My how times change.
Twenty years ago, when the government began the Human Genome Initiative, researchers believed it would take 10 years, $3 billion and thousands of scientists to determine the sequence of the 3 billion individual deoxyribonucleic acid bases that constitute a single individual's genetic complement or genome. That estimate proved to be conservative. A complete sequence was not announced until 2003 and the total cost is still unclear.
Since then, techniques for sequencing have improved dramatically. By last year, a complete human genome could be deciphered at a cost of only $250,000 and requiring only about 200 people.
Today, bioengineer Stephen Quake of Stanford University reports online in the journal Nature Biotechnology that he has sequenced his own genome at a cost of less than $50,000 and with the help of only two people. "This is the first demonstration that you don't need a genome center to sequence a human genome," he said. "It's really democratizing the fruits of the genome revolution and saying that anybody can play in this game."
Quake's becomes one of only about a dozen genomes that have been sequenced so far. Others whose genomes have been sequenced include J. Craig Venter, founder of Celera Genomics -- which played a significant role in the mapping of the human genome -- and James Watson, co-discoverer of the structure of DNA.
Stanford physicians are studying the genome -- and Quake -- to look for links between health and genetics. The genome revealed that Quake carries a rare mutation for a heart disorder that has affected other members of his family. The good news, he said, is that he also has a gene that suggests he will respond well to cholesterol-lowering statin drugs.
He also found he bears a gene that has sometimes been associated with increased disagreeability. "Of course, you don't need my genome to tell you that," he said. "My wife could have told you that, and certainly the dean could have as well."
-- Thomas H. Maugh II