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Perspectives on the Human Genome Project and Genomics: 14 The Trouble with Being “Socially Responsible”

Perspectives on the Human Genome Project and Genomics
14 The Trouble with Being “Socially Responsible”

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table of contents
  1. Cover
  2. Half Title Page
  3. Series List
  4. Title Page
  5. Copyright Page
  6. Contents
  7. Preface
  8. List of Abbreviations
  9. Introduction: Complexity, Contingency, and Controversy in Genomics
  10. Part 1. Producing the Genome
    1. 1. Challenges in the Early Years of the Human Genome Project at the National Institutes of Health: A Personal Retrospective
    2. 2. Unsung Contributors to the Human Genome Project: NIH Staff and Advisors
    3. 3. The NHGRI Genome Sequencing Cost Curve: An Indicator of Scientific Progress
    4. 4. History of the Encyclopedia of DNA Elements (ENCODE) Project
    5. 5. NHGRI Genetic Variation Program
    6. 6. Genome Technology Development Grants for the Human Genome Project and Beyond
  11. Part 2. Contextualizing the Genome
    1. 7. The Nature of Genomic Publishing
    2. 8. Europe and the Genome: An Overlooked Strategy for a Translational Genomics
    3. 9. Technological Change Driving Scientific Questions: Genomic Sequencing as a Case Study
    4. 10. Addressing Ethical, Legal, and Social Implications (ELSI): Navigating Ongoing Productive Tensions
    5. 11. “Variations on a Theme”: A History of Errors and Polymorphisms in the Human Genome Project and Beyond
    6. 12. Transforming the Genome into a Clinical Resource: DNA, Data, and Algorithms in Medicine
  12. Part 3. Interpreting the Genome
    1. 13. The Difference Genomics Makes: Characterizing Human Differences After the Human Genome Project
    2. 14. The Trouble with Being “Socially Responsible”: Science, GWAS, and Sexual Orientation
    3. 15. Epigenetics in Public Health: Comments on the “From Cells to Society” Approach
    4. 16. When Eugenic Enhancement Meets the Myth of Genetic Reductionism
    5. 17. modENCODE and the Elaboration of Functional Genomic Methodology
    6. 18. The Cancer Genome Atlas Project: Data-Driven, Hypothesis-Driven, or Something In-Between?
    7. 19. Large-Scale Biology: Philosophical, Historical, and Computational Perspectives
  13. Contributors
  14. Index

14 The Trouble with Being “Socially Responsible”

Science, GWAS, and Sexual Orientation

Michel Dubois, Catherine Guaspare, and Eric Vilain

Even though the field of genetics of sexual behaviors is as old as genetics itself (Rosario 1997), its public visibility remains closely related to the 1990s and Dean Hamers’ famous study on homosexual twins (Hamer et al. 1993). Funded by the National Institutes of Health (NIH), Hamer and his colleagues attempted to isolate markers at a specific location on the X chromosome—Xq28. Looking back today, this effort seems typical of the reductionism of behavioral genetics of the 1990s: ambitious certainly, but naïve in its attempt to reduce a complex behavior to a single genomic locus and difficult to replicate convincingly enough to achieve broad scientific consensus. There is a clear cognitive value in understanding sexual behavior in a multidisciplinary manner. However, since the 1990s, and for many reasons, the biological approach of sexual behavior has experienced a slow and halting progress: “discoveries here have lagged far behind many other areas of behavioral genetics” (Ngun and Vilain 2014).

Given this general context, one can easily understand the echo obtained in the public as well as in the scientific community by the announcement, in August 2019, of the publication in the journal Science of a multidisciplinary study claiming to have “performed a genome-wide association study (GWAS) on 477,522 individuals, revealing five loci significantly associated with same-sex sexual behavior” and estimating all in all that “genetic variants accounted for 8 to 25% of variation in same-sex sexual behavior (. . .)” (Ganna et al. 2019). This study is presented as setting new standards: a “monstre research” (Serra 2019), “the largest of its kind ever done” (23andMe 2019), “most thorough investigation into the genetics of same-sex sexual behavior to date” (Basu 2019), “a big step forward” (Ennis 2019), etc.

This latest high-profile publication is interesting for several reasons. First of all, it clearly shows that, despite the difficulties encountered, there is still an ongoing effort to advance the science of sexual behavior. Second, this study has clear links with a more global movement, that of an emerging multidisciplinary approach known as sociogenomics, which pairs the “twin gold standards” of genomic methodology (GWAS and structural DNA analysis) with research in order to find genetic causes for non-disease phenomena such as sexual orientation, educational attainment, life satisfaction, debt, etc. (Conley and Fletcher 2017; Mills and Tropf 2020). Finally, the science of sexual orientation traditionally fascinates the public and gives rise to multiple and unexpected social appropriations (Conrad and Schneider 1992; Conrad 1999).

