The Human Genome Project

The Human Genome Project was an international collaborative effort by several major research institutions in the United States, Britain, France, Germany, Japan and China. The main goal was to completely map all the genes of human beings – together known as our ‘genome’.

The purpose of this project was to identify the tens of thousands of different genes in the human body, and to locate their place on the different chromosomes, resulting in a ’map’ of the genome. This information will make it possible to learn more about the role of genes and the whole genome in health and disease.

The Human Genome Project was declared completed in April 2003. You can read a summary of the successes of the project and the potential it provides in the press release issued in April 2003.

Although the project was officially completed in 2003, the information provided by the 3 billion DNA letters in the 30,000 – 40,000 genes contained on our chromosomes will take many more years to fully understand. The Human Genome Project website provides information on the various discoveries that have occurred both during and subsequent to the project’s completion.

Read our comments below about the implications for health and disability, and the ethical, legal and social issues, or go the the following sites for more information:

Introduction to the Human Genome Project - from the site of the National Human Genome Research Institute.
Issues in Genetics and Health - an introduction to the ethical, legal and social issues from NHGRI.
Medicine and the New Genetics - from the Human Genome information site of the US Department of Energy.
Fact Sheets - from NHGRI give detailed summary information about the project, the technology and the issues.

Implications for health and disability

In the past it was possible to work out where genes were located on a chromosome, and what effect a mutation in a gene would have in causing some diseases or disabilities. But this was a very slow process and there was only a gradual increase each year in the knowledge about certain genes and their functions. The use of powerful computers and new biotechnological processes enabled the Human Genome Project and other research scientists to speed up this process considerably.

The most significant direct outcome of this project has been the rapid gathering of a very significant amount of information and understanding about how many of our genes work, and what disease or disability is caused if the gene does not work correctly. Although much progress has been made since the project was completed in 2003, a lot of work is still required to identify the function of particular genes, and understand the action of the proteins they express.

The next implication of this increased knowledge will be a much greater technical capacity to intervene to change things. This was described by the former Director of the National Human Genome Research Institute, Francis Collins, as providing "insights that will give health care providers immense new powers to treat, prevent and cure diseases". This could lead to:

  • understanding the function of a very large number of genes, and their relation to disease and disability
  • more opportunities for testing embryos, foetuses or people for defects in the gene
  • faster and more accurate diagnosis of diseases and disability
  • greater scope for the development of treatments to correct defects in the gene (genetic modification technology or other new biotechnology therapies)
  • widespread application of other interventions to compensate for genetic faults (e.g. developing targeted drugs)

But the pace of this knowledge gain has been unsettling for many people. The technical possibilities have at times appeared to be ahead of the community's ability to understand them, absorb the implications, and deal with the ethical, legal and social concerns that have often arisen.

Alongside the knowledge and technical opportunities that arise from this project, it was recognised right from the outset that there would be "momentous implications for individuals and society". Recognising the "profound importance and seriousness of this venture", the project also set out to examine the ethical, legal and social implications of human genetic research, and established a special programme for this purpose.

There are many implications that can affect individuals, families and the whole community. Some of these have been identified and widely debated for a number of years now. For example:

  • Possible genetic discrimination in health insurance and employment
  • Informed consent issues in genetic testing
  • Privacy issues and ownership of genetic information
  • Bioethics of research and clinical application of genetic technology

The Human Genome Project's Ethical, Legal and Social Implications Programme has published a number of reports and recommendations, funded research, and held seminars on these issues. Some of the outcomes of this programme have led to law and policy changes in various countries, but there are many issues that are not yet resolved.

One global response to these issues is the Universal Declaration on the Human Genome and Human Rights. The process to develop this began in UNESCO, early in the life of the human genome project, and the final declaration was adopted by UNESCO in 1997, with the United Nations General Assembly endorsing the Declaration in 1998.

The ethical, legal and social implications need to be finally worked out within the context of each society, so that the laws and ethical practices that are agreed upon, take into account the values, culture and social and economic framework of each society. More public education and debates are needed to develop these further.

Whether the ethical, social and legal issues and debates will move forward at the same pace, and be resolved in time to deal with the technical possibilities that arise, is a more difficult matter to predict. If they move relatively closely, or in parallel, there is likely to be less controversy about the whole set of issues. But if there is a disjunction between them, there will be greater issues to resolve.Click herefor a more detailed discussion of the various ethical, legal and social issues associated with the Human Genome Project, including research that it funded.

James