Genomic Essentialism: Its Provenance and Trajectory as an Anticipatory Ethical Concern

Since the inception of large-scale human genome research, scholars, professional associations and institutional regulators have cautioned about the risks of exacerbating a number of socially dangerous attitudes that have been linked to human genetics in the past. In the literature, these attitudes are usually labeled with one of a family of genetic or genomic “isms” or “ations”: e.g., “genetic essentialism,” “genetic determinism,” “genetic reductionism,” “geneticization,” “genetic stigmatization,” and “genetic discrimination.” These psychosocial processes are taken to exacerbate a number of ills that are similarly labeled, from medical racism and psychological fatalism, to economic exploitation and social exclusion. But as genomic information becomes more familiar in clinical and research settings as well as other life activities, do we need to continue to worry so much about this family of attitudes and their impact on existing problems?

As this collection of essays makes clear, even some ELSI scholars—working in the field that has traditionally called attention to those “isms”—have begun to suggest that such worry is no longer necessary. In response to their predecessors’ claim that geneticists engaged in “gene hype,” they now warn against “ethics hype.”¹ By contrast, we think that ELSI research should continue to call attention to the risks named by those isms. A first step toward seeing why continued vigilance is needed is to see in more detail what those concerns are.

The Enduring Concerns about Genomic Information

Scientific developments are often accompanied by questions about what might go wrong, and how scientific technologies (and potential mistakes) might harm individuals and society. In genomics, the underlying anxiety has been that disclosure of genomic information about health risks, behavioral predispositions, personal identification, familial relations, or ethnic ancestry will trigger a series of (seemingly unavoidable) negative responses that will affect those individuals, their families, and their communities at large. As the Human Genome Project launched in the 1990s, scholars began to look at a number of levels for evidence that such anxiety was warranted.

On the individual level, scholars warned that the generation and disclosure of genomic information might have immediate and long-term psychological costs.² These effects ranged from increased anxiety and depression, to loss of self-esteem, misinformed future planning decisions (especially among pediatric populations³), and poorer capacity to handle health conditions. If these harms occurred, individual genomic data would lead to patients’ disempowerment and discourage them from managing and mitigating their health risks. This would presumably also increase patients’ vulnerability to the so-called “nocebo effect,” whereby their negative expectations of treatment—rather than the treatment itself—result in a poor, even adverse medical response.⁴

Other scholars highlighted the irreparable harm to individuals’ (and families’) privacy⁵ and welfare interests that could occur if opening the “future diary”⁶ of genetic information led to discrimination against them outside the clinical setting: that is, if individuals were unfairly denied rights, privileges, or opportunities based on their genetic makeup.⁷ Still others raised concerns about the possible use of genetic data to abrogate personal responsibility in criminal justice contexts, where defendants have sought to present behavioral genetic data to absolve themselves or to mitigate their punishment.⁸ However, the concern about the impact of genomic information on conceptions of responsibility could be relevant to more than “deviant” members of society; indeed, it could extend to civil adjudicatory contexts and daily life activities in which ordinary people may be involved (e.g., tort litigation, child custody disputes, school settings), and where the introduction of genetic data could negatively impact the administration of justice.⁹

On the family level, scholars predicted that disclosure of genomic information would negatively interfere with relationships, across and within generations. In this regard, there have been concerns that parents (especially mothers, but potentially also grandparents¹⁰) would feel a sense of guilt about passing “bad” genes on to their children, or that family dynamics would be harmed when one parent blamed the other for passing a bad gene on to a child.¹¹ Others worried that knowledge of genomic predispositions would impair parent-child bonding and undermine the child’s development. Thus, e.g., scholars warned that parents who learned about their child’s genomic predispositions might become over-protective of their child and unnecessarily restrict the child’s activities (so-called vulnerable child syndrome),¹² or alternatively, that parents would become emotionally distanced from and disinvested in their child (“scapegoating”).¹³ In addition, there have been concerns that parents’ attention to a child with a genetic predisposition to disease could disrupt their relationships with their other children without the predisposition, or that parents could become anxious about those other children, despite the absence of the problematic predisposition.¹⁴ Scholars also have hypothesized that tensions between siblings could soar, as non-carrier, “healthy” siblings might experience “survivor’s guilt,”¹⁵ and that siblings with a genetic predisposition might grow distanced from family members without one or might become reluctant to disclose their genetic status out of a desire to protect their parents or siblings from anxiety or guilt.¹⁶

