The Postgenomic Condition

Ethics, Justice, and Knowledge after the Genome

Jenny Reardon

• Publisher: University of Chicago Press
• Year: 2017
• ISBN:
  9780226345192
• Topic: Biological Sciences
• Subtopic: Science General
• Index: Biological Sciences

Now that we have sequenced the human genome, what does it mean? In The Postgenomic Condition, Jenny Reardon critically examines the decade after the Human Genome Project, and the fundamental questions about meaning, value and justice this landmark achievement left in its wake.Drawing on more than a decade of research—in molecular biology labs, commercial startups, governmental agencies, and civic spaces—Reardon demonstrates how the extensive effortsto transform genomics from high tech informatics practiced by a few to meaningful knowledge beneficial to all exposed the limits of long-cherished liberal modes of knowing and governing life.Those in the American South challenged the value of being included in genomics when no hospital served their community.Ethicists and lawyers charged with overseeing Scottish DNA and data questioned how to develop a system of ownership for these resources when their capacity to create things of value—new personalized treatments—remained largely unrealized. Molecular biologists who pioneered genomics asked whether their practices of thinking could survive the deluge of data produced by the growing power of sequencing machines. While the media is filled with grand visions of precision medicine, The Postgenomic Condition shares these actual challenges of the scientists, entrepreneurs, policy makers, bioethicists, lawyers, and patient advocates who sought to leverage liberal democratic practices to render genomic data a new source of meaning and value for interpreting and caring for life.It brings into rich empirical focusthe resulting hard on-the-ground questions about how to know and live on a depleted but data-rich, interconnected yet fractured planet, where technoscience garners significant resources, but deeper questions of knowledge and justice urgently demand attention.

1

THE POSTGENOMIC CONDITION

An Introduction

What I propose, therefore, is very simple: it is nothing more than to think what we are doing.

—Hannah Arendt, The Human Condition

That life is complicated may seem a banal expression of the obvious, but it is nonetheless a profound theoretical statement—perhaps the most important theoretical statement of our time.

—Avery F. Gordon, Ghostly Matters

“I believe one day in the not-so-distant future, every person on the planet will have their genome sequenced.”1 So Robin Thurston predicted on July 12, 2016, as he assumed the helm of Helix, a San Francisco–based start-up company that aspires to be the “app store” for genomics.2 Helix is among a handful of powerful players that today seek to convince people to spit into cups in order that a company, a university, or the state might sequence their genome. Apple, Google, and many federal governments around the world today all have plans to recruit millions—even billions—into the genomic age.3

Will they succeed? What exactly would an app store for my genome contain? An algorithm to tell me what percent Neanderthal I am, how related I am to anyone else, or what my risk of a disease might be? Would I, could I, pay to play?

Two weeks after Thurston’s prediction of a not-too-distant future filled with sequenced human beings, an article in the Journal of the American Medical Association indicated that he might face a hard sell. Its authors asked: “What happens when underperforming big ideas in research become entrenched?”4 Their first example was the idea that a few genetic variants can explain the causes of common diseases. The notion that common genetic variants link to common diseases, the Common Disease–Common Variant (CD-CV) hypothesis, fueled initial optimism about the power of genomics to transform medicine, yet today few such variants have been found.5

During the final decades of the last century, national governments, scientists, and entrepreneurs invested tremendous public and private resources into the idea that the human genome sequence contained the blueprint of life, one that could guide humans into a peaceful and prosperous new millennium. In June 2000, then US president Bill Clinton announced from the East Room of the White House the publication of the rough draft of the human genome, what he described as “the most important, most wondrous map ever produced by humankind.”6 Medicine would be transformed. Cancer would be cured.7 Racial ideologies that had torn families apart and killed millions over the course of the twentieth century would be defeated.8

Yet despite these high-profile public pronouncements, genome scientists knew a hard road lay ahead. They might have produced what they and others referred to as “the book of life,” but reading it posed difficult challenges.9 Over three billion nucleotides—adenines (A), guanines (G), cytosines (C) and thymines (T)—make up the human genome sequence. In 2008, when I visited the Wellcome Trust in London, a major funder of the public effort to sequence the human genome known as the Human Genome Project (HGP), I found 118 books on bookshelves, each one thousand pages long. These books offered me the chance to “read” the human genome sequence.

