Human genome map reaches finish line at 99.9% accuracy
Paul Recer
Associated Press
Apr. 15, 2003 12:00 AM

The book of genetic instructions for the human body is complete to an accuracy of 99.99 percent, a scientific achievement once deemed impossible but now considered the foundation for a new era of medical advances, an international research team said Monday.

With the entire sequence in hand and available to scientists worldwide, experts predicted it would lead to new drugs, better forecasts of people's health and new ways to treat or prevent many of the most devastating human illnesses.

A joint statement from the leaders of the six nations, including President Bush, said the genetic map "provides us with the fundamental platform for understanding ourselves from which revolutionary progress will be made in biomedical sciences and in the health and welfare of humankind."

The group, along with a competing private effort, completed a rough draft of the genome in 2000, but that draft included thousands of gaps in the long sequence of DNA base pairs. Now all but 400 of those gaps have been closed.

"After 3 billion years of evolution . . . we have before us the instructions set that carries each of us from a one-celled egg through adulthood to the grave," said Dr. Robert Waterston of the International Human Genome Sequencing Consortium. "It is written in an arcane language and encompasses a complexity that we just beginning to understand."

The genome is composed of about 3 billion pairs of DNA chemicals within 24 chromosomes. The genes that control development, growth, functions and aging are made of specific sequences of these chemical pairs.

By identifying the correct and healthy sequence of base pairs, researchers hope to be able to find the disease-causing genetic flaws that could yield to treatment.

Scientists are still uncertain how many genes there are in the genome, but most believe it is about 30,000.

Hundreds of scientists in the consortium, representing 18 organizations in six countries, started the sequencing work in 1990.

American agencies and universities, led by the National Human Genome Research Institute and the Department of Energy, completed the project at a cost of about $2.7 billion, $300 million less and two years earlier than estimated.

Celeria Genomics, a private company led by Craig Venter, raced the international effort to produce a parallel rough draft of the genome. Completion of the competing efforts was announced in June 2000.