Finally, disclosure of genomic data has evoked concerns about its potentially wide-ranging impact on existing and new social categories, such as racial groups and people with disabilities. As Tom Murray points out, human genetics is the “science of difference” as well as the science of connectedness.¹⁷ Genomic research in particular aims to identify how genetic differences between individuals (and groups) affect and explain the diversity of observable human traits. Given the ways in which such phenotypic differences have been used to rationalize and reinforce oppression, scholars worry that genomic information will lend itself to the same unjust social dynamics.¹⁸ As sociologist Troy Duster pointed out, “Once you found Tay-Sachs in the Jews, sickle cell anemia in blacks, beta-thalassemia in Mediterraneans, cystic fibrosis in northern Europeans, you suddenly had a folk logic emerging in both the scientific community and those who knew about these developments. If sickle cell anemia is race-specific, then maybe criminality or intelligence is.”¹⁹ In turn, scholars have cautioned that gene-based distinctions among groups could further exacerbate inter-ethnic violence,²⁰ racial/ethnic prejudice and stereotyping,²¹ “genetic stigmatization,”²² and health inequality. ²³

What is it, then, in these isms—separately and together—that might provoke the concerns for negative individual, familial and social outcomes? The next sections consider how those isms are related to each other and the historical background which serves as the backbone for the continued concerned about this long list of apparently heterogeneous isms.

Taxonomy and Genomic “Isms”

As we have suggested, a whole lexicon of genomic “isms” and “ations” has grown up to name the concerns that have been registered regarding the psychosocial impacts of genomic information. At the core of this list are three key “isms” which are overlapping, but not (as sometimes assumed) interchangeable²⁴: “genetic essentialism,” referring to the belief that our identity and personal traits are “hard-wired” by our genomes and that they are intrinsically defined and can be predicted by our genetic makeup²⁵; “genetic determinism,” suggesting that genes alone cause complex human behaviors²⁶ and that “what happens for genetic reasons is involuntary”²⁷; and “genetic reductionism,” which presumes that human nature and health can be reduced to a “nothing but genes” description and equates biological explanations with genetic ones.²⁸

These phrases are echoed in related “isms” that implicate the medical world: “genetic fatalism,” suggesting that health status is contingent on one’s genetic makeup and that “little can be done to reduce the risks;”²⁹ “genetic meliorism,” which holds that the ultimate purpose of genetic science is to perfect our species (arguably, including the advancement of human happiness and wellbeing) by “conquering” disease, disability, senescence and death³⁰; and “genetic imperialism,” referring to the reductive claims of those who would attempt to re-orient all of health science around genomic information, on the grounds that “all disease is genetic disease.” ³¹

Finally, the three central “isms” that can affect the interpretation of new genetic information can also be extended to express broader socio-political concerns. These include “genetic racism,”³² “genetic sexism,” and “genetic ableism”—all of which reflect “othering” processes that arise from genomic data, including the marking and “excusing” of the different treatment of individuals from these respective groups by referencing their perceived biological and genetic differences; and “genetic statism,” which refers to the use of genetic information to advance group or state interests at the expense of individual interests. The latter further includes four sets of issues: “genomic tribalism,” which is the view that individuals have an obligation to their fellow citizens or group members to participate in genomic research,”³³ genomic sovereignty,” which calls for local, often governmental, ownership of genomic data that were obtained from the state’s population;³⁴ “genetic colonialism,” referring to the collection, use, and sale of genomic information at the expense of indigenous communities, including the imposition of Western theories of science and medicine on such communities, even as these theories conflict with and are carried out in disregard of indigenous culture’s values and traditional spiritual beliefs;³⁵ and “genetic nativism,” which presupposes the superiority of native-born populations and signals the xenophobic spirit of the historical eugenics movement³⁶ and of contemporary efforts to screen out certain immigrants and refugees.

