Genetics Icon Receives Personal Genome

Scientific Celebrity: Nobel Laureate James Watson, Ph.D., is surrounded by fans wanting his autograph following the presentation of his personal genome at Baylor College of Medicine.

Nobel Laureate James Watson, Ph.D., co-discover of the DNA double helix and father of the Human Genome Project, peeked at his own genome sequence and saw the potential for a better society.

"I think we will have a healthier and more compassionate world 50 years from now due to the great technological advances we are celebrating here today," said the genomic pioneer, who became the first person to receive the data that encompass his DNA sequence in ceremonies at Baylor College of Medicine on May 31, 2007. A company–454 Life Sciences–did the sequencing using new technology that cut the time and cost a thousand fold compared to the international Human Genome Project completed in 2003.

That "big science" project generated a generic genome drawn from the DNA of many people. It took 13 years and cost $2.7 billion–less than projected when it started in 1990. Sequencing Watson's genome took two months and cost $1 million.

The Baylor College of Medicine Human Genome Sequencing Center both verified the accuracy of the data generated by 454 and analyzed the information, looking for mutations and differences in Watson's genetic blueprint. The notion to sequence Watson's DNA came from Richard Gibbs, Ph.D., Director of the Human Genome Sequencing Center and the Wofford Cain Professor of Molecular and Human Genetics at BCM.

"I think in this era of very few iconic figures in any arena, we are very fortunate to have Jim Watson as our colleague and associate and as a beacon in genetics. And now here we are 50 something years later, delivering to him for the first time a complete human genome sequence and it's his sequence. That's the symmetry," said Gibbs. Gibbs and Jonathan Rothberg, Ph.D., founder of 454 Life Sciences, were discussing the new technology developed by the company and whose genome should first be sequenced. Gibbs suggested that Watson was the natural choice, and he helped Rothberg make contact.

Both Rothberg and Watson see genomic medicine as a personal as well as a scientific quest. Rothberg conceived the technique for the chip technology that is the basis for 454's more efficient sequencing while sitting outside a newborn intensive care unit, waiting for word on the fate of his son Noah, whose birth left him blue and in need of care.

"I wished I could sequence his DNA to find out what was wrong," said Rothberg. (Noah was fine, Rothberg said.)

Watson's support of the Human Genome Project began in the very personal quest for a treatment for his oldest son's schizophrenia.

"It seemed to me to be a hopeless task to understand schizophrenia and other mental disorders without the complete human genome," he said.

Past meets present: James Watson, Ph.D., far left, who co-discovered the DNA double helix, viewed the latest in genetics research while touring BCM's Human Genome Sequencing Center with leaders from BCM and 454 Life Sciences.

His personal genome is the first of many that will be generated. When evaluated in combination with medical histories and symptoms, it will enable scientists and physicians to improve the treatment of many diseases for which little exists today. The amount of data generated in each genome is a monumental task.

"We already struggle with the data," said James Lupski, M.D., Ph.D., Vice Chair of Molecular and Human Genetics at BCM and a medical geneticist who helped communicate information about Watson's DNA to him.

"As a medical geneticist, I have never seen so much data in front of me. This heralds an entire new era. It will also take a lot of time to understand what it means," he said. The ability to use that information to affect therapy and prevent disease will require analyzing thousands of individual genomes, he said.

Those thousands of genomes will become possible as the cost of sequencing goes down, said 454 founder Rothberg. That will make it possible to interpret what individual findings mean.

For example, he said, studies of Watson's DNA show that mutations in 310 of his genes alter proteins in a way that could affect human health. Right now, there are a few recommendations they can make that will improve Watson's health, but the future promises more. With more genomes, they can understand the changes better and use that information therapeutically.

Watson has started that ball rolling by making his genome publicly available in a DNA bank.

"It makes a statement that you don't have to be afraid of your genome," said Rothberg. "I believe it will have a profound effect."

Anxiety is more likely to come from not knowing than from knowing, said Watson. His only request was that he not be told about a gene known to be associated with late stage Alzheimer's disease, which affected one of his grandmothers.

"I knew I was risking possible anxiety when I saw it," said Watson. "But it's much more that if I don't sleep at night, it's due to thinking about Iraq rather than about my genome.