This article is organized in two main parts. In the first part, we clarify the nature of the scientific findings provided by Ganna et al. (2019), both in their historical scientific context and their methodology. In the second part, we address three issues related to the public diffusion of these findings: (1) the organizational setup created to plan and control the public dissemination of the findings, (2) the variety of interpretations, and (3) controversies generated by this study. Our focus on this publication as a model stems as much from what it represents in terms of methodological and scientific advances as from the issues raised by its public circulation. The social and political stakes of genetics have been discussed by many historians and sociologists of science (Nelkin and Lindee 1995; Meloni 2016). They are just as relevant to behavioral genetics as they are to other subfields of genetics, such as population genetics. One needs only to recall the public controversy following the publication of David Reich’s 2018 book Who We Are and How We Got Here.

Thanks to the advances in sequencing technologies and data processing, it is possible to study human variation using not just a few dozen polymorphisms, but hundreds, thousands, or even hundreds of thousands. But what happens when the associations produced by the genetic data clash with the classifications socially accepted? What happens when their findings are used, simplified, or even distorted for social or political purposes? Our case study suggests that the contemporary development of GWAS studies calls for a vigorous reflection on the forms and consequences of the scientists’ public engagement. We shall see that despite the author’s effort to design their scientific investigation as “socially responsible,” they have never been able to create the conditions necessary to fully ensure this responsibility. We consider that the example of the public trajectory of this latest advance should prompt us to rethink on a more global scale the conditions for building the new genetics of sexuality, and beyond of human behavior, as a “socially responsible science.”

1. And Then GWAS Came Along . . .

The concept that sexual orientation has a biological basis is not recent. It was initially rooted in the belief that homosexuality (a term coined by the journalist Karl-Maria Kertbeny in 1869 and defined as an innate condition) is the result of a defective development (Kraft-Ebing 1892). The paradigm shifted slightly in the mid-twentieth century with the concept of “third sex” (Hirschfeld 1903, 1915), a variant of the idea that gay men have some innate feminine characteristics, which persists in the research performed on neurological correlates, based on identifying anatomical or functional features of the opposite sex in gay or lesbian brains (LeVay 1991; Savic et al. 2005; Berglund et al. 2006; Rice et al. 2012).

The concept that genetics influenced sexual orientation was demonstrated in the early 1990s with heritability studies that showed that concordance rates for sexual orientation was higher in dizygotic twins (non-identical, not sharing 100 percent of their genome) than in monozygotic twins (identical, sharing 100 percent of their genome), suggesting heritability for the sexual orientation trait (Bailey and Pillard 1991; Bailey et al. 2000; Kendler et al. 2000; Kirk et al. 2000). The effect, however, has been shown to be not as strong as initially thought when convenience samples were used (median concordance rate of 0.54) compared to probability samples (median concordance rate of 0.24) (Bailey et al. 2016). The moderate heritability was already a telltale sign of a combination of multiple, complex, small genetic effects and possible environmental effects.

Actual genetic studies began in earnest in 1993 with finding of genetic linkage of male sexual orientation to the Xq28 region on the X chromosome (Hamer et al. 1993). This started a long cascade of attempts at replications extending all the way to 2019. Subsequent studies in general replicated the findings (Hu et al. 1995; Hamer 1999; Sanders et al. 2015), although Rice and colleagues did not (Rice et al. 1999). Another GWAS investigation identified highest linkage scores at chromosomes 7 (7q36) and 8 (8p12) and found linkage at region 10q26 that resulted from excess sharing of maternal alleles only. This particular finding is relevant to a potential involvement of epigenetic mechanisms.

Similarly, a whole area of investigation of sexual orientation has successfully demonstrated that there were in utero environmental effects. The fraternal birth order effect is a highly replicated finding: gay men have a larger number of older brothers (but not older sisters) than straight men (Blanchard and Bogaert 1996; Blanchard 1997; Jones and Blanchard 1998). It was confirmed by meta-analyses, (Blanchard 2018a; 2018b), with a moderate effect size (Bogaert 2004). In women, however, birth order is not predictive of sexual orientation.