A common thread among these isms is the belief that genes are causally powerful and predictive. Since genes are natural, internal, and transferrable biological elements, it is easy to interpret them as deterministic, immutable and boundary defining.³⁷ But, as has been well established, genetic predispositions are rarely deterministic in the manner that is commonly attributed to them. Indeed, research has demonstrated the high plasticity of genes, including epigenetic processes and multiple interactions between genes and environments (both in the uterus and over the course of a life) that impact an individual’s heath. ³⁸ Individuals’ identity formation process is similarly not “all genes.” As scholars have observed, it is impossible to reduce and equate the self to a molecular entity, in disregard of individuals’ social, historical and moral complexity,³⁹ and the extent to which one endorses a genetics-based identity varies by context and individual.⁴⁰

None of the attitudes expressed by these genomic ‘isms’ are unique to genomic research or its translational applications. As has been highlighted since the inception of this taxonomy of ethical, legal and social concerns, all the ‘isms’ reflect broader currents in modern society, and it is easy to find other biomedical examples that raise the same concerns. In fact, the mistake of assuming that these worries are uniquely genomic concerns has been criticized for committing its own “ism”: “genetic exceptionalism.”⁴¹ Critics worry that limiting our ethical, legal and social concerns to genomic advances encourages society to develop special policy solutions that target genomic advances but ignore the same issues in other biomedical domains, where they may actually be more prevalent and virulent. Indeed, emerging empirical studies of the actual psychosocial harms of new genomic information show only modest levels of “ism”-related harms relative to other kinds of diagnostic and predictive health information.⁴² (See essays by Roberts [“Assessing the psychological impact of genetic susceptibility testing”]Hamilton and Robson [“Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics”], and Biesecke [“The Psychological Wellbeing of Pregnant Woman Undergoing Prenatal Testing and Screening] in this collection.) Moreover, by singling out genomics as a special source of these concerns, those that fall into genomic exceptionalism may actually exacerbate the risks they fear, by giving genomic information more psychosocial power than it actually warrants.⁴³ As a result, the critique of genetic exceptionalism has been further amplified, leading to cautionary complaints about misplaced “ELSI hype” and questions about the scholarly agenda of those who seek to anticipate the psychosocial implications of human genome research.⁴⁴

From one perspective, genetic exceptionalism and the other ‘isms’ it implies are simply misperceptions of genetic science, and should be able to be remedied by genomic education. But from our perspective, the ‘isms’ are cautionary signals from our shared history about what to avoid in the future. When ELSI researchers use them to frame their work they are not asserting beliefs about the power of current science. Rather, they issue warnings designed to prevent the misperceptions they label from taking root in medicine and society as genetic information is filtered through our cultural lenses.

Contextualizing Genomic “Isms” in Historical Perspectives: What Were We Thinking?

At the advent of the Human Genome Project, scholars in this domain were undertaking a distinctly anticipatory task: their mission, at least according to the architects of the NIH grant-making program created to help support ELSI research, was to forecast and help society and the scientific community plan for the most urgent and significant questions that would be raised by the realization of the Project’s goals.⁴⁵ In approaching this task, ELSI scholars were informed by two contrasting sources: worrisome historical lessons and contemporary excitement about genomic research and its application.

The Human Genome Project’s architects could not ignore the inherited—and looming—shadows of preceding eras in which genomic research and other biomedical initiatives were used in socially unjust ways. The decades of discussion on the impact and implications of the Eugenics movement as culminated in World War II’s scientific racism, statism, discrimination, and efforts to annihilate human diversity shifted in the 1960s to extensive “nurture vs. nature” debates in psychology. These were further accompanied by the worldwide rise—in response to the atrocities and totalitarianism of World War II—of human rights discourses, including the evolution of modern principles of medical ethics and protection of human subjects in research.⁴⁶ In turn, these discourses brought to the fore questions about free will, the codification of the “client-centered” and “non-directive” ethos of genetic counseling, and the emerging discussion about ownership of and control on genetic information, as well as the right to know (or not to know) one’s genomic predispositions.

In addition, the sociobiology debates from the 1970s resurfaced in concert with the stigmatization of and discriminatory policies against vulnerable populations (e.g., the genetic attribution of sickle cell disease to African Americans and the claims linking “XYY Syndrome” with criminality⁴⁷). These debates called attention to the possible unintended consequences of genomic information, which appeared ever more relevant as scholars were pressured to reflect on other ethical mistakes that occurred in the 1980s in the contexts of genetic counseling, prenatal diagnosis and linkage studies as well as HIV screening policies during the AIDS crisis.⁴⁸ All this reflection, combined with the concurrent emergence of the biotechnology industry bubble, reinforced a sense of urgency to address, head-on, the dangers of stigmatization, group harms, and loss of privacy and confidentiality in health risk assessment.

