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The Human Genome Project (HGP) was a multinational, 13 year long project aimed at identifying the genes 0.1within the deoxyribonucleic acid (DNA) within human cells, together with related technical issues. The goals of the project were to identify and specify the 20,000-25,000 genes in human DNA, determine the sequence of the approximately three billion chemical base pairs within that DNA, and find a way of storing this information in a suitable database for which appropriate analytical and data transfer tools are made available. The HGP also aimed to address the numerous ethical, legal, and social issues (ELSI) that were brought about by the project and by the management and ownership of its findings. The U.S. Department of Energy and the National Institutes of Health in the United States led the effort, with the Wellcome Trust in the United Kingdom, and partners in Japan, Germany, China, France, and other countries. The HGP required considerable computational capacity and logistical management and was completed in 2003.
Prior to the launch of the HGP, considerable skepticism was expressed concerning the practicability of completing it, even though the value of the possible output was grasped early in the process. Technology had not yet progressed sufficiently for the genetic sequence of a much simpler organism such as a bacterium to be mapped. However, early proponents such as Walter Gilbert and Robert Sinsheimer were convinced that the project was both possible and necessary, and that the key was not so much in the complexity of the problem, but in organizing a sufficient amount of computing power and organizing networks of researchers to carry out the work in tandem. Managing this required not just organizational skill, but also the ability to persuade small and often fiercely independent research laboratories to work together and to share their results. This method of working was radically different from the usual competetion and pressure to maintain secrecy about their progress.
The commercial applications of the research intensified these concerns. Further, it was necessary to overcome the resistance felt by many that research is best undertaken through providing opportunities and incentives for individual scientists and their support teams to come up with projects on a bottom-up basis, rather than the large-scale, public sector mandated and top-down approach that was successfully managed. This international collaboration provided a model for using distributed facilities (computer-linked, but geographically-remote locations, each with their own responsibilities) to tackle large-scale projects. Even so, numerous interpersonal and interorganizational conflicts occurred during the project and overcoming these required extensive negotiation.
Prickly Property Rights
Among the many thorny ELSIs, perhaps the most contentious has been that of property rights as resulting from the output of the HGP. An important principle within scientific research and intellectual property rights is that the first individual or team to publish in a reputable medium or in some other credible manner announce results has a claim to ownership of those results in any subsequent commercial exploitation. Yet, every person in the world has genetic information embedded within them. Concerns are raised regarding the possible ethical implications of ownership of such information and, particularly, with the exploitation of the knowledge in the future to enable health interventions that are not yet possible.
The HGP aimed to identify human and mouse genetic material in parallel, as well as some bacterial organisms, in order to broaden the methodological and statistical content available. As effective methods of identifying genes has improved, the attention of researchers has been increasingly taken by creating methods of using the data in profitable applications, rather than simply completing the task.
One issue that was persistently difficult to resolve was the fact that individual genetic units were identified in a partly random fashion, which meant that gaps existed between those blocks of data that were identified, and those that emerged. Identifying the remaining data blocks to form contiguous chains was a complex undertaking that prolonged completion of the project. The HGP has been one of the most important scientific undertakings ever, for the scale and scope of its goals and the ways in which it encouraged people to work together. The production of commercial applications, however, is likely to break up many of those partnerships.
- Bita Amani and Rosemary Coombe, “The Human Genome Diversity Project: The Politics of Patents at the Intersection of Race, Religion, and Research Ethics,” Law and Policy (v.27/1, 2005);
- Francis Collins, Michael Morgan, and Aristides Patrinos, “The Human Genome Project: Lessons from Large-Scale Biology,” Science (v.300/5617, 2003);
- Edwin McConkey, How the Human Genome Works (Jones and Bartlett Publishers, Inc., 2004);
- Leslie Roberts, “Controversial from the Start,” Science (v.297/5507, 2001).