Genetic counselors are health professionals who are trained to
help families understand genetic disorders and to provide
information and support to those families. They may also serve as
patient advocates by referring individuals or families to local
services that can be of assistance.
Genetic research is a powerful tool for treating medical
conditions, but it is still a new tool. Many people whose families
are affected by genetic disorders don't understand how it will
affect their lives. Even genetic researchers and doctors don't
fully understand how genes cause all genetic disorders. Genetic
counselors work with doctors and families to help families get the
information they need to understand the disorder.
Questions about genetic disorders
"My doctor told me that I will have
a blood test in my second trimester of pregnancy that can detect if
my baby has problems. This test is called maternal serum
alpha-fetoprotein screening. What is maternal serum
alpha-fetoprotein screening? What can it tell me?"
(MSAFP) screening is a blood test that looks at certain
proteins to screen for
certain types of birth defects like neural tube defects (such as
spina bifida) and Down syndrome in pregnancy. This test is
routinely offered to all pregnant women.
A genetic counselor plays an important role in helping expectant
mothers and their families understand the difference between a
screening and a diagnostic test. MSAFP is a screening test, so
further testing may be needed to confirm a
diagnosis. If the results from the
MSAFP screening are not within the normal range, the genetic
counselor can explain what
additional testing/procedures (including ultrasound and
amniocentesis) may be performed to diagnose the problem and
provide support for the parents. Genetic counselors can help
families understand the role that MSAFP screening plays in detecting
possible birth defects, as well as the risks,
benefits, and limitations of the additional testing.
"My son has a rare genetic disorder. Do you know any other
patients with this disorder that I could talk to?"
Genetic counselors are often part of a clinical team that can
help families answer this question. The first step in answering
this question is to clearly define what the rare genetic disorder
is. Genetic counselors will often collect information about the
relationship and health of other family members (called a
family history) as well as information about the
pregnancy, birth process, and early childhood development of a child
who is being evaluated. Sometimes genetic counselors will help
research the physical findings or learn which laboratories are best
able to help make a diagnosis for a family. However, occasionally even
with best efforts, it is difficult to clearly define the genetic
disorder that a child has.
Regardless of whether a disorder is clearly defined or not,
genetic counselors can often help families obtain support.
Sometimes, it is a matter of identifying local families who have
similar problems with parts of the disorder (such as a hearing or
learning problem). Other times, genetic counselors can help find
families in other parts of a state or even the country, especially
if the condition is rare. Often, genetic counselors will contact
their colleagues or tap into the Alliance of Genetic Support
Groups to help families with questions find each
"My father died last spring from
Huntington's disease. My father's sister and mother also had
this disease, and my doctor told me that there is a gene test available that
can tell me whether or not I will develop Huntington's disease. The
thing is, I dont know if I want to know and I'm worried
about what my insurance company will do if they learn that I do
carry the gene."
Genetic tests can determine how
likely someone is to develop certain diseases (such as someone with
a family history of breast cancer), or even whether or not they
will develop it (such as Huntington's disease). Huntington's disease is
a genetic disease that is caused by inheriting a change (mutation) in a certain
gene that causes anyone
who inherits this mutation to develop the condition. People in
families with a history of Huntington's disease now have the option
of learning whether or not they have inherited this gene
Because these tests are often performed on people who do not
have the disease themselves, there are a number of issues that are important to
discuss before testing is performed. A
genetic counselor is specifically trained to review the pros and
cons of the testing (such as the impact it may have
on a persons health insurance) and help each person come to a
decision that is best for him or her. This often means asking
questions such as whether or not the individual wants to know, what he or she might
do with the information, and how he or she might react to
"Many of my family members have had cancer and I am worried
about getting cancer myself. Is the cancer in my family inherited?
What are my chances of getting cancer and what types of screening
should I do?"
It can be valuable to look at one's family history
to determine whether the cancer in the family may have an
inherited component. Genetic counselors often work in clinics with
doctors (usually geneticists, oncologists, or gastroenterologists)
and focus on cancer risk. Having a family member with cancer does
not always mean that a person's cancer risk is high.
Collecting information about which family members had cancer, the type of cancer,
and the age of diagnosis helps genetic counselors assess the chances that the
cancer is inherited.
Genetic counselors also estimate the lifetime likelihood that an
individual will develop cancer based on the individual's
health and family history. The physician and genetic counselor provide
recommendations for screening; including the type of screening test
and the age at which an individual should be tested. For
some families, genetic testing may be available. Genetic testing,
usually performed with a blood sample, may provide
information about who in the family is at an increased risk for cancer
and who is at the average general population risk for developing
March of Dimes "genetic resource
directory" can help locate individuals and programs that can
act as resources and regional sites for genetic evaluation,
screening, diagnosis, treatment, management, and/or counseling.