"I am actually thrilled," he said. He said the variability of the human genome was impressive. "This is a gigantic step." The next big step will be improving the technology so that the $1 million price drops to $100,000 and then maybe even to $1,000—well within the price range of most people.

With that reality will come a host of legal and ethical issues, said Amy McGuire, J.D., Ph.D., Assistant Professor of Medicine in BCM's Center for Medical Ethics and Health Policy.

"Sequencing a personal genome possibly will reveal information about children, parents and siblings," she said. At present, there are no real standards as to what control family members can have over sequencing of an individual's genome or its release.

State laws now provide a patchwork of rules about discrimination and genetic information, but legislation now before the Congress could make those rules federal. However, said McGuire, more study is needed to determine what effect those rules could have over genetic discrimination.

Shortly before he was presented with a beribboned pocket hard drive containing more than 20 gigabytes of data on his personal genome sequence, Watson charged his colleagues to answer the crucial questions that could lead to true genomic medicine.

"People my age (79) feel more urgent than those who are 60," he said. "I have a sense of urgency."

Or as he told the faculty and staff of the BCM Human Genome Sequencing Center later, "Work harder."

Features

News

Spotlight

Briefs

Development & Alumni News

Volume 3, Issue 2, Summer 2007


	Genetics Icon Receives Personal Genome by Ruth SoRelle, M.P.H. Scientific Celebrity: Nobel Laureate James Watson, Ph.D., is surrounded by fans wanting his autograph following the presentation of his personal genome at Baylor College of Medicine. Nobel Laureate James Watson, Ph.D., co-discover of the DNA double helix and father of the Human Genome Project, peeked at his own genome sequence and saw the potential for a better society. "I think we will have a healthier and more compassionate world 50 years from now due to the great technological advances we are celebrating here today," said the genomic pioneer, who became the first person to receive the data that encompass his DNA sequence in ceremonies at Baylor College of Medicine on May 31, 2007. A company–454 Life Sciences–did the sequencing using new technology that cut the time and cost a thousand fold compared to the international Human Genome Project completed in 2003. That "big science" project generated a generic genome drawn from the DNA of many people. It took 13 years and cost $2.7 billion–less than projected when it started in 1990. Sequencing Watson's genome took two months and cost $1 million. The Baylor College of Medicine Human Genome Sequencing Center both verified the accuracy of the data generated by 454 and analyzed the information, looking for mutations and differences in Watson's genetic blueprint. The notion to sequence Watson's DNA came from Richard Gibbs, Ph.D., Director of the Human Genome Sequencing Center and the Wofford Cain Professor of Molecular and Human Genetics at BCM. "I think in this era of very few iconic figures in any arena, we are very fortunate to have Jim Watson as our colleague and associate and as a beacon in genetics. And now here we are 50 something years later, delivering to him for the first time a complete human genome sequence and it's his sequence. That's the symmetry," said Gibbs. Gibbs and Jonathan Rothberg, Ph.D., founder of 454 Life Sciences, were discussing the new technology developed by the company and whose genome should first be sequenced. Gibbs suggested that Watson was the natural choice, and he helped Rothberg make contact. Both Rothberg and Watson see genomic medicine as a personal as well as a scientific quest. Rothberg conceived the technique for the chip technology that is the basis for 454's more efficient sequencing while sitting outside a newborn intensive care unit, waiting for word on the fate of his son Noah, whose birth left him blue and in need of care. "I wished I could sequence his DNA to find out what was wrong," said Rothberg. (Noah was fine, Rothberg said.) Watson's support of the Human Genome Project began in the very personal quest for a treatment for his oldest son's schizophrenia. "It seemed to me to be a hopeless task to understand schizophrenia and other mental disorders without the complete human genome," he said. Past meets present: James Watson, Ph.D., far left, who co-discovered the DNA double helix, viewed the latest in genetics research while touring BCM's Human Genome Sequencing Center with leaders from BCM and 454 Life Sciences. His personal genome is the first of many that will be generated. When evaluated in combination with medical