TIME: Almanac 1993/TIME Almanac 1993.iso/time/091790/0917510.000

Text File | 1992-08-28 | 8.1 KB | 188 lines

                                                                                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 medicine?

    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 your research?

    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 walked through.


    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 in severity?

    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 clinical setting?

    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 path is.