hen scientists at Celera Genomics announced two years ago that they
had decoded the human genome, they said the genetic data came from
anonymous donors and presented it as a universal human map. But the
scientist who led the effort, Dr. J. Craig Venter, now says that the
genome decoded was largely his own.
Dr. Venter also says that he started taking fat-lowering drugs
after analyzing his genes.
Reactions among scientists range from
amusement to indifference, most saying that it is unimportant whose
genome was sequenced. But members of Celera's scientific advisory
board expressed disappointment that Dr. Venter subverted the
anonymous selection process that they had approved.
Dr. Venter, a pioneer in the use of new DNA sequencing machines,
challenged the government-supported effort to decode the human
genome and held his academic rivals to a draw in June 2000, despite
starting years later in the race.
Both teams said their DNA sequence was based on the DNA of
anonymous donors, with Celera's being drawn from a pool of 20 donors
from 5 ethnic groups. But in an interview this week, Dr. Venter
elaborated on his brief mention on "60 Minutes II" on April 17 that
the Celera genome was based principally on his DNA.
In making this known, he has abandoned his genetic privacy in the
most thorough way possible, even though for now only subscribers to
Celera's genome database can browse through his genetic
endowment.
Though the five individuals who contributed to Celera's genome
are marked by separate codes, Dr. Venter's is recognizable as the
largest contribution. He said he had inherited from one parent the
variant gene known as apoE4, which is associated with abnormal fat
metabolism and the risk of Alzheimer's, and that he was taking
fat-lowering drugs to counteract its effects.
Dr. Venter's reason for having his own genome sequenced, he said
in an interview this week, was in part scientific curiosity — "How
could one not want to know about one's own genome?" — and also a
sense of responsibility that because he was asking other people to
donate tissues, risking invasion of their genetic privacy, he should
be first in line.
He did not make this known at the time, he said, "because I
didn't want it to be the issue or the focus."
"Now, after the fact," he said, "I don't think it matters."
As to opening himself to the accusation of egocentricity, he
said, "I've been accused of that so many times, I've gotten over
it."
The academic consortium expressed no great emotion at the news
that their rival had sequenced his own genome.
"That doesn't surprise me; sounds like Craig," said Dr. James D.
Watson, the co-discoverer of the structure of DNA. Dr. John Sulston,
former director of the Sanger Center in England, said, "It doesn't
have any great significance." Dr. Francis Collins, director of
genome research at the National Institutes of Health, declined
through a spokesman to comment.
But members of Celera's scientific board of advisers expressed
regret that the process they had approved for choosing anonymous
donors had been subverted.
"I think the original idea, to keep everything anonymous, was not
a bad one," said Dr. Richard Roberts, scientific director of New
England BioLabs and a board
member.
Another member, Dr. Arthur Caplan, a biomedical ethicist at the
University of Pennsylvania, said, "Any genome intended to be a
landmark should be kept anonymous. It should be a map of all us, not
of one, and I am disappointed if it is linked to a person."
The drive to sequence the human genome was an opportunity for
personal glory as well as scientific discovery, and Dr. Venter's
action emphasized the first motive, Dr. Caplan said.
It seems that Celera's intended process of choosing randomly
among anonymous samples must have been overridden at some stage so
that Dr. Venter's became the one selected. A Celera spokesman,
Robert Bennett, would not confirm or deny Dr. Venter's claim and
declined to make available Dr. Sam Broder, the company's vice
president for medical affairs, who oversaw the donor selection
process.
Dr. Venter, however, said that "I made the selection with a
team," and that "only me and two other people" know the codes to
Celera's five donors.
Because the human genome decoded by the academic consortium is a
mosaic of different individuals, Dr. Venter is at present the only
person whose genome has been largely sequenced, and may remain so
for many years. In his person, he offers a unique way to connect a
human genotype with its phenotype, as biologists refer to a genome
and the physical form it specifies.
Is his body now particularly valuable to science? "You mean for
dissection?" Dr. Venter said. "I haven't thought that far ahead. You
have given my critics a chance to dissect me."
Dr. Norton Zinder of Rockefeller University said he saw some
value in less drastic investigations to study the link between Dr.
Venter's genotype and phenotype. "You would have to do experiments
on him," Dr. Zinder said. "Craig would become an experimental
animal. He's certainly made himself liable for that."
But Dr. Kenneth Kendler, a psychiatric geneticist the Virginia
Institute for Psychiatric and Behavioral Genetics, said that science
was not advanced enough to read off a person's personality from
their genome and that, as a sample of one, Dr. Venter and his genome
were not of much help to scientific inquiry.
The same verdict came from Dr. Stephen Warren, editor of the
American Journal of Human Genetics.
"I think it's of much more interest to him to know his genotype
than for other geneticists to know it," Dr. Warren said. But he
praised Dr. Venter's drive and ambition for forcing the public
consortium to speed its efforts.
As for the idea that Dr. Venter's body should somehow be
preserved along with his genome, Dr. Warren said, "That would be his
wish, no doubt, to be prominently displayed in the
Smithsonian."