The Human Genome Project has completed its monumental mapping of the genetic sequence in human DNA, and the field of genomics is taking advantage of these initiatives and innovations in technology to pursue scientific inquiries that could not have been imagined just a few years ago. More importantly, perhaps, new applications are being discovered based on the growing body of scientific evidence being developed by this emerging science. To determine what genomics is and how it is being used today and may be used in the future, this paper provides an overview of the biochemistry involved in the study of genomics, followed by an analysis of current and future trends in this field. A summary of the research will be provided in the conclusion.
Review and Discussion
Background and Overview.
Today, genetic-engineering techniques are increasingly being applied to a growing number of life forms, including insects, farm animals, marine organisms, trees, and even human beings. According to Kelso and Schurman (2003), "Perhaps more important, technology development has been revolutionized -- and greatly accelerated -- by the advent of genomics and the synergies that have emerged between molecular biology, recombinant DNA techniques, and the bioinformatics sector" (p. 4). In the spirit of "we all stand on the shoulders of the giants who go before us," these recent breakthroughs in genetic engineering can be traced to the discovery by scientists James Watson and Francis Crick in 1953 when they described the double helix shape of DNA, the building blocks of all life (Genome news, 2003).
During the years thereafter, it was still necessary to convince Congress that the genome should be mapped; at that time, James Watson and others predicted that one day soon, a complete text that would explain "who we are" would be completed. In fact, in April 2003, just 50 years after their discovery, though, the Human Genome Project was completed -- more than 2 years ahead of schedule, with fully 99% of the human genes successfully identified (Genome news, 2003). According to Dooley (2004), "With its sequencing completed in 2003, scientists set their sights on determining the basic structure and inner workings of the human genome. This movement has spawned numerous new scientific specialties that have been supported by the growth of data-generating technologies. One of these interdisciplinary fields, functional genomics, is devoted to linking gene expression to function (or dysfunction) in cells, organs, and tissue" (934). Despite these advances, though, as Watson and other leading genomics scientists have pointed out, genomics is in practice exceedingly complex, and any interpretations of the findings that result from these investigations will be necessity be equally complicated. The New York Times of June 27, 2000, highlighted the successful cracking of the genetic code on its front page, but the headline of the "Science Times" section was more realistic about what was ahead for the scientific community: "Now the Hard Part: Putting the Genome to Work" (Goodman, Heath & Lindee 16).
Not surprisingly, genomics-based initiatives remain the focus of much research into how these findings can be applied to an enormous range of human endeavors -- including reshaping these fundamental building blocks of the human animal, a fact that has not escaped the attention of medical ethicists who suggest that such research is violative of the sanctity of nature's sole domain. Notwithstanding these controversies, though, the fact remains that genomics is a growing field and new applications are being identified every day that will have a profound impact on mankind in the future. To better understand what the issues under debate are, an examination of the biochemistry of genomics is provided below.
Biochemistry of Genomics.
All genes contain DNA, or the series of chemicals that determine all aspects of an individual's characteristics, and genomics seeks to determine how and why genes function they way they do; however, the field of genetic engineering uses a wide range of methods that employ a number of similar yet different terms, but all of them come into play in the field of genomics. In this regard, genomics has been defined as the field of automated sequencing and analysis of genes; bioinformatics refers to the inference of genes' functions from information about known DNA sequences in other organisms; and proteomics refers to the science of protein functions and their relationship to genes; however, all three of these fields rely heavily on the new information technologies (Kelso & Shurman, 2003). In addition, the field of genomics is, by definition and function, interdisciplinary (Winter, 2001).
The emergence of these new sciences and their application to plant and animal genetic-engineering research have also created entirely new barriers to entry into the agricultural biotechnology industry that could not be foreseen just a few years ago; nevertheless, even ardent advocates of genomics-based medical applications today are beginning to recognize how mistaken the view is that one gene leads to one enzyme and there to just one disease, but rather the process is convoluted and still better described than understood (Sapp, 2003).
According to Winter (2001), many genomics researchers rely heavily on mice for research as mice represent the perfect model for studying functional genomics; in other words, what functions genes actually perform and how their activities are regulated. In this regard, Winter notes that, "It [mouse] is the only mammal in which genes can easily be removed or added, allowing researchers to tailor-make animals with the particular DNA they are interested in. Let's say that a scientist suspects a particular gene is involved in the process of a metabolic link to tumor development. With the mouse they can turn that gene on and off and see what happens" (Winter, 2001, p. 2). The findings of this genomics research is readily applicable to humans as well; in fact, one of the more important contributions of genomics in recent years has been the finding that all mammals share a common set of genes, allowing, for the first time in history, discoveries from one mammal to be directly translated and interpreted in other mammalian species (Winter, 2001). This author adds that, "Ninety-eight percent of the human genes are conserved to the mouse so that at the genetic level mice and humans are very similar. Likewise the general biochemical processes -- regulatory mechanisms and metabolic pathways -- are highly conserved so these animals are excellent models for human diseases" (Winter, 2001, p. 2). Clearly, given the trends over the past half century and the enormous investments made, it is reasonable to speculate that the emerging field of genomics is going to play an increasingly important role in human affairs in the future and these issues are discussed further below.
Implications of Genomics Research for the Future.
Taken together, the foregoing trends suggest that genomics is an emerging field that is part of a wave of new research into how the human body works at the molecular level. Kelso and Shurman suggest that, "If the large-scale investments that the private and public sectors are making in these areas are any indication, genomics, bioinformatics, and proteomics are clearly the wave of the future" (7). The new field of bioinformatics includes innovative techniques that can be used for comparing genetic and protein sequences, thereby providing researchers with methods for comparing genomes of different species (Goodman et al. 180). In this regard, the Human Genome Project has been rationalized in terms of its potential benefits for a wide range of applications and this same rationale has also been applied to microbial genomics, at least at first, with an intention of developing microbes for specific practical purposes (e.g., medical, agricultural, or industrial); however, Sapp suggests that there is also much deeper and more fundamental rationale for pursuing this initiative: "Humans are stressing the biosphere, and soon a day would come when a deep knowledge of the biosphere and its capacity to adapt would be critical" (Sapp 227). Furthermore, Sapp believes that more microbial genomics is required in the future to explore microbial diversity, to understand the interaction between microorganisms and their environments, and to reveal their evolutionary dynamics in ways that might help humans adapt to a harsher and unpredictable climatic environment in the future. Given the recent trends in hurricanes and global warming forecasts by many experts today, this research may not be a second too soon.
A leading professor of human genetics, Dr. Gilbert S. Omenn, believes that, "Breakthroughs in biology are changing our world. Just as chemistry and physics had broad ramifications in the preceding centuries, the New Biology unleashed by the Human Genome Project and associated developments will send ripples through many aspects of 21st-century life and will be influential in improving the health of the public" (43). Based on his investigations to date, Dr. Omenn suggests that the challenges and opportunities presented in Table 1 below are the most important today:
Table 1. Critical challenges and opportunities for genomics and public health officials.
Strengthen prevention in the public health/clinical medicine continuum