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Human Genome Project will live up to its potential: NIH director

07-06-2010 08:50 BJT

WASHINGTON, July 5 (Xinhua) -- A decade after the historic completion of the "book of life" -- the first blueprint of human DNA, the benefits of the Human Genome Project still lie ahead. However, Francis Collins, director of the U.S. National Institute of Health (NIH), is "confident" the project will live up to its potential.

"The First Law of Technology states that a truly transformational discovery will always have its immediate consequences overestimated -- and its long-term consequences, underestimated. That certainly is turning out to be true from what we are learning about the human genome sequence!" Collins told Xinhua in an interview.

"The greatest significance of the Human Genome Project is the door that it has opened into the vast and complex landscape of human biology," Collins said. "Exploring this landscape in a way that benefits human health will require creative thinking and hard work by researchers in the United States, China, and everywhere else around the globe."

Collins, noted for his leadership of the project, thought having the complete sequence of the human genome is similar to having all the pages of an instruction manual needed to make the human body.

"Thanks to the sequencing of the human genome, we have much more powerful tools to study the role that genetic factors play in more complex diseases, such as cancer, diabetes, and heart disease, and even in susceptibility to infectious diseases, such as acquired immunodeficiency syndrome (AIDS)," he said. "Genomic sequencing has facilitated the diagnosis of genetic conditions, ranging from very rare to quite common. It is shedding new light on the process of aging and providing tantalizing clues to the secrets of longevity. If we fully understand this instruction manual, it could become the most powerful textbook of medicine imaginable!"

The famous U.S. physician-geneticist thought cancer is one category of disease in which he expects genomic research to have a major impact in the near future.

Cancer is caused by changes in a cell's genome. However, the pattern of these genomic changes varies among different types of cancer -- and even among subsets of patients with the same cancer. So, it is important to produce genomic classification systems for many types and subtypes of cancer.

In the United States, the NIH is supporting an effort to build comprehensive catalogs of the key genomic changes in 20 major types and subtypes of cancer. This project, called The Cancer Genome Atlas, is working collaboratively with researchers in China and elsewhere around the world through the International Cancer Genome Consortium. The information generated by such research is already proving useful in developing new cancer therapies, as well as in matching individual cancer patients with the therapies most likely to work for them.

However, Collins warned that amid all the excitement over the promise of genomics research, we need to remember that genes do not operate in a vacuum. There are other important factors that influence people's risk of developing most common diseases. These factors include smoking, diet, exercise, and exposure to pollution.

"Unless we as humans dramatically change our lifestyles and our environment, I do not see a future in which all common diseases are completely prevented or eradicated," he said.

Collins, a supporter of free access to human genome sequencing data, thought human genetic information should be kept in the public domain to allow researchers to analyze it and to give members of the public fair access to medical treatments.

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