Preface

In October 1990, the National Institutes of Health partnered with the Department of Energy to begin funding the United States contribution to the international Human Genome Project (HGP). In many ways, the HGP was the first-of-its-kind experiment in “big biology”—a large, highly coordinated, and meticulously managed project that pursued well-described goals and used a team-science approach. The goals included a set of “warm-up” efforts that involved studying model organism genomes followed by the signature endeavor of elucidating the sequence of the roughly three billion bases of the human genome.

While the goals of the HGP were clear, the routes by which to achieve them were painfully uncertain. At the dawn of the HGP, the methods for genome mapping and sequencing were cumbersome and expensive. The sharing of scientific data was inconsistent and often haphazard, typically depending on the idiosyncrasies of individual research communities and investigators rather than on widely adopted norms. As such, the circumstances in the early 1990s provided no clear path for rapidly generating and disseminating high-quality genomic data generated from model organisms or, later, from humans.

Some members of the research community made a number of incorrect assumptions at the beginning of the HGP: the work would be uninteresting and repetitive; there was no need to sequence the entire human genome because of its high content of “junk DNA” (an absurd term that, in retrospect, vividly illustrates the genomic ignorance of the time); and the project’s attention and funding would stifle the innovative nature of investigator-initiated research. Ethicists and philosophers had different concerns, believing that the HGP would lead to a new era of genetic determinism and other problematic associations with genetics.

As the historical, philosophical, and sociological analyses in this collection of papers on the HGP and genomics illustrate, the early concerns about the HGP did not materialize. Rather than stifling investigator-initiated research in genetics and genomics, the HGP produced powerful new methods and datasets that were quickly adopted for use across the biomedical research enterprise, which—in many cases—empowered investigator-initiated research and fostered new collaborations. In fact, the development and ongoing advancement of new genome-sequencing methods have surpassed all expectations, ranking among the top technological marvels of contemporary science. One of the most important legacies of the HGP was the demonstrated value of committing to rapid data sharing, as outlined in the Bermuda and Fort Lauderdale principles; data sharing later became a guiding value for other scientific communities as well. Meanwhile, for over thirty-five years, the Ethical, Legal, and Social Implications Research Program has funded studies to ensure that genome ethics stays ahead of genome science. Finally, far from supporting the notion that one’s genes reflect one’s identity, the data generated by the International HapMap Project, 1000 Genomes Project, Cancer Genome Atlas, Clinical Genome Resource, and other research programs have underscored the overwhelming complexity of genomic variation and its contributions to health and disease.

Despite the spectacular advances in genomics that have occurred since the end of the HGP in 2003, enormous challenges remain for the field that directly relate to some of the project’s original promises. The specific genomic contributions to the vast majority of common, complex diseases are poorly understood; barriers continue to impede efforts to implement genomics into routine medical practice; and insufficient population diversity in past genomics research has slowed progress toward ensuring long-term equitable benefits of genomic advances. Nevertheless, while these challenges underscore how much work remains, the papers in this volume vividly illustrate the remarkable achievements of genomics in its first three-plus decades as a field and provide an optimistic outlook that similarly impressive advances can be anticipated in the coming years.

Eric D. Green

Former Director

National Human Genome Research Institute

U.S. National Institutes of Health