Welcome to the Genome. Michael Yudell
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articles for that. This book offers something more—something useful to you, the consumer—by elucidating today’s genomic information and tomorrow’s genomic medicines and technologies. It is the latter that will, in various ways, greatly affect our lives. Although we may not directly benefit from incredible genetic discoveries, children born today come into the world with the promise that genomics will have a significant impact on their lives, and for their children the effect will be exponentially greater, continuing likewise through the generations.
For us, though, the consequences of genomics will be no less significant. Although we will benefit from early generations of genome‐driven therapeutics, we also face the critical task of struggling with the consequences of these potentially disruptive technologies. We are charged with making sense of the genome’s social, cultural, and economic implications, and with successfully implementing genome technologies. Although lives will be improved and even saved by genomic drugs, our generation’s legacy will be much more than the scientific and medical discoveries it leaves to the twenty‐first century. Our legacy will also be social—meeting the challenge of making genomics technologically feasible—and at the same time humane, just, and ethical. This will be no easy task, particularly from our current vantage point: At present we as a society still remain largely unprepared for the arrival of the genomic revolution. This book was written with these challenges in mind, and with the hope that we can be a part of the continued effort to make the genome truly public.
At the American Museum of Natural History (AMNH), we have worked toward integrating genomics into Museum scientific practice and into our exhibits. Way back in the fall of 2000, as part of its mission to bring cutting‐edge science to the public, the Museum held a 2‐day conference examining the social and scientific implications of the genome. Sequencing the Human Genome: New Frontiers in Science and Technology was the first major public forum to examine the implications of genomics after the release of the draft sequence of the human genome. That is where much of the thinking about this book began. Renowned scientists, including two Nobel Laureates, bioethicists, historians, biotechnology entrepreneurs, and others participated in a variety of lectures and panel discussions. This effort was followed in spring 2001 with the opening of the exhibition “The Genomic Revolution,” the largest and most comprehensive popular examination of the genome to date. Efforts continue through the Museum’s education programs and by expanding the reach of “The Genomic Revolution,” which has traveled to a nearly a dozen sites around the United States in the past decade. In addition, in 2008 the AMNH renovated its Hall of Human Biology (renamed the Spitzer Hall of Human Origins). This renovation project changed the focus of the hall from strictly paleo‐anthropological subject matter to include genomics and genetics of primates and humans specifically. Exhibit material on genomes in this permanent hall includes information on how genomes (including the Neanderthal genome) are sequenced, the similarity of primate genomes, how Neanderthal genomes compare with sapiens’ genomes, and how genetic information can be interpreted to give us an idea of the movement of humans across the planet.
For well over a century the Museum’s halls, replete with fossils, models, and dioramas, have been home to a diversity of exhibitions that, with few exceptions, have centered on objects—exactly the fossils and dioramas that fill the Museum’s galleries. These object‐driven exhibits utilize the charisma of a specimen to engage the visitor. An ancient Barosaurus standing on its hind legs, towering 40 feet in the air does just that in the main rotunda of the Museum every day. Once a visual connection to a specimen is made, the conceptual aspects of an exhibit can be presented. In the case of the Barosaurus, the Museum can discuss a wide range of such dinosaur‐related topics as predation, evolution, and extinction. The specimen draws in the visitor, but precisely because of that charismatic attraction he or she leaves with a much deeper understanding of dinosaurs.
The Genomic Revolution approached the art of exhibition‐making and museum education in a much different fashion. Instead of relying on the allure of an object, the genomic revolution itself, in its abstract and complicated splendor, is what attracted the visitor. The physical specimens were secondary to theories, ideas, and scientific premises. The challenge for the exhibition team lay in translating these difficult concepts into dynamic and decipherable objects that illustrate the genome. To meet this task a team of Museum scientists, experts in the field, and exhibition specialists grappled with the problems for well over a year before delivering “The Genomic Revolution.” Over the past decade the AMNH has undertaken production of an additional two human biology genome‐oriented exhibitions. “Brain: The Inside Story,” which opened in 2012, focused on the new brain research of the twenty‐first century at both the imaging level and the genome level. “The Secret World Inside You,” which opened in 2015, focused on the human micro‐biome, a genome‐enabled research area of human health. Both of these exhibitions used the lessons learned from “The Genomic Revolution” to clearly deliver essential information about human health to the general public. In addition to the exhibitions, the AMNH has expanded its research purview to include the science of genomics and informatics. For instance, in 2015, the AMNH in collaboration with other New York City scientists announced the sequencing of the genome of Cimex lectularius, the bedbug. The dynamics of genome evolution of this insect pest and its distribution in the New York City subway system was examined in this uniquely AMNH study. The striking success of these exhibitions and the importance of genomic research at the AMNH, starting with “The Genomic Revolution,” suggests to us that charisma is not necessarily object based, and for our purposes here, that was encouraging.
For this book, a dinosaur example is again useful. Looking at the Titanosaurus skeleton that stretches the length of the Dinosaur Hall Orientation Center (it's actually so big that the designers of the mounted skeleton replica had to arrange its head to stick menacingly out of the entrance to the hall), our imagination takes us to a prehistoric era when dinosaurs ruled. But for the genome our imaginations are used in a much different way. Genes, neurons, and microbes are, in essence, invisible to us. Imagining molecular processes may be of use to a geneticist or biochemist, but for the rest of us picturing the activities of nucleic acids, DNA, and genes is a challenging, if not futile, exercise.
Figure I.1 The 40‐foot Barosaurus welcomes visitors every day to the American Museum of Natural History in New York City. This amazing specimen immediately draws visitors into the lives of dinosaurs.
Credit: American Museum of Natural History
The charisma of the genome lies instead in its possibilities, not simply in what a molecule of DNA can do, but in what DNA can do for us—its potential to better the human condition and to alter our environment in ways once only dreamed of. Therein lies the public’s fascination with the genome and with other biotechnologies.
Figure I.2 This artist’s conception of a DNA double helix was displayed in the exhibit “The Genomic Revolution.”
Credit: Denis Finnin, American Museum of Natural History
Despite popular and sometimes scientific opinion to the contrary, genes are not the determinative force that many contend or hope they are. Claims of genetic control over intelligence, sexuality, and aggression have come and gone and will come and go again. However, although genes unquestionably contribute to behavioral and medical outcomes, they generally do not govern how we behave or entirely control what diseases we contract or develop. There is a tendency to confuse genetic destiny and genetic potential—a confusion that lies in our changing understanding of gene function. For nearly a century the dominant paradigm in human heredity theory boasted that traits were inherited via single genes (or loci). Scientific support for a one‐gene, one‐trait approach in genetics was, in fact, borne out by many of the genetic discoveries of the twentieth century. It was easy to show, for example, that certain traits are directly