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.
Written by: Catharine Paddock
Writer: Medical News Today