The biological mechanism underlying fraternal birth order has long been hypothesized to be based on the maternal immune reaction caused by a male pregnancy, with each successive male pregnancy fortifying this immune response. This maternal immune hypothesis was recently tested: Mothers of gay sons with older brothers were found to have a higher level of antibodies against brain proteins encoded by the male Y chromosome (PCDH11Y and NLGN4Y) compared to women with straight sons (Bogaert et al. 2018). These data, reviewed by Bogaert and Skorska (Bogaert and Skorska 2020), strongly support a maternal immune mechanism to the fraternal birth order effect. It is possible that the immune effect is mediated by epigenetic changes in the fetal brain. It certainly provides an additional layer of complexity to the underpinnings of sexual orientation.

In this context, with growing evidence for non-genetic, in utero effects, and genetic association studies that have not reached clear consensus and were based on sample sizes that were too small to allow for genome-wide significance of association, enters the Ganna and colleagues investigation in 2019 (Ganna et al. 2019). With almost half a million participants (477,522 to be exact), both males and females, it dwarfed all the previous GWAS studies in number and gender diversity.

As the team chose to perform a GWAS, one can find in this 2019 publication most of the general features observed in many other GWAS studies (Visscher et al. 2012, 2017; Appasani 2016). They generally (1) rely heavily on high-throughput genotyping technologies; (2) they test millions of markers in thousands of individuals gathered from diverse cohorts; (3) they assume that most phenotypic variations are controlled by large numbers of genes; (4) they aim at detecting associations between single-nucleotide polymorphisms (SNPs), the most common change in human genomes, and phenotypes; (5) they look at SNPs scattered across the genome without any a priori list of candidate loci (“hypothesis-free”); and (6) they may be used to create genetic predictors, polygenic risk score, a composite score of the cumulative effects of the identified genetic variants.

But what the Ganna et al. (2019) publication makes also particularly clear is that, over the years, GWAS studies have gradually shifted from diseases to non-pathological traits, such as sexual orientation but also subjective well-being, educational attainment, or income inequalities. In addition to the well-established medical genomics, there is now a new area of investigation known as social genomics (Conley and Fletcher 2017; Freese 2018), a multidisciplinary field that, despite its ostensible novelty as its explicit willingness to contribute to the definition of progressive policies, is already being criticized as “the latest chapter in a tradition of hereditarian social science dating back more than 150 years” (Comfort 2018; see also Bliss 2018).

The results of the Ganna et al. (2019) publication are modest, and the authors are far from defending a strong hereditary thesis. The study did not find a significant association with Xq28, and clearly shows that there is a genetic influence on sexual orientation. However, this influence is the product of many genetic factors (i.e., sexual orientation is a “polygenic” trait) and remains limited: Genetic variants account for 8 to 25 percent of variation in male and female same-sex sexual behavior (Ganna et al. 2019). The rest could be caused by environmental factors such as the fraternal birth order effect discussed above. In addition, the authors zoom in on five genetic variants in candidate regions on chromosomes 4, 7, 11, 12, 15, which offer potential mechanisms for a molecular explanation. Yet the variance explained by the polygenic scores constructed for the study was extremely low (less than 1 percent): “These scores, claim the authors, could not be used to accurately predict sexual behavior in an individual.”

A major critique to the study was its way of assessing sexual orientation. Individuals who had at least one same-sex sexual experience were categorized as “non-heterosexual” and those who had had none as “heterosexual.” It is potentially a major confounding factor, because individuals who had sex once with a same-sex partner may have done so because of an attraction to novelty rather than actual, sustained, same-sex attraction. As pioneer researcher in the field Dean Hamer comments: “These are fascinating findings, but it’s not really a gay gene study per se” (Kaiser 2019). Yet, the study is the largest of its kind ever on sexual orientation and is likely to influence the field for years to come.

2. “Let’s Behave”: GWAS in the Public Sphere

While this Ganna et al. (2019) publication is likely to have a considerable impact on the future of behavioral genetics, it is particularly important to study its public circulation. The field is known to be a controversial area, “taboo genetics” (Hayden 2013) dealing with inflammable topics such as intelligence, race, violence, crime, or sexuality. Aaron Panofsky has described the enigmatic and profitable nature of this controversial nature: “This persistent dissensus about behavior genetics is one of the great puzzles about the field. (. . .) behavior geneticists found ways to make dissensus, controversy, and provocation scientifically ‘profitable.’ The conflicts and provocations behavior geneticists engaged spurred practical scientific activity. Thus, whether or not they were ‘right’ or what they claimed was ‘true,’ the debates about their work kept the engine of scientific productivity turning” (Panofsky 2014, 140). But—and this is what makes the Ganna et al. (2019) publication so interesting—this latest advance in the area of genetics of sexual orientation presents itself as a strong departure from this tradition of “misbehaving” science, in particular in view of its explicit aim to be publicly perceived as “responsible research” anticipating the debatable nature of its own findings. In this second part, we explore what this label of “responsible research” really means and assess the ability of the authors to achieve their goal.