The second obvious starting point for the architects of the ELSI program was the promises of social benefit that were being made by the architects of the Human Genome Project. From its inception, genomic research and its translation for human benefit have been characterized as “revolutionary,” “transformative,” “disruptive” and “paradigm-shifting.”⁴⁹ While a variety of banners have been used to promote the human applications of genomics (for example, in the health sphere, “personalized medicine,” “genomic medicine,” “pharmacogenomics,” “precision medicine,” and “public health genomics”), their promoters consistently contrast them with what they pejoratively characterize as the “old fashioned,” “inefficient,” “outdated,” “one size fits all” approach to medicine and public health. The new genomic paradigm, promoters have argued, will avoid or correct the accumulating deficiencies of the old and eventually provide a new conceptual foundation for the health sciences.⁵⁰ In its architects’ minds, in other words, the emergence of genomics bears all the marks of what Thomas Kuhn called a “scientific revolution,”⁵¹ and it is no coincidence that they embraced Kuhnian language in promoting it: for them, it was nothing less than a gestalt shift in biomedicine’s underlying worldview, a “paradigm shift.”⁵²

Promotional rhetoric is of course not uncommon in biomedicine. After all, as much as any new product in a marketplace, new ideas and approaches have to be “sold” to research funders, the health professions, health care institutions, and the public in advance of proving their medical merits.⁵³ As Thomas Kuhn might have predicted, they argue that it will work better because its improvements are based on dramatically different epistemic and ontological assumptions that make it hard to compare with what has gone before. A “new nosology” was thus necessary to organize the health sciences’ domain,⁵⁴ which in the genomic context required “reformation” of biomedical training around genomic themes,⁵⁵ proliferation of new clinical entities,⁵⁶ reconceptualization of human populations,⁵⁷ and re-orientation of health care’s goals and metrics of success from treatment to prevention.⁵⁸ In other words, the promoters’ appropriation of the notion of a paradigm shift was more than stylistic “semantics”: it reflected what they saw and praised as a scientific worldview that required different ways of thinking at multiple levels.

The promised clinical benefits of this revolutionary vision have been equally dramatic. For example, one program recently promised health care that need not involve any patient participation beyond a DNA sample. As was stated in its advertisement:

Imagine a time when you could have a simple blood test on the way to your doctor’s office and arrive at the appointment to find your doctor fully prepared with a diagnosis. Imagine that the ideal medicine would already be identified based on your genetic makeup and perfectly formulated to avoid side effects for which you are susceptible. … That is the goal of precision medicine.⁵⁹

Exaggerated claims like these have been reinforced by the marketing of clinical programs offering “personalized” and “individualized” genomic medicine” that can allow individuals to “know themselves” and allow their clinicians to “tailor” their care to their unique attributes.⁶⁰ By the same token, promoters of genomics have often made dramatic claims for the extent to which genomic sequencing and risk assessments will be able to forecast and cure future health problems, encouraging deterministic readings of genetic information. Thus, we find media metaphors of genetic tests as crystal balls, implying supernatural powers to predict a patient’s future.⁶¹

Given the potential of such gene hype to give rise to fatalism, to expand sick roles, and to facilitate genetic discrimination,⁶² it is unsurprising that the architects of the ELSI program urged caution and that contemporary ELSI scholars continue to share the concerns of their predecessors. Nor is it surprising that ELSI scholars across time continue to be concerned that the risks associated with earlier forms of biological reductionism and essentialism will recur, specifically: the “geneticization” of human identity, both at the individual and group level, and harms of fatalism and stigmatization that might flow from it.⁶³

In framing responses to extraordinary claims of impending benefit, ELSI scholars have begun by taking those claims at face value. To help individuals and groups control the abuse of the essential “genetic blueprints” or “secret future diaries” that genomics promises to reveal, these scholars have highlighted the need for strategies to counteract the risks. That is, if genomic information indeed has the potential to reveal the most important things there are to know about us, it might warrant exceptional forms of protection, including finding ways to protect “genetic privacy” independently of other forms of informational privacy. As a result of this reactionary mindset, proposals for addressing these worries have tended to recommend exceptionalist protections like the “Genetic Information Nondiscrimination Act” (GINA) at the policy level and the “right not to know” in clinical settings.

