The rediscovery of Mendel's works on heredity in 1900 became the foundation to investigate more on genetics. However, the acceleration of the study of genetics was slow, taking more than half a century later for Watson and Crick to crack the chemical basis of heredity. In fact, their proposal, the double helical structure of DNA, became the beginning of modern biology. Over the next 30 years, the advent of recombinant DNA technology allowed us to sequence specific DNA segments (Collins & McKusick, 2001). Note that mapping specific regions of a particular DNA offers explanations to many traits, including behaviors, disorders, and genetic risks. With these advancements in genetics and the idea that it would accelerate our understanding of our species, it became necessary to map the entire human genome. Although the idea was met with much controversy, the Human Genome Project was born. Essentially, the Human Genome Project is an effort in an international level to map the entire human genome. The project is so vast that it is one of the most expensive large-scale projects, specifically because the human genome consists of 3 billion base pairs (Collins & McKusick, 2001). Still, this audacious undertaking of mapping the human genome is deemed necessary, becoming one of the greatest scientific endeavor offering the most implications to our species.
History and Development
It can be thought of that the history and development of the Human Genome Project can be traced back with the discovery of the double helical structure of DNA in 1953 by Watson and Crick. The discovery of the double helical structure of the DNA paved way for many opportunities in genetics. In 1972, Paul Berg et al. created the first recombinant DNA molecule. During this time, the sequencing of DNA was difficult, until five years later, when Allan Maxam, Walter Gilbert, and Frederick Sanger developed the DNA sequencing methods. Following this event, many biologists began to propose to map the human genome. However, the technology during the time would take such project a very long time, until the discovery of the polymerase chain reaction (PCR) in 1985, which would allow for a rapid amplification of short segments of a DNA. Having this kind of technology, many biologists raced to sequence various DNA segments of many species and viruses. Since the idea of mapping the entire human genome was becoming more imminent, Robert Sinsheimer convened a meeting in 1985 to discuss the prospects and possibility of mapping the entire human genome. Although the meeting did not result to establishing a project or institute on campus, the meeting enthused many notable biologists who, after the convention, expressed the feasibility of sequencing the entire human genome. In fact, many from the convention went to their respective institutions and proposed projects of sequencing the entire human genome. In particular, Charles DeLisi of the Department of Energy (DOE) proposed the DOE Human Genome Initiative, focusing on the advanced technology of DNA sequencing, computer analysis, and methods of cloning DNA fragments from the human genome. DeLisi enthused biologists and sponsorship prospects by organizing a workshop at the Los Alamos National Library in Santa Fe, New Mexico in 1986 (Watson & Cook-Deegan, 1991).
Simultaneously, Renato Dulbecco of the Salk Institute published an article in Science stating that sequencing the human genome would accelerate cancer research to an incredible rate. His idea was voiced out and discussed during a symposium headed by Walter Gilbert and Paul Berg. Series of actions from Gilbert, Dulbecco and Berg led to the initiative of the National Institute of Health (NIH) to participate in creating a large-scale project focusing on sequencing the entire human genome. Finally, in February of 1988, the National Research Council (NRC) launches the Human Genome Project (HGP), with the project listed as joint between the DOE and NIH (Watson & Cook-Deegan, 1991).
Impacts of HGP on Different Aspects Today and in the Future
Tracing Ancestry through Genetics
However, not all of the 3 billion base pairs will be translated to proteins; non-coding exons take up a large portion of the DNA. In this case, the HGP aims to fully sequence the DNA of other species, such as rat and zebrafish, to determine the coding exons. Cross-referencing between the genes of two different species has the potential to identify the gene expressions. In this case, the HGP allows for the identification of the behavior controlled by the genes of not only the humans but also other species.
Furthermore, the HGP, aside from determining the coding exons, sequence the genome of other species, which can be used to determine the ancestral origin across species (Collins & McKusick, 2001).
Medicine
A notable – and practical – implication of mapping the entire human genome is within the field of medicine and genomics. Many human disorders are influenced by genetics; a person’s genetic composition is a major factor in the development of certain disorders, such as depression, Huntington’s, etc. By locating the genes responsible for the development of these disorders, doctors and biologists will have the ability to quantify the genetic risks of a person to develop specific conditions (Collins & McKusick, 2001).
In the future, predictive genetic testing will allow for early diagnosis and prevention. More notably, investigating the genes responsible for certain disorders allows scientists to develop effective small-molecule drugs to regulate the disease-related pathways to the ideal direction (Collins & McKusick, 2001). Furthermore, the predictive genetic testing will also be used as a tool to investigate the genetic risks of a patient. As a consequence, doctors can recommend a suitable lifestyle for specific patients after genetic testing.
Technology
One other relevance of the HGP is its factor in the acceleration of genomic-scale technologies. When the project started, the HGP emphasized the need for the development of new technologies. As mentioned above, the sequencing of the DNA of many species was performed using the gel-based Sanger dideoxy sequencing. As the project progresses, the HGP cooperated with various centers to develop creative innovations that later reduced the rate-limiting steps of the sequencing method in a large-scale basis, such as the sequencing machines from Amersham and ABI (Collins, Morgan & Patrinos, 2003).
Negative Impacts of HGP on Society
However, not all agrees with the implications of the HGP. Ethical issues regarding the investigation of the human genome have the ability to intervene and decelerate the advancement of human genome sequencing. As mentioned before, sequencing the human genome will determine the genes that code for specific traits, which can prove detrimental to social paradigm (Collins & McKusick, 2001). Effective gene-therapies and effective small-scale drugs, as well as predictive genetic testing, will be more accessible to the wealthy, thus creating a larger gap between the rich and the poor.
Ethical Implications of HGP
Moreover, a central argument against HGP is that the success of HGP will get humanity closer to “playing God” by altering the genes of a newly fertilized egg to create an “ideal baby.” To be specific, the success of HGP, together with a successful recombinant DNA technology, can be used to create an idealized person, i.e. strong, aesthetically appealing, healthy, and intelligent. Needless to say, provided that there are existing restrictions to these actions, the success of HGP shall be focused on medical purposes only.
References
Collins, F.S., & McKusick, V.A. (2001). Implications of the Human Genome Project for Medical Science. JAMA, 285 (5): 540-544.
Collins, F.S., Morgan, M., & Patrinos, A. (2003). The Human Genome Project: Lessons from Large-Scale Biology. Science, 300 (2): 286-290.
Watson, J.D. & Cook-Deegan, R.M. (1991). Origins of the Human Genome Project. FASEB Journal, 5 (1): 8-11.