I remember flipping through their pages, bewildered. What struck me most were the stretches of dashes, regions of the human genome too repetitive for sequencing technologies to decipher. These dashes meant as much to me as the alphabet soup on the other pages.

I was not the only one puzzled. As the jubilation surrounding the completion of the HGP in 2003 ended, a question—at once sobering and exciting—moved to the fore: Now that we have “the human genome” sequence, what does it mean? Tremendous feats of biomolecular engineering produced the sequence. However, what was the route between this technological feat and meaningful knowledge that might foster life and human understanding? In the decade after the completion of the HGP, this turn to the question of meaning—the question of the uses, significance, and value of the human genome sequence—marks what I call the postgenomic condition.

Despite its greater import, this task of interpretation that came after the completion of the HGP has generated far less attention.10 Perhaps this is because there are no clear heroes and villains.11 Unlike the popular accounts of sequencing the human genome, the story of the efforts to interpret it cannot be told as one of scientific giants battling over good versus evil. These efforts are about a much wider range of lives, and a far more diverse range of issues that do not resolve along clear lines that demark good from bad, public from private. They reveal less about the psyches of those heralded as the “great men” of science and more about the conditions of contemporary life.12 Drawing on the trust I have built over the last twenty years—first working in molecular biology laboratories and then chronicling the emergence of human genomics—in the chapters ahead I share stories that bring the reader into these much richer spaces where the meanings and values of genomic data are being forged.

Courtesy: Russ London’s photograph of the Human Genome in the “Medicine Now” room at the Wellcome Collection in London.

As we will see, they are stories of these times—times of great promise and despair, wealth and deprivation—in which people around the world are raising questions about how to know meaningful life on a data-rich but environmentally depleted, and interconnected-yet-fractured planet. In 2006, home prices in the United States began to plummet, and in 2008 the world experienced a financial crash followed by several years of recession.13 In 2016, the political infrastructures at the heart of twenty-first-century Euro-American aspirations of peace and free movement experienced ominous blows: the United Kingdom voted on June 23 of that year to leave the European Union; on November 8 the United States elected a president who promised to deport millions and to build a wall along the Mexico and United States border to keep others out.14 In the wake of these dramatic and largely unanticipated events, many are asking about the value of things that have long been central to conceptions of the good life, at least in the Euro-American West. What is the value of owning a home? Of investments? Of education? Of government itself? And, importantly, who can answer these critical questions? Anxieties in the current moment are generated not only by the fall in value of these things long viewed as central to security and prosperity, but also by growing distrust and discontent with those entrusted with answering these important questions about value and worth.15

Some have diagnosed the problem as post-truth politics. While “willful distortion” continues to plague efforts to right the ship of democratic governance, I argue that there are more pervasive problems that are not so easily grasped or rectified.16 As I finish writing this book on the European continent, daily there are reports of political turmoil and attacks. In the United States, racial tensions are at their highest in years as police shootings of black men tear at the moral and political fabric of the nation.17 For many, the central concern is not that leaders lie, but that the world itself does not appear to support or respect the lives of too many. This is not a problem of distortion; it is one of constitution.18 How is this world put together? Who and what gets to live and prosper in it?

It is my contention that in these times as we rightly turn our attention to correcting falsehoods, we must also attend to the problem of deciding which elements of this troubled world-in-need deserve our all-too-limited energies.19 Which should be matters of our care and concern? Which should become the stuff of the truths that ground our systems of law and governance?20 There is, I suggest, a growing sense that dominant liberal institutions of the Euro-American West have ignored too much as they have invested vast resources into knowing and caring about a few things—many of which, like genomes, require investments in high-tech sciences.

The Human Genome: A Thing of Value?