2.1. Looking for Social Responsibility

The Ganna et al. (2019) study was mainly funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and led by scientists at the Broad Institute at the Massachusetts Institute of Technology and Harvard. Their collaborators come from multiple institutions—Karolinska Institute, University of Cambridge, University of Chicago, University of Colorado, etc.—and disciplinary backgrounds: genetics, psychiatry, biostatistics, epidemiology, ethics, law, sociology, etc.1 The Broad Institute’s involvement in this study deserves to be highlighted. As Bliss has recently pointed out, this institute occupies a central position in the field of genomics: “The Broad was one of the main sequencing centers of the Human Genome Project and the global follow-up projects like the International HapMap Project and the 1000 Genomes Project. Several of the Broad’s founding directors were the leaders of these transnational projects, which have been mounted by hundreds of nations around the world. The Broad has also originated many of genomics’ foundational technologies, methods used by genome scientists across the world” (Bliss 2018, 48). Another key genomic player associated to this study is the company 23andMe, a US biotech company selling various genetic services: ancestry reports, DNA relative Finder, Health Predisposition Reports, etc. The publication is based in part on the use of data provided by the company: “The 23andMe sample comprised 23andMe customers who consented to participate in research and chose to complete a survey about sexual orientation (from many possible survey topics)” (Ganna et al. 2019).

Recognizing the sensitivity of the topic, and anticipating the potential distorted readings of their work, the team tried to “do things well” by engaging the LGBTQIA+ community, initiating a communication setup, and fostering contradictory public debate, and more broadly by promoting the concept of “responsible research.” Indeed, the first comments generated by the publication of this study, in August 2019, emphasized the excellence but also the sense of responsibility of the team assembled: “I kind of held my breath when I first saw the study—I thought, oh no,” said Dr. Mills of Oxford. “But it’s the top geneticists and some of the top social scientists in the field working on this, so if somebody was going to do it, I’m glad they did it” (Belluck 2019). Others responded similarly: “This research has been conducted and reported by the Broad Institute team with commendable responsibility” (Ball 2019).

One year earlier, by the beginning of 2018, once the first results gathered, the team’s sociologist—Robbee Wedow, who had worked on the educational attainment,2 before joining the Broad, but also on gay and lesbian students (Wedow et al. 2017)—was in charge of organizing the cooperation and the exchanges with LGBTQIA+ advocacy groups to develop the most accessible ways to explain the nature of their investigation design and its outcomes to the general public. They mobilized the expertise of an independent campaigning charity—“Sense about Science”3—that helps scientists to set up public debates. Before any publication, and during two workshops, the researchers presented their study to advocacy groups who in turn shared their opinions, concerns, and criticisms. Based on these inputs, the team rewrote some sections of the paper to clarify the vocabulary and “the many limitations and nuances” of their study as well as their willingness to emphasize the diversity of sexuality: “We wish to make it clear that our results overwhelmingly point toward the richness and diversity of human sexuality. Our results do not point toward a role for discrimination on the basis of sexual identity or attraction, nor do our results make any conclusive statements about the degree to which ‘nature’ and ‘nurture’ influence sexual preference” (Ganna et al. 2019, Box 2).

This early feedback was also used to develop multimedia tools and the specific communication setup accompanying the release of the findings. Two websites and a press conference were planned before the release of the study. One of the websites is an online FAQ:4 Through short pedagogical videos or writings, the scientists explain in an accessible way what their study says, what it doesn’t, what it allows and doesn’t allow. They push the educational concern to the point of clarifying the basics of genetics and heredity. Moreover, the Broad Institute website5 proposed a set of nine essays, gathered under the title “Perspectives.” In these short pieces, written by members of the Broad Institute’s LGBTQIA+ affinity group, Out@Broad group, are discussed the long history of misuses of genetics of sexual orientation, the absence of “ethical oversight” of GWAS research, the need to protect sexual minorities, etc.

