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Watson, is the first human to be given the data that surrounds his own personal genome sequence
:: 04 June, 2007
James Watson, Nobel Laureate and co-discoverer with Francis Crick of the DNA double helix was presented this week with his own genome sequence.
Watson, who is also the father of the Human Genome project, is the first human to be given the data that surrounds his own personal genome sequence.
The project to unravel Watson's DNA took two months and cost 1 million US dollars. It was a joint effort between 454 Life Sciences, a US subsidiary of the Swiss pharmaceutical company Roche AG, based in Connecticut, and another American organization, the Baylor College of Medicine (BCM) Human Genome Sequencing Center (HGSC) in Houston, Texas.
Watson, who is 79, and Francis Crick, who died in 2004, won the Nobel Prize in 1962 for their discovery of the DNA double helix.
"I'm thrilled," he said, when he received his genome sequence at a presentation at the BCM on Wednesday.
Apart from the personal significance of the project to Watson, the presentation marks the technological progress that has been made since the completion of the Human Genome Project (HGP) in 2003. The HGP took 13 years to complete and cost 3 billion dollars. Time and cost of such projects are expected to tumble as the technology improves, and it may soon be feasible to sequence anyone's genome. This is the vision being pursued by sequencing firms.
"Personalized genomes span the gulf between genetic diagnostics and genomics," said Dr Richard Gibbs, director of the HGSC and a scientific advisor to 454 Life Sciences.
"This project brings together research genetics, genetic diagnostics and genomics into the new vision of personal medicine. All of that is embodied in this project," he added.
A full report on the project, together with comments on the important ethical implications of doing this kind of work will be appearing soon. The raw data that describes the DNA sequence of Watson's genome is already available for anyone to see in the GenBank National Center for Biotechnology Information Trace Archive.
Jonathan Rothberg, founder and former chairman of 454 Life Sciences said that when he thought of the 454 sequencing technology, he "envisioned making routine individual genome sequencing a reality to help with personal medical care".
"Since Dr Watson is the co-discoverer of DNA's structure and a 1962 Nobel Laureate, it is only appropriate to work with him on this ambitious genome sequencing project. This project will pave the way for exploring life at the ultimate level by uncovering what makes each individual unique," he added.
Scientists produced the raw sequence using DNA from a sample of Watson's blood. The 454 method circumvents the long and expensive process of bacterial cloning of DNA which was used in the original HGP, where the genome was segmented into smaller pieces that were then inserted into bacteria cells where the bacteria's DNA replicators then copied them to produce the numbers necessary for sequencing to take place.
Instead, the method developed by 454 Life Sciences uses a polymerase chain reaction where enzymes replicate the DNA and the copies are then fed into a new DNA sequencing plate where a complex process of chemical amplification and computer-based decoding takes place to identify the sequence of 3 billion base pairs of the genome.
HGSC examined the sequence produced by the 454 Life Sciences method to check that it covered the whole genome, which also served to validate the new technology.
An important part of the process is the ethical "envelope" surrounding the revelation of a person's genome. Once the code is known, then it is possible to search for presence of genes for diseases, which may or may not be known to the person. Diseases such as cystic fibrosis and muscular dystrophy occur when a person has the faulty gene from both parents. If they only have one faulty gene for the disease, because it is recessive, they will not have the disease, but they will be a carrier.
But what if they don't know they are a carrier, should they be told? Are there some things they would rather not know about? If so, then how is the confidentiality and informed consent side of things going to be handled? These are the kinds of questions that will have to be addressed if genomic sequencing becomes common practice in the future, and in that way this project has served as a prototype.
The ethical procedure was also handled by HGSC who consulted with James Watson. There were some things he did not wish to know, and these were omitted from the sequencing data. For instance he did not wish to know if he carried the gene that signifies a higher risk of Alzheimer's since the disease is incurable and one of his grandmothers had it.
Dr Amy McGuire, assistant professor of medical ethics at BCM said: "There will be a host of ethical and social questions as we move into the phase of integrating this kind of information into clinical in the future."