The question of the meaning and value of the human genome is but one instantiation of this broader questioning of the capacities of dominant liberal modes of knowing and governing. Although a perhaps unlikely place to begin an exploration of such fundamental issues, questions of value, trust and truth long have been formative in human genetics and genomics. Human geneticists’ role in legitimizing eugenic policies of sterilization and immigration restrictions, as well as Nazi invocations of genetic theories during the Holocaust, left many worried that any effort to look to genes for explanations threatened to either end or undermine the value of the lives of too many.21 For decades, to study human genetics meant living with this legacy, and responding to these concerns.22 Human geneticists took part in United Nations–sponsored deliberations about the appropriate meanings and uses of their studies.23 They changed the names of their journals and professorial chairs, purging the words eugenics and sometimes race.24 They invested in developing molecular techniques that they believed offered more objective analyses that could protect their research from social bias.25

In the wake of these reforms, some geneticists began to reinvest in studies of human genetic differences. Most prominently, in 1991 human population geneticists proposed the Human Genome Diversity Project.26 The Diversity Project’s proposal to collect DNA samples from so-called vanishing indigenous populations immediately sparked widespread concerns.27 Indigenous rights advocates dubbed it the Vampire Project. Biological anthropologists worried that the proposed initiative would re-import colonial imaginaries into human biology.28 Despite decades of efforts to address concerns, their critiques demonstrated that the anxieties surrounding human genetics lay barely below the surface.

The 1994 publication of The Bell Curve: Intelligence and Class Structure in American Life further demonstrated the ongoing salience of these concerns. In this New York Times best seller, American psychologist Richard J. Herrnstein and American political scientist Charles Murray argued that a “large genetic influence” on IQ was “irrefutable,” and that racial differences in IQ were similarly undeniable.29 The book, labeled “the publishing event of the decade” by the influential US think tank the Brookings Institution, set off widespread concerns that societal investments in human genetics might once again justify public abandonment of racially marked groups.30

Worried that these controversies might taint the HGP and sink human genomics before it even began, leaders of the initiative drew clear lines between their effort and analyses of human genetic diversity.31 The HGP, they argued, sought to sequence one human genome, not the many that the Diversity Project proposed; it aimed to improve the medical treatment of individuals, not to make claims about human populations, as The Bell Curve did. However, as the sequencing of the human genome neared completion in the late 1990s, leaders of the HGP at the National Human Genome Research Institute (NHGRI) significantly changed their position. While comparing the human genome sequence to the sequences of other species—such as the mouse and the platypus—might reveal some things about human evolution, the possibility of genomic understandings of human disease necessitated understanding how human genomes differ.32 Thus, even before the Human Genome Project came to an official close, the NHGRI initiated an effort to collect samples from different populations from around the world—what would become known as the International Haplotype Map Project (or HapMap, about which we will learn much more in the pages to come).

Leaders at the NIH knew the HapMap would take them into ethically fraught terrain. Acknowledging this, in an unprecedented move they brought ethicists into the planning of the project at the very beginning.33 Further, they pursued an overtly positive approach. While they did not deny the potential for new forms of discrimination, they emphasized the liberating potential of their efforts. Far from the totalitarian and eugenic associations of twentieth-century human genetics, they promised a new science of human genomics that would be at the vanguard of twenty-first-century antiracist democratic societies and sciences. This new science of genomics would demonstrate that race had no biological meaning.34 It would forge new kinds of relationships with research subjects that emphasized their inclusion and participation in the whole process of research.35 Researchers would not just collect blood and leave. They would stay and “give people in the communities . . . an opportunity to share with investigators their views on the ethical, social and cultural issues . . . and to provide some input into the way their samples would be collected and described.”36

The Rise of Genomic Liberalism

Efforts to secure the meaning and value of human genome sequence data through creating a participatory, inclusive, and open genomics—what I call genomic liberalism—made for an exciting decade both scientifically and politically. While liberalism is a heterogeneous political tradition with both equalitarian and hierarchical strands, one of its core concerns is that concentrated power corrupts and so government should be limited and power shared with the people.37 This core commitment to share power guided the efforts of HapMap leaders as well as the many others who over the decade sought to make the human genome meaningful for broad publics. Foregrounding these modern liberal democratic values of inclusion and participatory governance in what previously had been largely a technocratic expert arena led to nothing short of a remarkable turn of events, one that generated much hope for more just forms of science and technology. Linda Avey, co-founder of personal genetics company 23andMe, called for the end of the “feudal system” in which researchers held all the power.38 George Church of Harvard University foresaw radically opening up the doors of human genetics and molecular biology so that not just scientists, but all people, could ta...