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

English.news.cn 2010-07-06 05:51:08

By Xinhua writer Ren Haijun

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.

“From the outset, the Human Genome Project and the international endeavors that built upon its foundation, such as the International HapMap Project and 1,000 Genomes Project, have made all their data rapidly available to scientists around the globe,” he said. “In many ways, this is one of the most significant legacies of the Human Genome Project — and one that gives me hope that worldwide research community will come up with innovative ways to use this treasure trove of information to fight disease.”

Collins thought there are two major challenges associated with the application of sequencing technologies. The first is lowering the cost of DNA sequencing. “We’ve made dramatic progress in that area over the past 10 years. The cost of sequencing the first human genome was about 400 million dollars. Today, the cost of sequencing one genome is about 9,500 dollars, and we expect that cost to fall to 1,000 dollars or less within the next four or five years.”

The second, perhaps even bigger, challenge is figuring out how to analyze the tidal wave of data being generated by genomic sequencing and then translate those findings in ways that benefit patients in the clinic. However, “this is a challenge that can be met if we pull together the best minds in biology, medicine, statistics, and computer science.”

Collins also thought the completion of the human genome sequence was just the beginning of the effort to understand how all the parts of the genome work together to contribute to health and disease.

“Genomic research is not a sprint, it is a marathon that requires sustained commitment over a long period of time to yield maximum success,” he said.

DNAWellnessinfo.com Resource: http://news.xinhuanet.com/english2010/sci/2010-07/06/c_13384897.htm