The decision to post on the Broad Institute website critical comments written by members of the Institute is another striking feature of this “responsible research” approach. This displays the intention of the team not to extricate itself from the public debate. Far from mocking or ignoring the concerns expressed by members of Out@Broad, its engagement with the community aims to reckon the potential impacts of their work on society. Generally speaking, four key take-home messages were systematically disseminated through these various media to delineate what can legitimately be inferred from the Ganna et al. (2019) publication: (1) sexuality is complex; (2) sexuality is partly shaped by genes and partly by environment, which allows us to reach at least one definitive conclusion: there is no “gay gene”; (3) it is impossible to predict someone’s sexual behavior from genetics; and (4) the diversity in sexual behavior is natural, a part of our humanity.

2.2. Interpretations and Social Uses

To find out if this “official” narrative has fulfilled its regulatory role, we monitored the public circulation of the Ganna et al. (2019) study, from August to December 2019, using two general public sources, Google and Europresse, a full-text press database featuring a wide selection of general-interest newspapers and specialized publications. We identified more than two hundred items (articles, posts, interviews, etc.) presenting or discussing this study in a wide variety of English- and French-speaking media:

  1. Multidisciplinary or specialized scientific journals—Science (Kaiser 2019), Nature (Maxmen 2019);
  2. Scientific magazines—Scientific American (Reardon 2019), La Recherche (Perdry 2019);
  3. National and international press—The New York Times (Belluck 2019), The Washington Post (Bever 2019), Wall Street Journal (Abbott 2019), The Guardian (Davis 2019), Haaretz (Jacobson 2019);
  4. General information and opinion websites—The Conversation (Sullivan 2019), Huffington Post (Gallagher 2019b), Quillette (Barnett 2019);
  5. Websites or blogs specialized in issues such as scientific popularization—Popular Science (Wetsman 2019), Discover Magazine (Dengler 2019); sexual minorities—gay community news (Donohoe 2019), Philadelphia Gay News (Brownworth 2019), LGBTQ Nation (Gallagher 2019a); or religion—California Catholic Daily (anonymous 2019), Family Research Council (Sprigg 2019), The Gospel Coalition (Carter 2019), VirtueOnLine (Knight 2019), etc.

Without going into too much detail, two general lessons emerge from our study. First, despite the care taken by the authors to provide an official narrative, the public circulation of their study has been fueled by multiple and frequently contradictory interpretive schemes. Table 14.1 gathers examples of articles’ main titles illustrating the variety of interpretations observed. We keep three types of interpretation: determinism, indeterminism, and what might be called the “complexity scenario.”

If we discard articles that don’t match any of the three identified schemes described (approximately 20 percent of our items) the two contradictory schemes—determinism vs. indeterminism—represent most of the articles in our corpus, with a clear-cut prevalence of the indeterministic scheme (46 percent) over the deterministic one (19 percent). Scheme 3, which can be described as the “complexity scenario” accounts for only 14 percent of our items. In other words, and if one accepts to consider the main title of the articles as a reliable indicator of their content, most of the public circulation of this study is based on misinterpretations and/or simplifications.

Second, there is no simple relationship between the claimed social aims of the authors and the social and political uses observed. As already recalled, the authors wish “to make it clear that [their] results overwhelmingly point toward the richness and diversity of human sexuality.” Are there good reasons to believe that this study will help improving the social acceptance of sexual minorities? The prevalence of the indeterministic scheme (46 percent) in the public circulation of the Ganna et al. (2019) study suggests that, whatever the authors’ good intentions may be, this study can be easily enrolled to support the belief that sexual behavior is mostly a choice, and consequently something that could be changed. Conversion therapies remain a subject of public debate in the United States (Drescher et al. 2016). And as a matter of fact, conservative and religious opinion media quickly identified the potential socio-political benefice they could draw from this study: “This new study confirms prior studies that show there is no genetic cause of same-sex attraction. It is unscientific to argue that someone is ‘born that way’ when referring to homosexuality. All the more reason why people should have the right to seek counsel to overcome unwanted same-sex attraction, behavior, or gender confusion” (Liberty Counsel 2019). Or more explicitly: “If homosexuality is primarily a matter of nurture, not nature, why is it wrong to let gay people who want to seek therapy in hope of reducing or eliminating same-sex desire undergo that treatment?” (. . .) “This study undercuts the case against this kind of therapy, right? If same-sex desire is not genetically hard-wired, what’s wrong with the principle behind this therapy from a scientific point of view (as distinct from a moral or political one)?” (Rod Dreher cited by J. Gallagher 2019).