histories and symptoms, it will enable scientists and physicians to improve the treatment of many diseases for which little exists today. The amount of data generated in each genome is a monumental task. "We already struggle with the data," said James Lupski, M.D., Ph.D., Vice Chair of Molecular and Human Genetics at BCM and a medical geneticist who helped communicate information about Watson's DNA to him. "As a medical geneticist, I have never seen so much data in front of me. This heralds an entire new era. It will also take a lot of time to understand what it means," he said. The ability to use that information to affect therapy and prevent disease will require analyzing thousands of individual genomes, he said. Those thousands of genomes will become possible as the cost of sequencing goes down, said 454 founder Rothberg. That will make it possible to interpret what individual findings mean. For example, he said, studies of Watson's DNA show that mutations in 310 of his genes alter proteins in a way that could affect human health. Right now, there are a few recommendations they can make that will improve Watson's health, but the future promises more. With more genomes, they can understand the changes better and use that information therapeutically. Watson has started that ball rolling by making his genome publicly available in a DNA bank. "It makes a statement that you don't have to be afraid of your genome," said Rothberg. "I believe it will have a profound effect." Anxiety is more likely to come from not knowing than from knowing, said Watson. His only request was that he not be told about a gene known to be associated with late stage Alzheimer's disease, which affected one of his grandmothers. "I knew I was risking possible anxiety when I saw it," said Watson. "But it's much more that if I don't sleep at night, it's due to thinking about Iraq rather than about my genome. "I am actually thrilled," he said. He said the variability of the human genome was impressive. "This is a gigantic step." The next big step will be improving the technology so that the $1 million price drops to $100,000 and then maybe even to $1,000—well within the price range of most people. "Then genomic diagnosis can become a reality," he said. With that reality will come a host of legal and ethical issues, said Amy McGuire, J.D., Ph.D., Assistant Professor of Medicine in BCM's Center for Medical Ethics and Health Policy. "Sequencing a personal genome possibly will reveal information about children, parents and siblings," she said. At present, there are no real standards as to what control family members can have over sequencing of an individual's genome or its release. State laws now provide a patchwork of rules about discrimination and genetic information, but legislation now before the Congress could make those rules federal. However, said McGuire, more study is needed to determine what effect those rules could have over genetic discrimination. Shortly before he was presented with a beribboned pocket hard drive containing more than 20 gigabytes of data on his personal genome sequence, Watson charged his colleagues to answer the crucial questions that could lead to true genomic medicine. "People my age (79) feel more urgent than those who are 60," he said. "I have a sense of urgency." Or as he told the faculty and staff of the BCM Human Genome Sequencing Center later, "Work harder."		Search all issues: Features Saving Twins Before Birth Blessing to Botswana Preserving Brains Cocaine Vaccine Shows Promise News Building, Bucks & BBQ DNA Discoverer Gets His Own BCM Cancer Center One of Select Few Spotlight Bert O'Malley: A Pioneer in Molecular Endocrinology Making Sense of the Sense of Touch Tissue Samples Go Digital Severe Skin Conditions Take a Back Seat at Camp Dermadillo Health Economist Must Put Price Tag on the Priceless Doctor Creates Cartoon that "Bugs" Kids About the Risks of Tobacco Briefs Living Longer is Smelly Business Clinical Trials for Cancer Southward Bound Green Tea Component Blocks HIV Cell Entry Genetics Technique Takes Bite out of Research Barriers Sports Legends Lend Helping Hands, Arms to College Development & Alumni News Mitchell Gift Furthers Brain Research Lambert Receives Lifetime Achievement Award Kleberg Foundation Gift Establishes RNAi Screening Core Facility Alumnus Named White House Fellow New Trustees Announced Tailoring Technology to Benefit You, the Patient

	Volume 3, Issue 2, Summer 2007



	BCM Home \| BCM Intranet \| Privacy Notices \| Contact BCM \| BCM Site Map © 2005-8 Baylor College of Medicine® Office of Public Affairs One Baylor Plaza, Houston, Texas 77030 Mail: One Baylor Plaza, Mail Stop 106, Houston, Texas 77030 Phone: 713-798-4710 \| Fax: 713-798-3692 E-mail: solutions@bcm.edu