Proyecto Del Genoma Humano

THE HUMAN

GENOME

BUSINESS
TODAY

It’s been a wild ride for the corporate and
government parties who have deciphered the
human genetic code. The fun has just begun

B

y the time this magazine hits your mailbox, you’ll be able to
read the entire genetic
code of a human being over the Internet.
It’s not exactly light reading— start to
finish, it’s nothing but the letters A, T, Cand G, repeated over and over in varying order, long enough to fill more than
200 telephone books. For biologists,
though, this code is a runaway best-seller. The letters stand for the DNA chemicals that make up all your genes, influencing the way you walk, talk, think
and sleep. “We’re talking about reading
your own instruction book,” marvels
Francis S. Collins, director of the National HumanGenome Research Institute in Bethesda, Md. “What could be
more compelling than that?”
Collins heads the Human Genome
Project (HGP), so far a $250-million effort to write out the map of all our
genes. The HGP is a publicly funded
consortium that includes four large sequencing centers in the U.S., as well as
the Sanger Center near Cambridge,
England, and labs in Japan, France,
Germany andChina. Working together
for more than a decade, over 1,100 scientists have crafted a map of the three
billion DNA base pairs, or units, that
make up the human genome. And they
are not alone. In April a brash young
company called Celera Genomics in
Rockville, Md., beat the public consor50

Scientific American

tium to the punch, announcing its own
rough draft of the human genome. Therivalry has cast a spotlight on the human genetic code— and what, exactly,
researchers now plan to do with it.
“For a long time, there was a big misconception that when the DNA sequencing was done, we’d have total enlightenment about who we are, why we get
sick and why we get old,” remarks geneticist Richard K. Wilson of Washington University, one partner in the public
consortium. “Well, totalenlightenment
is decades away.”
But scientists can now imagine what
that day looks like. Drug companies,
for instance, are collecting the genetic
know-how to make medicines tailored
to specific genes— an effort called pharmacogenomics. In the years to come,
your pharmacist may hand you one
version of a blood pressure drug, based
on your unique genetic profile, while
the guy in line behind yougets a different version of the same medicine. Other
companies are already cranking out
blood tests that reveal telltale diseasegene mutations— and forecast your
chances of coming down with conditions such as Huntington’s disease. And
some scientists still hold out hope for
gene therapy: directly adding healthy
genes to a patient’s body. “Knowing the
genome will change the way drug trialsare done and kick off a whole new era
of individualized medicine,” predicts
J. Craig Venter, president of Celera.

July 2000

Even with the human code in hand,
however, the genomics industry faces
challenges. Some are technical: it’s one
thing to know a gene’s chemical structure, for instance, but quite another to
understand its actual function. Other
challenges are legal: How much mustyou know about a gene in order to
patent it? And finally, many dilemmas
are social: Do you really want to be diagnosed with a disease that can’t be
treated— and won’t affect you for another 20 years? As scientists begin unraveling the genome, the endeavor may
come to seem increasingly, well, human.
The “Race”

T

his spring all eyes were on the first
finish line in the genome: aroughdraft sequence of the 100,000 or so
genes inside us all. The HGP’s approach
has been described as painstaking and
precise. Beginning with blood and
sperm cells, the team separated out the
23 pairs of chromosomes that hold human genes. Scientists then clipped bits
of DNA from every chromosome, identified the sequence of DNA bases in
each bit, and, finally, matched each
snippet up to the DNA on...