TIME--The Weekly Newsmagazine--1994
Jan. 17, 1994 Genetics:The Future Is Now
SCIENCE, Page 54
Riding The DNA Trail
Francis Collins leads an international drive to track down all the genes
and take their measure
By J. Madeleine Nash/Bethesda
Dr. Francis Collins may not have been ready for Saturday Night Live, much
less prime time, but the University of Michigan students screamed with laughter
all the same. As the last class of the semester was ending, the 43-year-old
geneticist slipped an acoustic guitar from its battered case and in a reedy
tenor began warbling lyrics of his own invention to the tune of one of Frank
Sinatra's enduring hits. "So start today," Collins crooned into a microphone.
"Love DNA, and do it ouuuuurrr way." The star of this spoof stood 6 ft. 4 in.
tall. He wore cowboy boots beneath his white lab coat and slung a stethoscope
round his neck like a wayward tie. And as his last note faded, the delighted
audience gave him a standing ovation.
What the students could not have known was how bittersweet this moment
seemed to Collins. It marked the end of a remarkably rewarding and productive
period of his life and the beginning of an expedition into an exciting but
uncertain future. Last year, after months of deliberation, Collins left his
faculty post at the University of Michigan Medical School to lead the Human
Genome Project, an audacious effort to decipher the complete genetic script
contained in human cells. Collins considered it the most important under taking
in the history of biological research. He was moving from classroom gigs to the
Is Collins up to the role? If not, it is hard to imagine who would be. He
is a natural performer whose stage presence and easy eloquence make him a
persuasive spokesman for the multibillion-dollar genome project on Capitol Hill.
He is a workaholic who logs 100-hour weeks and flies more miles in a month than
most people do in a lifetime. He is an empathetic clinician who agonizes when
delivering a devastating diagnosis.
Above all, he is a relentless hunter of disease genes. Finding a gene
embedded in long, nearly featureless spirals of DNA, he likes to observe, is
harder than locating the proverbial needle in a haystack. "At least a needle
looks different from a haystack," he says, "but a gene is just another piece of
DNA." His love for lab work won't let Collins become merely a bureaucrat. He has
already established his own research center at the National Institutes of Health
so he and colleagues can continue their search for errant genes.
When people describe Collins, they do so in oddly contradictory terms. Thus
he is said to be one of the most compassionate people in the world, and also one
of the most aggressive. He is a skeptical prove-it-to-me scientist but is also
capable of deep religious faith. He is as intent on the impression he is making
as any politician up for re-election. Yet he appears to be utterly
unpretentious, preferring to dress casually in jeans and, when he rides his
Honda Nighthawk 750 motorcycle, a black leather jacket. (On one of his
motorcycle helmets he sticks decals that keep a running tally of every gene he
and his collaborators have tracked down, including the ones responsible for
cystic fibrosis and Huntington's disease.)
The youngest of four brothers, Collins grew up on a small farm in
Virginia's Shenandoah Valley. His father, in addition to raising cows and sheep,
was a serious musician who collected folk songs and taught at a nearby women's
college. His mother, who educated him at home until he was nine, wrote plays,
which were performed at a small theater the couple started in an oak grove on
their farm. "When Francis was seven," his father recalls, "he wrote a full
script for The Wizard of Oz and directed its performance." He played bluegrass
and Bach on the pump organ and guitar, and he would spend hours pondering the
consequences of dividing numbers by zero.
By the time Collins graduated from high school, at 16, he was determined to
become a chemist. Biology, curiously, did not interest him at all. "Somehow," he
muses, ``I had the notion that life was chaotic and that whatever principles
governed it were unpredictable." This prejudice stayed with him through his
undergraduate years at the University of Virginia, where he excelled in the hard
sciences and avoided biology as if it were basket weaving. But as a Yale Ph.D.
candidate in physical chemistry, he took biochemistry, encountering for the
first time DNA and RNA, the molecules that carry the code of life. "I was," he
says, "completely blown away."
Increasingly restless, Collins began to wonder whether he should devote his
days to arcane research that had little immediate impact on other people. So
while completing his doctoral dissertation in physical chemistry, Collins
enrolled in medical school at the University of North Carolina. A three-week
course hooked him on medical genetics, a specialty that let him be both
humanitarian and researcher.
By 1984, when Collins signed on as a junior faculty member at Michigan, he
had been married for 15 years to his high school sweetheart and had two
daughters, ages 14 and 10. Just as important to him, he had become a devout
Christian, focusing on what had previously seemed an irrelevant corner of life.
