authors’ examination of “the practical, rhetorical, and administrative matter[s]” through which this authority was achieved (p. xvii), rests on over five dozens of legal cases from the US and the UK since the 1980s, interviews with lawyers and scholars from the natural and legal sciences, publications from the same fields, ethnographies, as well as popular media, such as crime scene investigation television shows. Lynch et al. illustrate that science and the legal system together have produced this new method of proof. They also show, however, that a DNA fingerprint consists only of a small portion of a human’s genome and is thus not unique to an individual; random matches are possible. The authors argue that this ambiguity cannot be resolved, even if the collection and analysis of a DNA sample are carried out according to the protocol (which is, as chapter three shows, not as easy as one may think); this makes room for subjective judgments and biased considerations, for instance, when a so-called reference population needs to be specified, that is, when the ethnicity of the potential criminal has to be guessed. The authors illustrate how the rise of DNA fingerprinting has introduced a new paradigm into the courts: biomolecular ‘facts’ and a statistical understanding of identification. Nonetheless, ‘real’ fingerprints, eye witness testimony, and confessions persist to be used as convincing evidence, but their credibility is being challenged by the seemingly infallible truth of DNA fingerprinting.

(“Who’s been using my phone?” by Chris Isherwood, CC BY-SA 2.0)

Drawing on court cases, published texts, and interviews, STS scholar Linda Derksen zooms in on the debate surrounding the construction of “objectivity” in DNA fingerprinting by defining the permissible range of error in DNA typing in her article “Towards a Sociology of Measurement.” In accordance with the work of Lynch et al., Derksen argues that the natural-legal science hybrid of DNA typing as forensic evidence has brought to the fore problematics of standardization and the justification of scientific practice that were non-existent before DNA typing arrived in the courts. Defining “objectivity” as “the outcome of a variety of practices and interactions, most of which have the intent of removing subjectivity, but actually have the function of making subjectivity invisible by accounting for its effects on the final measurement” (p. 829), Derksen argues that “objectivity” in DNA typing and in any other scientific practice is created by social negotiations and subjective judgements. What makes this account somewhat confusing is that the O-word appears sometimes in quotes and sometimes it does not, a fact that allows both positivists and constructivists to read quite a lot into her argument. Objectivity in the case of DNA typing, to Derksen, is nothing more than a “precise, numerical form [that has been given] to an error term” (p. 806) and it “arises out of the practice of science” (p. 827). Duster would probably argue that it arises out of the need of stabilizing social inequalities.

Life Out of Sequence is an ethnographic and historical account of bioinformatics, in particular the rise of genome sequencing, since the 1950s, with a focus on recent developments since the 1980s. It is historian of science Hallam Stevens’s first book, in which he draws on interviews, archival manuscripts, published scientific sources, and his own fieldwork in contemporary laboratories. Stevens’s argument that genome sequencing is an unprecedented computer-mediated approach to biology and that the practices and knowledge are only possible and “make sense only with and through computers” (p. 7) bears remarkable resemblance to Paul Edwards’s account in A Vast Machine. Stevens shows that the—contingent—evolution of computer architecture in the field of physics (cf. Edwards’s The Closed World and MacKenzie’s Knowing Machines) limited the methodological and intellectual possibilities for biologists once these machines were introduced and changed the paradigms of the field from “small to big, hypothesis-driven to data-driven, individuals to teams, and specific to general” (p. 10). In line with Abbate’s argument in Inventing the Internet, this is also a story of the user-driven technologizing of a field. As Stevens illustrates, biologists played a crucial role in demanding faster internet connection on campuses, but the disciplinary structure of biology and its physical environments adapted to computer technologies, not the other way around, he argues.

In chapters one and two, Stevens traces the introduction of computers to the field of biology in the 1950s and how they shifted the focus from work on individual genes to genome sequencing that draws on statistical frameworks and stochastic models in the 1980s and 1990s, a parallel to the work of Lynch et al.’s on the shift towards probability frameworks in forensic evidence. Stevens explains, in accordance with Ensmenger’s account in The Computer Boys Take Over and Patel’s argument in “The Benevolent Tyranny of Biostatistics,” that software was mostly apt for operations research and managerial tasks in the 1950s, 1960s, and 1970s. Some biologists used it during these early decades, but only a transformation of biology towards large-scale data analysis in the following decades computerized the discipline more broadly and gave birth to bioinformatics. The consequence of masses of data is the need for quantitative analysis. Eventually, as Stevens phrases it in his conclusion, the “Homo statisticus” gets introduced into the field (p. 220), the ‘normal’ is defined as the average organism (p. 223), and we are transformed into societies of individuals at risk (p. 222)—a notion very familiar from Duster’s Backdoor to Eugenics, Lindee’s Moments of Truth in Genetic Medicine, and Nelkin’s chapter in The Code of Codes.

Joanna Radin’s article “Latent Life” takes us back to the “salvage” (p. 2) of bodily material before the advent of digital paradigms in the science of heredity in the context of the International Biological Program (IBP) in the years 1964 to 1974. Latency has two meanings for Radin. First, she explains how biological anthropologists considered ‘primitive’ peoples as “latent life” in the sense of untapped potential for heredity research. Their bodies were, so the researchers, uncontaminated by modern environmental pollutants, and provided a means to study “nature unpolluted by culture” (p. 12). Additionally, indigenous peoples seemed a very manageable population due to their geographical and social isolation.

Second, Radin shows how access to freezing technologies allowed the researchers to turn blood samples into a latent form of life, stored in the freezer until the day new technologies of analyzing these samples would arise. This future-oriented collection of samples was crucially motivated by the researchers’ assumption that the indigenous peoples were endangered, an expectation that added a considerable notion of urgency to the argument that sample collections should be carried out immediately: even if the technologies to transform the samples into genetic data had not yet been developed, the necessary storage technologies were available and the ‘primitives’ were about to die out. Radin illustrates the curious development of the freezing technologies that originated, for example, from standardizing cattle through the convenient dissemination of bull semen. Keeping in mind Lynch et al.’s chapter on the importance of tacit knowledge when transferring DNA analysis into forensics, it seems striking that biological anthropologists seem to have been able to adopt cryopreservation without major difficulties. Very much in line with Truth Machine, however, is Radin’s account of how the WHO sought to standardize the collection and preservation techniques. Finally, Radin’s description of how blood samples came to “colonize(d)” (p. 16) freezers on different continents in a post-colonial world speaks to the genetic databases we read about in Stevens’s and Lynch et al.’s accounts. Even though blood samples are not yet digitized data, the “process of anticipation” that makes the production and acquisition of these artifacts so promising unites genetic databases and freezers filled with “latent life.”

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