||Say genetics and Gregor Mendel and his peas
probably arent the first thing to pop into mind anymore. These
days, the human genome project, stem cell research, DNA testing, and
inherited diseases may all come to mind, crowding together in a confusion
of information. Our knowledge of genetics has surely increasedbut
do we know what to do with that knowledge?
A woman with a strong history of breast cancer
in her family doesnt want to be tested for the BRCA 1 or BRCA
2 genes. Should she be? If her sister gets tested, should the sister
share the results of her test?
A man wants to undergo a predictive test for Huntingtons
disease. But does he want the test and its results included on his medical
And a case recently reported in the New York Times: Embryos created
in a lab were tested for a rare, early-onset form of Alzheimers
disease carried by the mother. A healthy embryo was then implanted in
the mothers uterus. But the mother will likely develop Alzheimers
within the next few years, leaving her unable to care for her child. Should
ethicists and others be involved in such a decision?
Some decisions have legal and ethical ramifications; most have medical
and emotional implications. And all involve deciphering sometimes complex
genetic information as well as assessing an individuals risks and
life quality. Which is why business is booming for genetic counselors,
those who guide patients through this maze.
Genetic disorders are caused by mutationsa change in the DNA sequencein
a gene or set of genes. Mutations can occur at any time. And not all genetic
abnormalities are inherited. Thus, the wide range of conditions and diseases
And, as Bonnie Baty, a genetic counselor in the Department of Pediatrics
at the University, points out, People are living longer, so the
conditions for which only a childhood life expectancy was once projected
now stay with us longer. And more genes are being discovered. As
a result, genetic counseling, which began as a pediatric specialty, is
now a standard part of several specialties, including oncology, neurology,
and gerontology. A genetic counselors job is a communication function,
a combination of explaining medical information and helping patients decide
what that medical information means for them.
In Utah, there are 15 genetic counselorsfour in pediatrics, three
in obstetrics, four at the Huntsman Cancer Institute, one in radiology,
two at Myriad Genetics, and one currently working on a doctorateall
in Salt Lake City, who work with people around the state. Genetic counselors
must be licensed in Utah, the second state to enact licensure and the
first to actually implement it.
Many genetic counselorsincluding the three who spoke to Continuumhad
a biology focus in their undergraduate studies but wanted more human contact
than lab work offered. About 25 masters programs in genetic counseling
exist throughout the country, with a curriculum composed of a mix of medical
genetics, counseling, and education.
Still, when it comes to genetics, the education, training, and licensing
dont always prepare counselors for scenarios that can outpace imaginations.
Genetic mutations are, after all, mutationsunpredictable by their
Lisa Wadge, a genetic counselor who specializes in familial
breast cancer and melanoma at the Huntsman Cancer Institute, recalls a
patient who discovered she had a gene mutation that put her at a higher
risk for breast and ovarian cancer. After much thought, the patient decided
to have prophylactic surgery to remove both breasts as well as her ovaries.
But she died within a yearof a different kind of cancer.
Maureen Cantwell, a genetic counselor specializing in perinatal genetics,
remembers one patient whose amniocentesis revealed an abnormal chromosome
result. Cantwell briefly discussed the result with the patient by phone
and scheduled an appointment. But at the meeting, the patient and her
husband came in with other newsthe fetus had died. Some sessions
become crisis counseling sessions, says Cantwell.
The creed of genetic counseling is that counselors are to
be nondirective. It stems from the old connection between eugenics
and genetics, says Baty. In the early part of the 20th century,
there was involuntary sterilization for traits like drunkenness
or poverty. So there was a backlash against genetic counseling because
of the inequity of powerthat is, that these so-called scientists
were giving more than advice.
But being nondirective is not so simple. Some patients are looking for
direction. Some quickly make decisions that seem to fly in the face of
the genetic information offered. (One patient of Cantwells simply
got up and left just as Cantwell started her explanation.) To be
a genetic counselor, you have to be open-minded and accepting of others
belief systems, says Cantwell. I always stress that the final
decision about testing is the patients. Wadge agrees. You
try to realize what your biases are when youre counseling,
At the same time, given the nuances of communication techniques, what
constitutes nondirectiveness is sometimes a matter of interpretation.
A session with expectant parents, children of a parent with alzheimers
disease, or a family at risk for colon cancer involves a delicate give
and take. The tone of voice or the choice of words can hint at what
you think, says Wadge. As Baty points out, simply modeling how a
patient might approach a decision can easily become coaching that patient
about what to do.
Additionally, the nature of the genetic information does not always lend
itself to a definite course of action, whether its a positive result
to a maternal serum screen or a sketchy family history of cancer. For
example, a prenatal test may show the presence of fragile X syndrome in
the female fetus. One-third of girls with fragile X will develop significant
behavioral problems or developmental disabilities; two-thirds will not.
But the test wont show which group a particular fetus will fall
into, or what kind of problemsfrom mild to seriousmight develop.
Its very common that you dont have precise information
to give a patient, says Baty. The family wants a diagnosis,
but you dont have one. In fact, Baty mentions one study which
showed that patients whose tests revealed more definite information were
more satisfied with their overall treatment, including that by genetic
counselors; those whose tests showed less definite results were less satisfied,
regardless of the sensitivity and care shown by doctors and counselors.
A patient trying to make sense of the unsettling or confusing results
of a genetic test has to consider another difficult question: who else
should know the results? The patients family? Insurance company?
A 1998 study by the National Center for Genome Resources found that 63
percent of respondents would be inclined not to take genetic tests if
results were accessible to employers or insurers. That fear of retaliatory
action because of genetic test results led to President Clintons
2000 executive order prohibiting discrimination in federal employment
based on genetic information. In addition, most states have laws prohibiting
insurers from discriminatory practices based on information from genetic
tests, and many have genetic employment discrimination laws. Utah, which
had been one of the few without an anti-discrimination law, just passed
one during the 2002 legislative session.
Still, as Baty points out, the reality of peoples lives is more
complex than a law. I know one woman who was fired for being tested,
even though she was asymptomatic. The Americans with Disabilities Act
covers such situations, but not every patient wants to pursue a long process
of seeking redress, especially if theyve received a terminal diagnosis,
she says. And lots of people dont get tested simply because
Decisions about whether to tell family members of the results of a test
can be even trickier. As Wadge, who specializes in familial breast cancer,
says, The first person tested might get the information s/he wants,
but do the others in the family want to know? One persons results
will impact the whole family. What if its the black sheep
who is the only one who carries the mutation? Patients need to think about
the existing issues within the family and how this information will affect
those issues. Adds Cantwell, There are lots of different kinds
of patientssome are information seekers and some are information
Complicating this scenario is the fact that counselors may have met with
other members of the family and know information that could affect one
members decision. But because the counseling sessions are confidential,
the counselor may not be able to share the information. Add to that the
fundamental premise of being nondirective, and counselors may find themselves
in an ethical quagmire.Part of what we help people do is gather
information, then we help the person assess whether that information makes
a difference to them, says Baty. It really depends on individual
circumstances. Im always concerned about the psychological risk
Few counselors pretend that the mixture of medical information and psychological
counseling presented in a session will end a patients fears or answer
all questions. But with the accelerated pace of genetic discoveries, they
find that for most patients, an expert translation of technical terminology
and a set of thoughtful risk-assessment questions offers real relief.
The way I look at it, says Baty, the person has a difficult
situation whether Im there or not. So I can use my skills to help.
I cant take away the sadness, but I can help them gain something.
Theresa Desmond is editor of Continuum.