Genome announcement a milestone, but only
a beginning
Leaders say discovery must be
linked to responsible use
June
26, 2000 Web posted at: 6:51 p.m.
EDT (2251 GMT) From staff
reports
(CNN) -- The sequencing of the human genome is a scientific milestone, U.S. and British researchers said Monday, but the most important work lies ahead, in determining how to put the information to medical use.
The heads of the public and private efforts to decipher the genetic
makeup of human beings announced
the completion of a rough draft of the project -- more
than 10 years after it was begun.
"Mapping the human genome has been compared
with putting a man on the moon, but I believe it is
more than that," said Dr. Michael Dexter, the
director of the Wellcome Trust, which funded the
British part of the Human Genome Project.
"This is the outstanding achievement not only of
our lifetime but perhaps in the history of mankind," Dexter told a London news
conference.
'Technological triumph'
The progress the researchers have made heralds a
new era of medical discovery, U.S. President Bill
Clinton and British Prime Minister Tony Blair
declared at a White House news conference
acknowledging the successes.
"This is the most important, most wondrous map
ever produced by humankind," Clinton said in
Washington. "Humankind is on the verge of
gaining immense new power to heal. Genome
science ... will revolutionize the diagnosis,
prevention and treatment of most, if not all,
human diseases."
Joining Clinton via satellite link from London,
Blair called the genome project "the first great
technological triumph of the 21st century."
Both leaders, however, emphasized the need to
use the information wisely and maintain
international cooperation in its development.
The medical benefits of genome science, they
agreed, must be used to benefit all people, not
only a privileged few. Individual privacy must be
protected as science moves forward with the
project, and the information must not be used to
discriminate against any group or person.
If the project proves anything, Clinton said, it is
that "the most important fact of life on this Earth
is our common humanity."
The sentiment was echoed by the men who have
directed the U.S. research teams pursuing the genome puzzle.
"What a profound responsibility it is to do this
work," said Dr. Francis Collins, director of the
Human Genome Project at the National Institutes
of Health. "Historians will consider this a turning
point."
J. Craig Venter, who heads the private company
Celera Genomics, concurred.
"It is my belief that the basic knowledge that
we're providing to the world will have a profound
impact on the human condition and the treatments
for disease and our view of our place on the
biological continuum," Venter said.
All the researchers involved praised the high level
of international cooperation that enabled them to
reach this stage, and they pledged to keep that
momentum going.
Potential for medical breakthroughs
Mapping the chemical sequences for human DNA
-- the chemical "letters" that make up the recipe
of human life -- is a breakthrough that is expected
to revolutionize the practice of medicine by
paving the way for new drugs and medical
therapies.
Specific sequences of DNA characters form the
genes that make us what we are, govern our biological functions and determine our susceptibility to illnesses like cancer or diabetes.
Mapping involves three separate steps:
sequencing, assembling and annotating the genes.
In the sequencing phase, researchers identified
the approximately 3.5 billion chemical letters (A,
C, G, T) that make up human DNA, the building
block of the genes.
In the assembling phase, they put those letters in
the correct order, allowing them to "read" each
gene.
Venter said Celera had sequenced 99 percent of
the human genome and had assembled 3.21 billion
letters of genetic code. The most difficult part is
yet to come, however.
In the final step, annotating, scientists must identify each gene and its function. They will look
for the genetic variations in people -- variations
that could be the cause of countless diseases.
That step is expected to take several years to complete. However,
scientists said doctors one day
would be able to study a person's genetic profile, determine his
susceptibility to various diseases, and design a course of treatment to
prevent illness.
"You're going to see a proliferation of discoveries about the
genetic contributions to diabetes
and heart disease and high blood pressure and schizophrenia and
multiple sclerosis and on down the list," Collins told CNN.
"Conditions that we know have genetic contributions but which have
been rather difficult to nail down,
this set of power tools that the genome project is producing will accelerate this discovery process rather
dramatically, and we're going to
see the consequences of that in the next three to five years," Collins
said.
Fears of abuse
Despite the potential for medical advancements, many Americans are
divided over the implications of
the genome project.
In a CNN-Time magazine poll taken two weeks ago, 46 percent of
respondents said they expected
harmful results from the endeavor. Forty percent expected
benefits. About 41 percent of respondents said the project is morally
wrong; 47 percent disagreed.
Nevertheless, a majority of respondents
-- 61 percent -- said they would want
to know if they were predisposed to
developing a genetic disease. About 35
percent would not want to know.
The question of who should have access
to genetic information is one of the
most controversial stemming from the
project.
In the poll, 67 percent of respondents
said doctors should be able to get genetic
information. About 20 percent said it should be available to insurance
companies, and only 14 percent said it should be available to the
government.
Arthur Caplan, director of the Center for Bioethics at the University of
Pennsylvania, said providing genetic information to insurers or employers
could have negative consequences if
a person is predisposed to a particular disease.
"They might say, 'We don't want to hire you if you're going to have
high medical costs. We don't want
to give you life insurance,'" Caplan said.
Protecting the privacy of genetic information is extremely important,
Caplan added, as is the issue of consent. "We need to have a law, a federal law -- probably an international
law -- that says no testing without the express permission of the
person,"
Caplan said.
Different methods, common goal
The Human Genome Project is an international
consortium supported mostly by the U.S. National Institutes of
Health and the Wellcome Trust, a philanthropic organization based in
London. Celera Genomics is a private company in Rockville, Maryland.
The high level of international cooperation was instrumental in
accomplishing so much of the
project so quickly, the NIH's Collins said Monday.
Although the public and private groups are using different methods in
their human genome projects, they
both have as a goal the discovery of the chemicals
of the approximately 80,000 genes that make up the human body.