The Human Genome Project

The human genome is the total of all the genetic information in a human cell. The genome is the blueprint or plan for the human organism. Two separate groups — one funded by US taxpayers, one funded privately — substantially completed the sequencing of the human genome in 2001. The completion of the human genome opens up a new world of potential therapies and insights into human disease.

Description of a Genome

A genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome—more than 3 billion DNA base pairs—is contained in all cells that have a nucleus.

Video Overview of the Human Genome Project (courtesy of Genome.gov)

Goals

The main goals of the Human Genome Project were to provide a complete and accurate sequence of the 3 billion DNA base pairs that make up the human genome and to find all of the estimated 20,000 to 25,000 human genes. The Project also aimed to sequence the genomes of several other organisms that are important to medical research, such as the mouse and the fruit fly.

In addition to sequencing DNA, the Human Genome Project sought to develop new tools to obtain and analyze the data and to make this information widely available. Also, because advances in genetics have consequences for individuals and society, the Human Genome Project was committed to exploring the consequences of genomic research through its Ethical, Legal, and Social Implications (ELSI) program.

Two Human Genome Projects

Initiation of the publicly funded Human Genome Project was the culmination of several years of work beginning in the 1980s. The research funding was started in 1990 by the U.S. Department of Energy and the U.S. National Institutes of Health, and was expected to take more than 15 years. In addition to the United States, the international consortium included geneticists in Canada, China, France, Germany, Japan, and the United Kingdom.

The public human genome project got off to a slow start, in part because of the technical approach that was chosen.

In the late 1990s a parallel, privately funded human genome project was begun by a company called Celera Genomics, founded and led by an iconoclastic scientist named J. Craig Venter. Although, these two projects competed initially, eventually they shared their data and published papers reporting on the human genome at the same time .

The Cost

The private project was funded by Celera Genomics, Applied Biosystems, and Hewlett-Packard and was estimated to cost less than 500 million dollars. The publicly funded effort cost over 4.5 billion dollars over the years 1988-2003.^[1]

Importance

The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person. As researchers learn more about the functions of genes and proteins, this knowledge will have a major impact in the fields of medicine, biotechnology, and the life sciences.

Results

Unlike simpler organisms like bacteria and yeast, the human genome is not easily defined. Much of the DNA in human cells is non-coding DNA or "junk", other parts are repetitive regions that repeat the same DNA sequence over and over. For these reasons it is difficult to define when the human genome is completely "done". A working draft of the human genome was announced in June 2000, and the data for about four fifths of the genome was released.^[2][3] President Bill Clinton issued a press release about the genome.^[4]

In April 2003, the Human Genome Project announced that it had completed a high-quality sequence of essentially the entire human genome. This sequence closed the gaps from a working draft of the genome, which was published in 2001. It also identified the locations of many human genes and provided information about their structure and organization. The Project made the sequence of the human genome and tools to analyze the data freely available via the Internet.

In addition to the human genome, the Human Genome Project sequenced the genomes of several other organisms, including brewers’ yeast, the roundworm, and the fruit fly. In 2002, researchers announced that they had also completed a working draft of the mouse genome. By studying the similarities and differences between human genes and those of other organisms, researchers can discover the functions of particular genes and identify which genes are critical for life.

In 2007, the most complete version yet of a human genome — the genome of J. Craig venter himself — was published.^[5]

Benefits

Rapid progress in genome science and a glimpse into its potential applications have spurred observers to predict that biology will be the foremost science of the 21st century. Technology and resources generated by the Human Genome Project and other genomics research are already having a major impact on research across the life sciences.

Some current and potential applications of genome research include

• Molecular medicine
• Energy sources and environmental applications
• Risk assessment
• Bioarchaeology, anthropology, evolution, and human migration
• DNA forensics (identification)
• Agriculture, livestock breeding, and bioprocessing

Ethical, Legal, and Social Implications (ELSI)

A lot of concern was generated about the human genome project. The publicly funded project spent over 90 million dollars on research and education about these concerns.^[1] Some of the concerns are:

• Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military, among others.
  • Who should have access to personal genetic information, and how will it be used?
  • Who owns and controls genetic information?
  • Psychological impact and stigmatization due to an individual's genetic differences.
  • How does personal genetic information affect an individual and society's perceptions of that individual?
  • How does genomic information disproportionately affect members of minority communities?
• Reproductive issues including adequate informed consent for complex and potentially controversial procedures, use of genetic information in reproductive decision making, and reproductive rights.
  • Do healthcare personnel properly counsel parents about the risks and limitations of genetic technology?
  • How reliable and useful is fetal genetic testing?
  • What are the larger societal issues raised by new reproductive technologies?
• Clinical issues including the education of doctors and other health service providers, patients, and the general public in genetic capabilities, scientific limitations, and social risks; and implementation of standards and quality-control measures in testing procedures.
  • How do we as a society balance current scientific limitations and social risk with long-term benefits?
  • Uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart disease) linked to multiple genes and gene-environment interactions.
  • Should testing be performed when no treatment is available?
  • Should parents have the right to have their minor children tested for adult-onset diseases?
• Conceptual and philosophical implications regarding human responsibility, free will vs genetic determinism, and concepts of health and disease.
  • Do people's genes make them behave in a particular way?
  • Can people always control their behavior?
  • What is considered acceptable diversity?
  • Where is the line between medical treatment and enhancement?
• Commercialization of products including property rights (patents, copyrights, and trade secrets) and accessibility of data and materials.
  • Who owns genes and other pieces of DNA?
  • Will patenting DNA sequences limit their accessibility and development into useful products?
• Video: Risks of the Revolution

Juan Enriquez of Excel Venture Management discusses the risks of genomics and how they can be contained in the following video from BigThink:

References

1. ↑ ^{1.0 1.1} http://www.ornl.gov/sci/techresources/Human_Genome/project/budget.shtml
2. ↑ Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature (2001) 409 (6822): 860–921. Abstract | Full Text
3. ↑ Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001 16;291(5507):1304-51. Abstract | Full Text
4. ↑ White House Press Release
5. ↑ Levy S, Sutton G, Ng PC, et al. The diploid genome sequence of an individual human. PLoS Biol. 2007 4;5(10):e254. Abstract | Full text

External Links

Genome.Gov

National Human Genome Research Institute news release: International Consortium Completes Human Genome Project

U.S. Department of Energy Office of Science: Human Genome Project Completion: 1990-2003

ELSI program at the National Institutes of Health: Ethical, Legal and Social Implications (ELSI) Research Program