Table 14.1. Public circulation and interpretations

Scheme 1

(genetic determinism)

Scheme 2

(genetic indeterminism)

Scheme 3

(gene-environment interaction)

Genetics may explain up to 25% of same-sex behavior, giant analysis reveals (Science)

L’homosexualité n’est pas liée à un gène, confirme une vaste étude scientifique (Le Parisien)

There is no “gay gene.” There is no “straight gene.” Sexuality is just complex, study confirms (PBS)

Research finds genetic links to same-sex behavior (Wall Street Journal)

Le comportement homosexuel ne peut être prédit par la génétique (Québec Science)

New study confirms that sexuality is really complicated (Refinery 29)

New landmark study finds that genetics influences sexual orientation (LGBT Nation)

Search for “gay genes” comes up short in large new study (KUER)

Homosexualité: pas un “gène gay,” mais des variations génétiques et des facteurs environnementaux (Pourquoi docteur)

New genetic links to same-sex sexuality found in huge study (ABC news)

Study confirms genes don’t determine homosexuality (Liberty Council)

Same-sex sexual behavior and genes: like love, the answer is complicated (Stat)

Stop calling it a choice: Biological factors drive homosexuality (The Conversation)

Homosexuality not genetic, says study (The Independent)

Is sexual orientation genetic? Yes and no, an extensive study finds (Haaretz)

GWAS reveals five genetic variants associated with same-sex behavior (Clinical Omics)

No “gay gene”: Massive study finds no specific genetic predictors for sexual behavior, preferences (Genetic Literacy Project)

A study of “gay genes” shows sexual orientation is more complicated than just genetics (Bustle)

There’s no “gay gene”—There are thousands (Out)

Previously theorised “gay gene” doesn’t exist, study suggests (The Scotsman)

Homosexualité: pas un “gène gay,” mais des variations génétiques et des facteurs environnementaux (Handyzen)

The “gay gene” is a total myth, massive study concludes but collectively, genes do play a role in sexual orientation (Live science)

Study finds no “gay gene,” but some question whether the search should have started at all (WBUR)

There is NO such thing as a single “gay gene”: Scientists find homosexuality is likely caused by a combination of environmental and genetic factors (Daily Mail)

“Born that way” no more: The new science of sexual orientation (Public Discourse)

Is there a “gay gene”? Major new study says no (CBS)

Study debunks “gay gene” myth, but shows same-sex behavior is not a choice either (Cultura colectiva)

Same-sex sexual behavior partially influenced by genetics (23ANDME)

Search for “gay genes” comes up short in large new study (NPR)

Une étude nuance les liens entre génétique et homosexualité (Moustique)

There is no need to list all possible examples, but obviously the team’s communication strategy hardly prevents or controls conservative or discriminative forms of appropriation. At best it creates a normative landmark that makes visible the magnitude of the sociopolitical misuses. In the case studied, being “socially responsible” is ultimately a rather modest endeavor: It means providing the official narrative that could help the general public to discriminate between the legitimate and illegitimate uses.

2.3. A Scientific and Technological Controversy

From its release in August 2019, scientists debating publicly about the Ganna et al. (2019) study focused on two distinct issues: (1) the significance of the findings, and (2) the value of studying the biological origin of sexual behavior.

For some, its main contribution is the refutation of the “gay gene” hypothesis and the elaboration of a complex vision of sexuality: “A new study (. . .) has invalidated the idea that there is a singular ‘gay gene’ that influences behavior and sexual orientation” (Karlis 2019); “Its authors hope to bury the notion, popularized in the 1990s, of the existence of an all-powerful ‘gay gene’ that determines sexuality in the way eye color is defined” (Afp 2019). But not everyone, especially the person who is the most interested, is convinced by this reading:

Dean Hamer, a former NIH scientist who led the first high-profile study identifying a genetic link to being gay in 1993, said he was happy to see such a large research effort. “Having said that, I’d like to emphasize that it’s not a gay gene study—it’s a study of what makes people have a single same-sex experience or more,” said Dr. Hamer, now an author and filmmaker. The gene he identified was on the X chromosome, one of the sex chromosomes, a location the new study did not flag as being significant for same-sex sexual behavior. “Of course they didn’t find a gay gene—they weren’t looking for one,” Dr. Hamer said. (Belluck 2019)

Regardless of whether or not the Ganna et al. (2019) study definitely refutes Hamer’s previous line of investigation, researchers strongly differ in their perception of its significance. For some, the study appears as “important,” almost like a new “milestone” for the field. Dr. Kenneth Kendler a specialist in psychiatric genetics at Virginia Commonwealth University, called it “a very important paper that advances the study of the genetics of human sexual preference substantially” (Associated Press 2019). For others, on the contrary, the results made public are uncertain or even more insignificant: “(. . .) the findings are not strong. Studies like this that seek to link genetic patterns to behaviors or disease commonly find dozens if not hundreds of genetic variants, which typically explain far more than the fraction of a percent of the variance that this study found. That leaves Cecile Janssens, a professor of epidemiology at Emory University, puzzled about why this study was even published. ‘I don’t think they found anything that is worth reporting,’ she says” (Harris 2019).