While living in the campus town of Ann Arbor, Collins and his wife helped start
a Baptist church. The congregation--and his marriage--has since dissolved, but
his faith, which he describes as basically nondenominational, endures.
The search for spiritual fulfillment has led Collins in unexpected
directions. Twice, in the company of his daughter Margaret, a medical student,
he has traveled to Nigeria to treat patients in a small missionary hospital. The
first time, he and his colleagues were closing in on the cystic-fibrosis gene,
and yet at that critical moment Collins risked leaving his laboratory. Once in
Nigeria, he agonized over whether his presence there made any difference at all.
Then a farmer appeared, suffering signs of imminent heart failure. Collins dared
a procedure he had never tried before, plunging a needle deep into the man's
chest to draw off the fluid that was apparently pressing on the heart. "Dr.
Collins," the patient said later after recovering, "I know you're wondering why
you are here. I believe you were sent here just for me, because without you I
would have died."
Medicine, science and religion--in Francis Collins these disparate worlds
daily connect and sometimes collide. Personally Collins is distressed by
abortion, a common outcome of prenatal screening for genetic defects. Yet as a
geneticist he honors a code of professional ethics that demands he hide from
patients his own feelings of right and wrong. As the discoveries of disease
genes move from the lethal maladies of early childhood to the lingering ailments
of advanced adulthood, Collins confesses an increasing level of personal
discomfort. In talks he gives on Huntington's disease, he invariably shows a
slide of the folk singer Woody Guthrie, "one of my heroes." He goes on to
explain that Guthrie died of Huntington's, but he leaves unspoken the terrible
questions: Was Guthrie's life not worth living? If he had been aborted, wouldn't
it have been everyone's loss?
Even as Collins leads the genetic revolution, he refuses to downplay its
dangers. He is worried that private genetic information will be too readily
available to insurance companies and employers. He worries about telling
patients they have the gene for Alzheimer's but then offering them no cure. He
worries about the "slippery slope" that could lead couples to abort fetuses with
merely undesirable characteristics--obesity, for example, or the wrong sex. "The
use of this technology for sex selection," Collins exclaims, "insults the
reasons I went into genetics in the first place. Sex is not a disease but a
Counterbalancing Collins' deep concerns, however, is his passionate
conviction that the new genetic discoveries bode more good than ill and that a
reasonable society will curb abuses. "These are exciting times," he declares,
"and the consequences for clinical medicine will be dramatic." Now that he has
taken on the genome project, Collins can do more than imagine those
consequences. He has an unparalleled opportunity to help shape them.
Copyright (c) TIME Magazine, 1995 TIME Inc. Magazine Company; (c) 1995 Compact Publishing, Inc.
TIME--The Weekly Newsmagazine--1990
Sep. 17, 1990 The Rotting Of The Big Apple
INTERVIEW, Page 11
Tracking Down Killer Genes
Francis Collins is finding new ways to trace the origins of disease. But he
agonizes over the implications of this brave new world of medicine.
By J. Madeleine Nash/Ann Arbor and Francis Collins
Q. You just found the gene for neurofibromatosis, often confused with
Elephant Man's disease. A year ago, you were instrumental in finding the gene
that triggers cystic fibrosis. How will such discoveries affect the practice of
A. They will transform medicine in ways we can't even predict. I'm sure
that a hundred years from now, people will look back on this era and shake their
heads in disbelief in the same way that we look back on arsenic treatments for
syphilis in the previous century. But that's in the long run. It's sort of a
paradox. Here we have a field of research that I believe will totally change the
face of medicine. The timetable is going to be slow enough that to the average
person it won't seem like a revolution at all.
Q. But how will it be different?
A. There is going to be a shift away from a therapeutic sort of medicine,
where you treat someone who is already ill, to a medicine where you identify the
risks a particular individual has for developing certain diseases and then try
to prevent that person from ever becoming ill. Ironically, one of the first
consequences of a better understanding of genetics will be an emphasis on
altering the environmental contribution to disease because that's a lot easier
to change. If you know you are at high risk for lung cancer, your motivation to
stop smoking will increase.
Q. You are both a scientist and a physician. Does seeing patients affect
A. It adds a sense of urgency. The cystic fibrosis gene has been found now
for a year, and in that year 1,000 people have died, including people I knew
personally. That is both troubling and motivating. You can't sit back and treat
what you do as an intellectual exercise when the mere mention of a disease
brings to your mind the faces of people you care about. That's why it's
important to have a certain percentage of people working in this field who are
comfortable with both basic science and clinical medicine. If we don't, we are
going to miss out on opportunities to apply this new information.
