The Human Genome Project – discovering the human blueprint

Key text

This topic is sponsored by the Australian Government's National Innovation Awareness Strategy.
In what has been called the Everest of modern biology, scientists from around the world have worked together to unravel and record the entire set of human genetic instructions.

back to basics logo You will get more from this topic if you have mastered the basics of DNA and genes – these links will take you to an annotated list of sites with helpful background information.

How the project began

The idea of the Human Genome Project first began in a vague way in the 1970s when biologists started to investigate human genes at the molecular level. As biochemical analysis of DNA (deoxyribonucleic acid) became possible, it became clear that certain segments of DNA (called markers) were associated with particular conditions.

Various countries started to map parts of the human genome in the 1980s but the international project really got under way when the USA became involved. In 1989, the Human Genome Organisation (HUGO) was founded by leading scientists in the field to coordinate the massive international effort involved in unravelling the secrets of our genes.

The Human Genome Project – A feat so vast that at first it seemed unachievable

The project aimed to map the position of every human gene and to read and decipher every message encoded in the the twisted double helix of our DNA (Box 1: Genes – the basic facts). It was a stupendous and very costly undertaking, involving advanced biotechnology, and took many years to complete. A first draft of the human genome was announced in June 2000.

In February 2001, the publicly funded Human Genome Project and the private company Celera both announced that they had mapped the bulk of the human genome. Although early estimates of the number of genes required to make a human were in the hundreds of thousands, scientists have found that we only contain about 23,000 genes, not much more than the roundworm, Caenorhabditis elegans, and less than a tiny water crustacean called Daphnia, which has around 30,000.

In April 2003, the 50th anniversary of the publication of the structure of DNA, the completed map was announced. The final sequence covers 99 per cent of the gene-containing regions of the genome.

Australia plays its part

Despite its strong contributions to biological and medical research, Australia has been slow to become involved in large-scale genome research. Few of our institutions have had the funding or facilities to undertake such projects. The establishment of the Australian Genome Research Facility in 1995 provided Australia with a facility for DNA sequencing and is now Australia's largest provider of genomic services (Box 2: Gene mapping and DNA sequencing).

The controversy

There is no doubt that information from the Human Genome Project will provide huge benefits to human health with the diagnosis and possible treatment of genetic diseases (eg, cystic fibrosis and Huntington's chorea). However, some people feel that the huge amounts of money being spent on the project could have been used to improve the human condition in more effective ways.

Genetic information can be misused; for example, through genetic discrimination by employers or insurance companies. The ethical, legal and social issues (ELSI) associated with genetic information have been considered by the US Department of Energy and National Institutes of Health under the world's largest bioethics program.

The completion of the project and the issues associated with it will be an essential part of modern biology for years to come.

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Page updated December 2011.