Human Genome Project

The completed human genome sequence generated a catalog made up of around 20,000 to 25,000 human genes; high-resolution maps of the chromosomes, including hundreds of thousands of landmarks; and billions of base pairs of DNA-sequence information. Laboratory information-management systems, robotics, database-management systems, and graphical user interfaces were among the computing tools required to help genome researchers make sense of this flood of data.

A new field of research, bioinformatics, has developed in part to address the computing challenges raised by the project. Researchers in bioinformatics have developed public databases connected to the Internet to make genome data available to scientists worldwide, along with analytical software for making sense of this flood of biological information. For example, DNA-sequence information is stored in several databases, including the NIH’s GenBank, the European Molecular Biology Laboratory’s Nucleotide Sequence Database, and the DNA Databank of Japan.

In February 2001 a rough draft of the DNA sequence of the human genome was published. The draft provided a basic outline of 90 percent of the human genome. Researchers produced a finalized version of the complete sequence of the human genome in April 2003, two years earlier than originally projected.

With the completion of the human genome, scientists now have a more detailed blueprint of the human genetic code. Scientists were surprised to learn that the actual number of human genes is far lower than expected—only about 20,000 to 25,000 genes compared to the predicted 100,000 genes. This number is a little more than twice the number of genes found in the fruit fly.

In addition to working on the human genome, researchers have sequenced the complete genome of a number of organisms—many bacteria, including Escherichia coli; the yeast Saccharomyces cerevisiae; the roundworm Caenorhabditis elegans; and the fruit fly. This research helps scientists find parallels between human genes and the genes of other life forms and thus helps them better understand the biological functions of the genes.

With the human genome sequence completed, scientists are now focusing their attention on the proteins encoded by human genes. In the relatively new science known as proteomics, scientists seek to detail the function of all human proteins. This information may lead to the development of new drugs for treating many human disorders. Proteomics may eventually lead to more novel ways to correct fatal flaws in the human genetic heritage, dramatically changing the medical approach to disease.

Increased knowledge of the human genome also has many controversial ethical, legal, and social implications. The project’s findings to date have already sparked worldwide debate on the ethics and legality of patenting human gene sequences for commercial use, the possibility that private genetic information will become available to insurance companies and employers, and the potential danger of correcting genetic defects in ways that would be passed from one generation to the next.