Apparently some of Watson's genes did show risk for cancer. He has had skin cancer and his sister has had breast cancer, he said at the ceremony. However, it is unlikely that the type of cancer he was likely to have would have been predictable from knowing his genome sequence.
News Inside News :
What is the Human Genome Project?
Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003. Project goals were to
identify all the approximately 20,000-25,000 genes in human DNA,
determine the sequences of the 3 billion chemical base pairs that make up human DNA,
store this information in databases,
improve tools for data analysis,
transfer related technologies to the private sector, and
address the ethical, legal, and social issues (ELSI) that may arise from the project.
To help achieve these goals, researchers also studied the genetic makeup of several nonhuman organisms. These include the common human gut bacterium Escherichia coli, the fruit fly, and the laboratory mouse.
A unique aspect of the U.S. Human Genome Project is that it was the first large scientific undertaking to address potential ELSI implications arising from project data.
Another important feature of the project was the federal government's long-standing dedication to the transfer of technology to the private sector. By licensing technologies to private companies and awarding grants for innovative research, the project catalyzed the multibillion-dollar U.S. biotechnology industry and fostered the development of new medical applications.
Sequence and analysis of the human genome working draft was published in February 2001 and April 2003 issues of Nature and Science. See an index of these papers and learn more about the insights gained from them.
For more background information on the U.S. Human Genome Project, see the following
HGP Goals
HGP Progress
HGP History
Human Genome News
What's a genome? And why is it important?
A genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and sometimes even how it behaves.
DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome. The human genome, for example, has 3 billion pairs of bases.
The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's diversity, even dictating whether an organism is human or another species such as yeast, rice, or fruit fly, all of which have their own genomes and are themselves the focus of genome projects. Because all organisms are related through similarities in DNA sequences, insights gained from nonhuman genomes often lead to new knowledge about human biology.
To understand more read
The Science Behind the Human Genome Project: Understanding the Basics
Facts About Genome Sequencing
To Know Ourselves
Primer on Molecular Genetics
What are some practical benefits to learning about DNA?
Knowledge about the effects of DNA variations among individuals can lead to revolutionary new ways to diagnose, treat, and someday prevent the thousands of disorders that affect us. Besides providing clues to understanding human biology, learning about nonhuman organisms' DNA sequences can lead to an understanding of their natural capabilities that can be applied toward solving challenges in health care, agriculture, energy production, environmental remediation, and carbon sequestration.
For more details, see Anticipated Benefits of Human Genome Research.
What are some of the ethical, legal, and social challenges presented by genetic information, and what is being done to address these issues?
The Department of Energy and the National Institutes of Health Genome Programs set aside 3% to 5% of their respective annual HGP budgets for the study of the project's ethical, legal, and social issues (ELSI). Nearly $1 million was spent on HGP ELSI research.
About James Watson Profile-
Francis Crick and I made the discovery of the century, that was pretty clear. We made it, and I guess time has justified people paying all this respect to me in spite of my bad manners."
James Watson was only 25 years old when he and his older colleague, Francis Crick, discovered the structure of deoxyribonucleic acid (DNA) the building block of all life on Earth. Modern biology, and the biotechnology industry it has spawned, would be unthinkable if these two had not determined the structure of the DNA molecule. Their model of this structure -- the double helix -- has become a universal symbol of the scientific profession, and the title of Watson's 1968 best-seller.
Watson and Crick won the Nobel Prize for Physiology and Medicine in 1962, but this was not the end of Watson's career in the public eye. Through his many books and from lecterns at Cal Tech and Harvard, Watson has charged into the heart of scientific controversies. As Director of the Cold Spring Harbor Laboratory he has continued to lead the way in genetic research. From 1988 to 1992 James Watson served as the first Director of the Human Genome Project at the National Institutes of Health, a massive project to decipher the entire genetic code of the human species. He is now President of the Cold Spring Harbor Laboratory.