It is easy to conclude that this scientific discourse about genomics and the responses of its social critics have both been hyperbolic. As more and more genomic tools are routinized into clinical practice, public health surveillance, recreational ancestry-tracing, and forensic identification, the issues they raise appear more familiar. In medicine, for example, the continuity between the “paradigm-shifting” genomic medicine and the “old-fashioned, one-size fits all” medicine is visible from multiple perspectives, including in particular the fact that medicine has always been personalized and the fact that the announcement of new programs offering “precision medicine” often amount to little more than the rebranding of traditional clinical genetics services. But as long as the “exceptionalist” attitudes and beliefs about benefits that genomic hyperbole exacerbates continue to persist in society, researchers will need a framework that can capture the social harms they might produce, and the “isms” concepts will remain important analytic lenses for ELSI research. If scholars are really interested in getting beyond exceptionalist frames for their work, the next question is whether and how these cultural tides can be shifted, so that the ‘isms’ are no longer appropriate lenses to use in anticipating the social risks of genomic advances.

Breaking the Cycle of Genomic “Isms”: Mission Impossible?

While the most obvious reason why scholars turn to these ‘isms’ is that they name persistent social beliefs and attitudes, a lingering question is what sustains these beliefs in the public’s mind? Here, we consider several overarching and interrelated factors that may answer this question.

One possible explanation for persistence of thinking that genomic information has an exceptional capacity to do harm is that it continues to be fed by several other similarly common beliefs that have both genomic and social underpinning and that tend to encourage deterministic understanding of genomic information.⁶⁴ As Thomas Murray expressed, exceptionalist thinking displays a “vicious circularity”⁶⁵ among the various ‘isms’ and no single step in the conceptual cascade can be used to interrupt the cycle of ‘isms.’ Thus, e.g., while genetic essentialist beliefs are inherently grounded in deterministic, or at least reductionist understandings of genomics, they are also the mobilizing force behind genetic exceptionalism,⁶⁶ genetic statism and its corollary beliefs of genetic sovereignty and genetic nativism. Likewise, while perceptions of genetic fatalism are triggered by views of genetic essentialism,⁶⁷ determinism, and reductionism, they are also tangled with genetic meliorism that offers a potential remedy through genetic manipulation (e.g., gene editing).⁶⁸ Concurrently, as Celeste M. Condit [“Lay People Are Strategic Essentialists, Not Genetic Essentialists”] highlights in this volume, genomic racism is not necessarily grounded in genomics but in prevalent societal notions of racism (and by extension, of sexism, ableism, etc.). That is, genomics serves as a mask, but not as a cause, for those who already endorse essentialist views of race, sex, and abilities. This combination of genomic-based and societal-based forces is thus the challenge: for the cycle of ‘isms’ to be broken, there would need to be simultaneous interruptions in several, and possibly all of the ‘isms’ and socially dangerous essentialist views at any given time.

Another explanation for the persistence of the thought that genetic information has an exceptional capacity to do harm is public and professional genomic illiteracy. As Steven J. Heine has found in his work about genetic essentialism across societal arenas (e.g., sex/gender, health, race/ethnicity, criminality), a belief in the power of genes to determine people’s health status and social fates is commonly based on overly simplistic and somewhat distorted understanding of basic genetic science and information.⁶⁹ Moreover, genomic illiteracy plagues multiple social groups and across contexts: not just those who have low health literacy and lower educational attainment, but also scientific educators and healthcare professionals;⁷⁰ not just patient-clinician communications,⁷¹ but also educators’ and parents’ communication with children.⁷² The challenge is further exacerbated given that genomic illiteracy, especially ignorance of gene-environment interactions, has remained high despite ongoing efforts to increase genomic education and even as genomic information is ever more infused in public discourses.