The rapid accumulation of contradictory assessments reveals the lack of internal consensus within the scientific community. From this perspective, we already mentioned that from the outset this study gave rise to controversy within the Broad Institute. Two of the Broad Institute researchers have been particularly vocal. Steven Reilly emphasized that the study brings nothing fundamentally new: “We already knew there was a large heritable component to sexual orientation. We knew that it was a complex thing (. . .) So our understanding has not really evolved” (Allday 2019). Joe Vitti looks even more skeptical as he questions the legitimacy of the study: “As a queer person and a geneticist, I struggle to understand the motivations behind a genome-wide association study for non-heterosexual behavior (. . .) I have yet to see a compelling argument that the potential benefits of this study outweigh its potential harms” (Bever 2019). Within the larger scientific community, Neil Risch, former president of the American Society for Human Genetics, has made public his doubts about the value of devoting public money to fund research on sexual behavior “when other human behaviors—never mind hundreds of heritable diseases—remain underexplored” (Allday 2019).

These two points of controversy are actually hardly surprising and frequently intertwined. What makes this case more original is the addition of a technological level of controversy. One month after the publication of the study, an app store—Gene Plaza—presenting itself as a marketplace for genetic reports released an app named “How Gay Are You?” that purported to gauge a person’s level of attraction to others of the same sex, according to their genes. As described in Wired, “For $5.50 you could download the app, run your genetic data through it, and get a ‘same-sex attraction score.’ If you didn’t already have a file of your genetic data from a company like 23andMe or Ancestry, GenePlaza would sell you a spit kit too. An accompanying essay, written by the app’s developer, Joel Bellenson, began with: A new study published in Science, on 29 August, and based on the genomes of nearly 500,000 people, has blown up the simplistic expectations of a single gene for same-sex attraction” (Molteni 2019).

This is of course not the first app falsely pretending to be predictive, but this one was explicitly based on the results of the Ganna et al. (2019) study. Pressed by the scientific community, the authors obtained the withdrawal of the app, but this did not prevent the beginning of a new phase of controversy. During the 2019 meeting of the American Society of Human Genetics, the authors had to explain their inability to prevent the commercial use of their work despite all the measures put in place. The issue was considered to be all the more sensitive as the developer of the application was located in a country already well known for its official discrimination against sexual minorities. Not only are same-sex relationships illegal in Uganda, with penalties as severe as fourteen years in prison, but many Ugandan lawmakers have sought to increase penalties substantially (for more details, see Bailey et al. 2016). It is not difficult to imagine how the Gene Plaza app could have been used in a country with discriminative public policies such as Uganda.

Once again, we are confronted to the limits of the communicational setup forged by our multidisciplinary team to build genetics of sexual orientation as a “responsible science.” It demonstrates what historians and sociologists of science have frequently claimed: As soon as a scientific theory enters the public space, it acquires a life of its own, and this social and political “malleability” (Meloni 2016) means that scientific findings can be used in many different ways, on a broad spectrum from emancipatory to discriminatory uses.

3. Conclusion

The call for “responsible research” in behavioral genetics has recently emerged from critical comments surrounding GWAS publications (Comfort 2018; Adam 2019). Access to giant collections of biological data combined with increasingly efficient and affordable technology gives the possibility to assess the risk for people to develop specific diseases. It opens a new opportunity to probe the connections between people’s genes and complex traits like sexual orientation. Some underscore the benefits of using these new techniques to design individualized intervention in health care as well as in education, while others criticize the very scientificity of these studies, and, based on historical precedent, warn about risk of misuses that might farther discriminations or inequities. The risk seems all the more real since, as GWAS studies are working with staggering amounts of de-identified data, they are “subjectless.” And as such, they are not compelled to approval by any institutional review boards, hence a real lack of reflection on their ethical or social consequences. As GWAS studies rely on Genomic research, one should not ignore that Genomics is nowadays a data infrastructure on a global scale, unequally regulated around the world with ever-increasing commercial stakes. This global dynamic seems to require more than good intentions and a solid communication strategy.

