Abstract
Postgenomics reveals the unruly nature of its topic by the wide variety of its contributions. Sarah S. Richardson and Hallam Stevens have assembled a stellar group of authors who ably review assorted aspects of the field. Across twelve chapters, they discuss the scientific contributions of the Human Genome Project (HGP), the lateral transmission of genes, the development of new techniques for analyzing genetic data, and the many scientific approaches that now characterize the field, from the study of networks to new conceptions of the environment. The chapters are uniformly lively and engaging.
But the sum total of the contributions is a book that reveals the dissipated nature of the field. Part of the problem reflects the term itself. The term postgenomics is certainly prevalent, but its usage is hardly uniform. Several chapters attempt a definition, but there’s little agreement. At the outset Chapter One seeks to overlay some cohesion and correctly points out that the term is used differently in different disciplines. For biologists the term reflects new approaches to the study of complex transcription problems. For social scientists it reflects a historical moment: what has happened since the completion of the HGP. For others the term only reflects a move away from simplistic views of genetic causality toward a more complex and holistic approach.
Remarkably, though, the book as a whole questions much of what makes postgenomics postgenomics. Some authors seem unaware of what the term means to others. As a result the chapters are often in conflict with each other, if never quite in dialogue. Several chapters, for example, note that abandoning a crude version of genetic causality has provided an opportunity for more complex gene-environment models and has, thus, led to an appreciation of contingency. To this point, the tone is often one of a chastened reckoning with past mistakes, especially in the chapters focusing on biology. Yet several other chapters note the enduring instinct to seek reductive explanations. Although strict genetic determinism has perhaps abated, it has been replaced by new epistemic blinders and, indeed, new forms of determinism. Sarah S. Richardson’s contribution, for example, highlights the new enthusiasm surrounding the developmental origins of disease, which casts no less of a deterministic character in its emphasis on programming.
Other chapters question what to admit as a transformative insight. Virtually all the chapters agree that the HGP overpromised and underdelivered—that informs the very definition of postgenomics. Yet some authors appear to have quickly moved on to the next best thing. This problem is embedded even in adjacent chapters. In their introductory chapter, for example, Stevens and Richardson note the controversy surrounding the Encyclopedia of DNA Elements project (ENCODE). ENCODE sought to uncover all the functional elements of the genome, not just those related to protein coding, thereby unpacking what purpose the great mass of so-called “junk DNA” served. Although ENCODE claimed success in this regard—reporting that over 80 percent of human DNA served some function—skeptics promptly responded that the project succeeded only because it employed a much looser definition of “function.” In this way, Stevens and Richardson emphasize the unsettled nature of the science—even illustrating the “outrage” (p.5) with which some scientists greeted the project—but in the very next chapter Evelyn Fox Keller emphasizes ENCODE’s positive and seemingly unequivocal reception. She, in contrast, characterizes the study as “effectively putting the kibosh on the hypothesis that noncoding DNA lacked function” (p.18).
A similar dissonance emerges in other chapters. What some authors choose to emphasize as exciting new directions, others interpret as attempts to snatch victory from the jaws of defeat. For instance, the postgenomics era has been characterized by a growing interest in endophenotypes, regarded as broader and more manageable units for understanding heritability. Aaron Panofsky, however, interprets the rise of endophenotypes as a strategy to recapture the influence of genes after the failure to demonstrate much genetic influence over smaller-order phenotypes, as when research moves from studying schizophrenia to studying poor working memory. He describes this scientific move as one of several forms of “coping” (p.161) that science has employed to deal with the failure to deliver big results.
Dissonance also pervades the book’s many discussions of where to go next. Some chapters emphasize the importance of integration between disciplines, especially in the presence of pervasive gene-environment interactions. When gene-environment interactions are the norm and so much attention has heretofore focused on genes, unpacking the environment is the most important next step.Yet how to do this is remarkably unclear. For some, it is fundamentally a methodological challenge that will yield to a data-driven approach. Adrian Mackenzie, for example, highlights the opportunities of machine learning for understanding complex causal processes. In the same vein, Rachel A. Ankeny and Sabina Leonelli discuss the challenges and opportunities in organizing genetic data. For others, though, moving forward is less a matter of technique and curation than of refining the concept of the “environment” in more tractable ways. Yet this move has paradoxically narrowed the scope of research just as it was beginning to open up.Sara Shostak and Margot Moinester discuss how for many scientists the “environment” has been reduced to the body’s internal chemical environment, effectively returning the literature to a biological approach. The gravity of earlier styles of thought is strong after all.
Over the course of the book, the term “postgenomics” itself is unpacked into more manageable units. Some question whether the science is “post” anything, noting that the study of epigenetics, while very hot at the moment, is actually quite old. Some authors choose to downplay the historical connotations of “post” and highlight simply the move from speaking of “genetics” to speaking about “genomics.” Others splice the term even more and highlight the whole array of new “omics” that characterize the study of genes, refusing to invoke the term postgenomics in any specific way. Catherine Bliss, for example, discusses the proliferation of “omics” following the mapping of the human genome. As a way to characterize these developments, “postgenomics” might not work even as an umbrella term.
For readers of the volume all this uncertainty and circumspection might be frustrating. There is little here to point to a core agenda going forward. Readers looking for deep reviews of specific topics, like epigenetics, will have to use other volumes in concert with this one. Yet whether a reader regards this situation as unsatisfying likely depends on what the reader saw as promising about genetics in the first place. One clear implication of the volume is that the study of the genome—its operation, its cultural meaning, its complexity—is wide open for input and innovation. If anything else, postgenomics is a new science with porous boundaries and few rules. The fact that it has yet to produce much about which researchers can agree makes it vibrant, albeit perhaps in a different way than what researchers anticipated in the pregenomic era. The current frisson of the field is less in anticipating a fully satisfying model of human behavior—we at least appear to be post that idea—but in the development of many rich and generative niches. That might not be where we expected to be when the mapping of the human genome was complete, but scientific evolution has little respect for our wishes.