Of course, the hyperbolic genomic messages that the public receives by scientists and other genetic enthusiasts (some of whom have financial investment in this arena) may be a partial culprit for the public’s confusion about the power of genomic information. As scholars have observed, since early on in the Human Genome Project, genomic data have not only been portrayed in highly essentialist, deterministic and reductionist rhetoric, but leading scientists have themselves entrenched such views by using magical and religiously-oriented metaphors. Thus, e.g., while the mapping of the human genome was hailed as “a quest for the Holy Grail”,⁷³ James Watson, a co-discoverer of the DNA structure in 1953 and the director of the Human Genome Project went as far as claiming that: “We used to think our future was in the stars. Now we know it is in our genes.”⁷⁴ Likewise, genomics pioneer Walter Gilbert used to introduce the concept of genomic data by holding up a compact disc and declaring: “This is you”.⁷⁵ Rhetorically, there is no clearer reflection of the geneticization of the human life.

Similarly, despite several decades of scholarly and scientific critique of this kind of rhetoric, it continues to dominate the marketing of the commercial “consumer genomics” sector. Indeed, direct-to-consumer (DTC) companies have taken genetic essentialism to a new level. This includes offering genetic ancestry testing, framing marketing campaigns in terms of knowing oneself and personal identity, suggesting that individuals have a moral responsibly to know and act on their genomic information, and suggesting that such information is the key to the empowerment of customers as individuals and as members of a larger genomic community.⁷⁶

Finally, as psychologists working in this area have postulated, resorting to genetic essentialist views is a cognitive strategy, a “folk biology”⁷⁷ that is associated with various social-cognitive motives and categorization processes that people use to structure concepts and to explain the social order.⁷⁸ In this sense, the belief that natural causes make us who we are facilitates the naturally occurring categorization process. By so doing, however, it also reinforces the demarcation of boundaries among groups and makes it easier to allow for genomic-based social segregation. How to both differentiate but unite people in the presence of genomic information will likely remain a challenge.

This challenge is further complicated because there are other psychological processes that may occur at the same time. Studies suggest, e.g., that lay public perceptions of diseases include both genetic and non-genetic but significant inputs, including behaviors, physical environments, spiritual factors and personal will.⁷⁹ Condit [“Lay People Are Strategic Essentialists, Not Genetic Essentialists”], in this volume, further argues that hyperbolic statements about genetic causation are not indicative of genomic illiteracy or deterministic beliefs but rather a reflection of people—lay public and experts alike—being “strategic essentializers,” resorting to essentialist beliefs only when it suits personalized, contextualized needs. We agree that people are strategic players, regardless of their level of genomic literacy, and that genomic ‘isms’ terminology does not on its own resolve the social harms of racism, sexism, ableism, etc. However, we think that maintaining the ELSI discourse on genomic ‘isms’ is important in its constant reminder of the potential harms of essentialist beliefs, even if utilized only in specific contexts. Moreover, it highlights the need for such societal harms to be simultaneously addressed in both specific and across contexts. Indeed, such a “twin-track approach” as it is termed in human rights discourses, offers a more holistic approach to rectifying social ills.

Genomic Isms, Medicine, and Society

While it is becoming clear that the ‘isms’ of ELSI research are neither unique to advances in genomics nor require exceptional policy remedies, it is still true that the rhetorical, educational, and psychological forces that animate them within genomic medicine have not gone away. Even more importantly, the fundamental social challenges that hyperbolic genomic messaging, low genomic literacy, and “folk biology” help sustain remain to be addressed. Indeed, to the extent that the virtues of genomic medicine continue to be marketed in overly deterministic and essentialistic ways, the actual significance of genomic information almost does not matter to its public use and interpretation. And as long as there are background social forces that encourage people to exploit deterministic and essentialistic interpretations of genomic information in the name of genomic meliorism, or in order to drive the wedges of genomic discrimination, stigmatization, and statism into the social cracks that already divide us, the vicious cycle of the genomic ‘isms’ will be self-perpetuating.

If we hope to break the cycle of genomic ‘isms,’ we will have to get better at resisting over-interpretations of the relevance that genomics has for people’s future potentials, ancestral vulnerabilities, community memberships and ethnic affiliations.⁸⁰ As long as genomic medicine has the potential to facilitate misunderstandings of those facts, the vicious cycle of “isms” will continue to be as important to take as seriously as its promises of human benefits.