Q. Many people find the notion of genetic testing scary. Should they?
A. When you go to your doctor and have your cholesterol measured, what's
really being measured is your genes. We as a society seem quite comfortable with
screening for cholesterol and then using that information to alter behavior. No
one would argue that testing for cholesterol is opening a Pandora's box. So we
have already started down this path. Like it or not, we have opened the door and
Q. Surely you must have some concerns?
A. Here we are, poised on the threshold of widespread genetic screening
that should be beneficial to people. Yet we are talking about carrying this out
on a population that is largely uninformed about genetics. Those of us involved
in genetic counseling are appalled by the scale of the problem.
Q. What kinds of things might go wrong?
A. We have the disturbing example of sickle-cell anemia to prove to us that
if we don't include explanations and education and counseling in a screening
program, we will end up doing more harm than good. An awful lot of people were
found to be sickle-cell carriers, with no significant risk to their own health,
but they wound up believing that eventually they would become ill. Insurers
canceled policies. It is terrifying to look back on this experience, and a good
reason to go slow on screening for cystic fibrosis.
Q. Couldn't genetic screening also be misused by affluent individuals to
create superior children, thereby increasing social inequalities?
A. The notion of yuppie couples' picking the child with the highest IQ out
of the 10 or 12 possibilities they might be able to generate through, say, in
vitro fertilization is not worth spending a lot of time on. Intelligence is very
complex. We can't even define it. It is not at all clear to me that a real grasp
of the genes responsible for intelligence is going to come about, certainly not
during the next hundred years. Athletic ability? That's even worse. Are we
talking physical strength or height or quickness, and what do those traits mean?
We should be focusing on scenarios that are closer to home.
Q. Such as?
A. It is important to make a distinction between a life-threatening disease
and a trait. In our society, prenatal diagnosis followed by pregnancy
termination has been deemed acceptable when the consequences to the unborn child
are devastating disease and early death. But now we come to sex selection. Sex
is not a disease. Yet it is possible, using simple diagnostic techniques, to
determine the sex of an unborn child well before the time when pregnancy
termination is no longer allowable. There are certainly instances in genetics
clinics where couples come in with just that idea in mind. Legally there is
nothing criminal about what these couples are proposing. But to me, and I
suspect to the majority of the American population, this is troubling, even
repugnant. It affronts me.
Q. What about diseases that may not strike until late in life, or that vary
A. This is where it gets muddy, and everyone is going to draw the line
differently. Consider the situation with manic-depressive illness, a reasonably
common disorder. It is clearly genetically influenced, though not in a simple
way. Now, manic-depressive illness can be a terrible cross to bear. The swings
into depression are awful, and the highs can be very destructive. Yet a
substantial number of highly creative people have suffered from this disease.
Suppose we find the gene responsible for manic depression. If every couple has a
prenatal test to determine if a fetus is at risk for manic depression, and if
every time the answer is yes that fetus is done away with, then we will have
done something troubling, something with large consequences. Is this what we
want to do?
Q. Where do you draw the line?
A. Because of my own religious background [Baptist], I will be on one end
of the spectrum arguing against the use of this information too broadly for
fetal selection. And that really highlights that we're not talking about a
scientific issue. Scientists have the capacity to understand and explain what it
is possible to do. But they are not in a unique position to be saying what is
proper, moral and ethical to do. We are in an awkward situation right now
because those who have the most experience in philosophical and religious
spheres are not well informed about the scientific facts. We need to get
ourselves together and teach each other something.
Q. Personally you do not approve of abortion. How do you handle this in a
A. It is a sacred and unbreakable rule that genetic counselors avoid
imposing their own value systems. If a patient struggling with a terrible
decision asks me, what would I do, I don't answer. I must not answer. The
consequence of taking that rather hard-line view is that I can tell you of
situations where couples have taken information I have helped them get, and then
done with that information things that horrify me.
Q. When will gene therapy start providing couples with better options?
A. It's conceivable that we'll have effective treatments for some of these
diseases in the next 10 to 15 years, but I couldn't swear to it. The problem is,
we're just starting down this path, feeling our way in the dark. We have a small
lantern in the form of a gene, but the lantern doesn't penetrate more than a
couple of hundred feet. We don't know whether we're going to encounter chasms,
rock walls or mountain ranges along the way. We don't even know how long the
Copyright (c) TIME Magazine, 1995 TIME Inc. Magazine Company; (c) 1995 Compact Publishing, Inc.