The Ganna et al. (2019) publication shows an ongoing learning process in the area of social genomics. Some members of the research team participated in 2018 in an earlier GWAS study on the genetics of education (Lee et al. 2018) that already granted special attention to the dissemination of research results (Yong 2018). This effort is to be welcomed, and it is noteworthy that it coincides with the emergence of a science policy framework—Responsible Research and Innovation—that seeks to align scientific investigation and technological innovation with social and public values: “To innovate responsibly entails a continuous commitment to be anticipatory, reflective, inclusively deliberative, and responsive” (Owen et al. 2013). On sexual orientation as well as on education, research teams using GWAS methodology chose to focus on anticipation—intended and potentially unintended impacts—and inclusion as collective deliberation through processes of engagement and debate. But responsible research is not just about impact and communication strategies; it’s also about motives and purposes. Being “responsible” is a relational matter and supposes one to be able to respond clearly to this question: Why is this research on the genetics of sexual orientation scientifically important? If we go through the answers provided by the Ganna et al. (2019) research team in their public communication, the problem is not so much the lack of motives as their profusion. Why do we need this research? (1) Because data are available: “Previous studies were small and underpowered, so we decided to form a large international consortium and collected data for (almost) 500,000 people, (which) is approximately 100 times bigger than previous studies on this topic” (Kelland 2019); (2) because it was inevitable: “It was inevitable that this [study] was going to be done, I thought it was important that we do it in a way with multiple scientific expertise and advocacy groups because that actually enriches the science and hopefully improves public communication of the work” (Abbott 2019); (3) because it satisfies self-curiosity: “Doing science to learn about ourselves is really a feature of what I think motivates a lot of us to be a scientist” (Allday 2019); (4) because it educates people: “I hope that the science can be used to educate people a little bit more about how natural and normal same-sex behavior is” (Belluck 2019); (5) because there’s a market and a social demand: “One of the top requests 23andMe gets from customers relates to understanding how genetics influences sexual orientation and sexual behavior” (Phelan 2019), etc. A simple look at this open list of motives and purposes makes visible the complexity of constructing the notion of responsibility. Should research be responsible before a collective made up of peers, policy experts, associations and activists, and consumers of genetic services? Or a mix of these different actors? And in what proportion? And to what extent should this responsibility entail some form of collective regulation? Obviously by focusing on anticipation and deliberation rather than purposes and motives, the Ganna team has tried to find a balance between inclusion and autonomy: “How we use results like these should not be decided unilaterally by scientists. Those conversations are important and need to happen at societal levels. (. . .) But we should not mix up trying to understand and describe the world to the best of our ability with questions of what we should and should not do to people” (Benjamin Neale, cited by Molteni 2019).

Finally, this case study teaches us something interesting about the social life of genetics. Historians or sociologists have regularly stressed, on the one hand, that genetics has a high public profile and that, on the other hand, this public circulation tends to reinforce a process called “geneticization,” a tendency for people to use genetic explanations to describe differences between individual and group traits and behaviors (Lippman 1991; Hedgecoe 2006). In the light of this general trend, the genetics of sexual orientation appears to be highly specific. So far, as recently recalled by Bliss “the only social group seen to benefit from the use of geneticized explanations and models is the LGB community” (Bliss 2018, 7). This community has used various forms of “genetic essentialism” to emancipate itself from the medical discourses and their correlated attempts of diagnosis and cure. This strategy, that transforms science into a social resource, demonstrates that geneticization is not inherently prejudicial to minorities but can be constructed, in certain circumstances, as an “asset” for social mobilization and empowerment (Dubois et al. 2019). Not only have sexual minorities managed to take advantage of genetic determinism, but somewhat counterintuitively recent attempts from GWAS studies to measure the genetic influence through a composite score, far from reinforcing a hereditary thesis, may ultimately have weakened its social significance. No doubt there is material here for future investigations: It will definitely be important to assess if the new genetics of sexual orientation, and its growing concern about gene-environment interactions, is publicly perceived as accelerating a process of “degeneticization,” rather than “geneticization,” and what might be its consequences for sexual minorities.

Notes

  1. 1. For the full list of authors and affiliations, see https://science.sciencemag.org/content/365/6456/eaat7693.long.

  2. 2. In this 2018 GWAS study on the educational attainment (Lee et al. 2018), Wedow was already working on the implementation of a communication document to guide the public understanding of the findings; see “FAQs about Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences,” https://www.thessgac.org/faqs.

  3. 3. https://senseaboutscience.org/.

  4. 4. https://geneticsexbehavior.info/.

  5. 5. https://www.broadinstitute.org/news/perspectives-complex-genetics-same-sex-sexual-behavior.

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