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Genomics breakthroughs mount to fight disease

May / June 2013 | Volume 12, Issue 3

By Cathy Kristiansen

Scientists have produced a remarkable volume of human DNA data, but now they need to decipher it faster and produce interventions against disease, according to speakers at the 10th anniversary of the Human Genome Project. The conference was hosted by NIH's National Human Genomics Research Institute (NHGRI).

One of the intended outcomes of the project was that scientists would use the explosion of genomic information about disease pathogenesis and pathways to try to identify new possibilities for intervening in common diseases, said NIH Director and former NHGRI Director, Dr. Francis S. Collins. "We really haven't taken advantage of that as we might have - and it's time."

Two boys with backs to camera, arms around each other, look at strings of colored genetic code, Human Genome Project 10th Anniv.

Researchers are on the right path, he said, citing cancer as an example. Under the umbrella of the Cancer Genome Atlas, scientists are sequencing and analyzing more than 11,000 cancer tumor genomes, which they hope will point to new diagnostic biomarkers and therapies. "We have great hopes this will lead us not only to better ideas about how to identify subsets of cancers, but also to target therapies more effectively," Collins said. The atlas is a collaboration between NHGRI and the National Cancer Institute, supported by public and private institutions.

New technology to sequence genomes at very high volume and speed has exponentially increased the supply of genomic data, noted NHGRI Director Dr. Eric D. Green. In 1990, DNA sequencing took six to eight years and cost $1 billion, but today takes two to three days and costs between $4,000 and $6,000. In 1990, scientists had identified the molecular basis of 61 diseases and this number has surged to 4,847.

The Human Genome Project has also accelerated discovery of DNA influences on individuals' responses to pharmaceuticals. U.S. regulators now require genomic information on the labels of more than 100 products, up from four in 1990. "In short," Green noted, "this additional label information now notifies physicians to consider the patient's genomic makeup when prescribing."

Physicians have begun to do this, for instance in identifying whether their breast cancer patients should take the drug Herceptin, which works only on tumors with a specific genomic profile. The same goes for lung cancer drugs Iressa and Tarceva.

The Human Genome project opened the door to making sense of the so-called "junk DNA." Although mapping the genome identified about 20,000 protein-coding genes, these comprise only about 1.5% of total DNA, with the rest of unknown function at the time, but now recognized as key to many genomic functions.

Collins said massive undertaking though it was, the Human Genome Project succeeded because it was "so compelling, so game-changing, so interdisciplinary. It had such opportunities for creativity from multiple perspectives that it attracted some of the best and brightest scientists of our generation."

About the National Human Genome Research Institute

The National Human Genome Research Institute (NHGRI) was established in 1990 to carry out NIH's role in the International Human Genome Project. With an annual budget of around $500 million, the Institute supports the development of resources and technology that will accelerate genome research and its application to human health. It studies the ethical, legal and social implications of genome research, supports the training of investigators and disseminates genome information.

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