ethics

New Genetic Counseling

policy

Program at Stanford
School of Medicine

Credit: U.S. Department of Energy Human Genome Program, http://www.ornl.gov/hgmis

A new generation of genetic counselors
will help transfer knowledge from the
lab to the patient
by Hanh Nguyen

W
hat’s in your body’s future? Individuals now
have the option to discover their disposition
for genetic disorders such as cancer even
before they develop symptoms. By combining
the genetics laboratory with the doctor’s office, patients are
now able to have a better understanding of the influence of
their genes on their health.

Genes and Genetics

In 2004, the human genome was mapped. Scientists can
identify many genes in our bodies as well as their variations
that predispose individuals to certain medical issues. For
example, BRCA1 and BRCA2 are two genes that, when
mutated, greatly increase a person’s risk for developing
breast cancer. Combined with the wealth of information
provided by the human genome project, genetic tests that
analyze portions of a patient’s DNA sequence can help
individuals determine their chances of developing terminal
or disabling diseases.
This information, however, often comes in the form of
complex sequences of genes that contribute to disease risk
in many different ways. Some genes may partially add to a
Unfortunately, many doctors are not fully familiar with
the genetic map, since it is primarily constructed by research
scientists. Researchers themselves are also not fully equipped
to interface with patients, as their jobs focus on research as
opposed to counseling and patient rapport. Who, then, can
balance the sympathy of a doctor with the knowledge of a
researcher? “There is a real need for genetic counselors
to kind of translate all this information that we’re getting
from genetic testing to families,” notes Louanne Hudgins,
Professor of Pediatrics and one of the key contributors to this
program. “There are only currently three genetic counseling
programs in the western US.”

A genetic map for cancer has many paths, pit stops, and forks, and
patients—mainly those who have a family history of cancer—are faced with
the challenge of navigating this map given their genetic information.
disease risk only in the presence of certain environmental A New Generation of Counselors
factors or another specific gene. A genetic map for cancer In response to this dilemma, the Stanford School of
has many paths, pit stops, and forks, and patients—mainly Medicine has established a new Master of Science program
those who have a family history of cancer—are faced with in Genetic Counseling. Stanford’s program, a collaboration
the challenge of navigating this map given their genetic between the Department of Genetics and the Department
information. of Pediatrics, will be the only one of its kind in Northern

60 stanford scientific

Many genes involved in human disease have been mapped to specific locations on the 23
chromosomes. This schematic of chromosome 17 illustrates that some genes that are contained
within it are implicated in different human diseases including breast cancer.
Photo Credit: U.S. Department of Energy Genome Programs, http://genomics.energy.gov
California. “Stanford has a very strong clinical program
with general genetics, metabolic genetics, prenatal genetics,
cancer genetics, and biomedical ethics,” says Hudgins.
“Because of that, we thought that we could really develop a
great program in genetic counseling here.”
The program will begin in the fall of 2008. Each year, six
students will be trained how to interpret genetic tests and
transfer knowledge from the laboratories to the patients,
helping them understand and deal with the test results.
“Stanford’s strengths are really a strong clinical program: we
have a cytogenetics lab to look at chromosome abnormalities,
a molecular lab to do molecular testing, and a very strong
biochemical genetics lab as well,” says Hudgins. “That’s
what makes [the Genetic Counseling Program] unique.”
In short, the counselors will transfer knowledge from the
laboratories to the doctor’s office. “Genetic counselors
work with physicians, contact the family of a patient to get
a complete family history, take a medical history and decide
what records are needed,” explains Hudgins. “They continue
to work with a physician, and finally after a diagnosis is
made, they actually can do the genetic counseling.”
layout design: Stephanie Le
ethics
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From the Patient’s Point of View policy
According to studies published
in the Journal of Clinical Oncology,
more than half of the women surveyed would
seek testing for cancer-causing mutations if
their family history indicates a 50% percent
risk of genetic inheritance. Not surprisingly,
six months after testing, women who receive
an uninformative or positive test report higher
levels of distress that those with negative tests.
This is where the genetic counselor steps in;
he/she can provide support to help alleviate
the anxiety.
Along with moral support, the role of a
genetic counselor is to help patients decide
what to do next. Women at risk for breast
cancer have more than one preventive option
to choose from: periodical breast MRIs for
reliable tumor screenings, or breast removal
to avoid the disease completely. Genetic
counselors aim to present these treatment
options objectively and optimistically. “There
would be some stress when a woman finds out
that she carries a breast cancer gene,” elaborates
Hudgins, “but then she would know, ‘I am at
risk, but I can take control. I can have very
vigorous screening or I can have a masectomy.’
It may even be more stressful to always wonder
about your genetic status if you know you have
a family history of cancer.”
“It’s always a choice [for individuals to
be tested],” notes Hudgins, “and for things
like that we always make sure that people
understood the implications before they took
the test.” Counselors help patients put their
genetic profiles in perspective. For example,
some genetically inherited risks are very low,
and genetic counselors can help patients understand the
bigger picture of their health concerns. “If you find out that
you carry a gene that makes you even more susceptible,”
adds Hudgins, “Then maybe you’ll try that much harder
to take good care of yourself, to watch your diet and make
healthier choices.” S
HANH NGUYEN is a sophomore who finds inner balance through espressos
and feeding waterfowl. She is majoring in Biology and Chinese.
To Learn More
Visit Stanford’s genetic counseling website: http://cancer.
stanfordhospital.com/forPatients/services/geneticCounseling
Read Matloff ET, Shappell H, Brierley K, et al. What would you do?
Specialists’ perspectives on cancer genetic testing, prophylactic
surgery, and insurance discrimination. J Clin Oncol 2000;18:2484-92.
Read Schwartz MD, Peshkin BN, Hughes C, et al. Impact of BRCA1/
BRCA2 Mutation Testing on Psychologic Distress in a Clinic-Based
Sample. J Clin Oncol 2002;20:514-20.
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