is Genetic Counseling?
Amy Adams, MS
by Kari Danziger,
MS, CGC; Jennifer
Graham, MS, CGC; Larry
Prensky, MS, CGC, CCGC
Last Updated April 11, 2011
researchers are learning more about the genetics of
common diseases and how those diseases run in families.
If you have an inherited disease
in your family, a genetic counseling session can help
you understand your personal risk or the risk for other
family members. It can also help you learn what testing,
surveillance, prevention strategies, or research trials
may be right for your situation. In most cases, a genetic
counselor will lead the session, but some nurses,
doctors, and medical geneticists
are also trained to do genetic counseling.
What Is A Genetic Counselor?
a genetic counselor has a masters degree in genetic
counseling and has studied genetic diseases and how
those diseases run in families. The genetic counselor
can help a person or family understand their risk for
genetic conditions (such as cystic fibrosis, cancer,
or Down syndrome), educate the person or family about
that disease, and assess the risk of passing those diseases
on to children.
genetic counselor will often work with families to identify
members who are at risk. If it is appropriate, they
will discuss genetic
testing, coordinate any testing, interpret test
results, and review all additional testing, surveillance,
surgical, or research options that are available to
members of the family.
counselors often work as part of a health care team
in conjunction with specially trained doctors, social
workers, nurses, medical geneticists, or other specialists
to help families make informed decisions about their
health. They also work as patient advocates, helping
individuals receive additional support and services
for their health care needs.
Sees A Genetic Counselor?
person who may have a genetic condition, has a family
history of an inherited disease, or has other risk factors
for a genetic condition or birth defect may benefit
from seeing a genetic counselor. If a person's family
history indicates the possibility of an inherited disease,
their doctor may give them a referral. Some
pregnant women may also be referred to genetic counselors
to receive counseling about the risks of birth defects
or for help in interpreting test results. Pregnant women
older than 35 are especially likely to see a genetic
counselor because it is standard for them to be offered
amniocentesis due to their increased risk of having
a baby with a chromosomal abnormality such as Down syndrome.
you are unsure about whether you would benefit from
genetic counseling, Genetic Health's TreeBuilder tool
can help clarify whether you have an increased risk
for certain genetic conditions like cancer, diabetes,
or heart disease.
Build Your Family Tree With TreeBuilder
Happens at A Genetic Counseling Session?
assess your risk for an inherited condition, a genetic
counselor needs to know medical information about you
and your family. In some cases, you may need to provide
this information when you make the appointment. The
genetic counselor will often take a more detailed family
medical history and use this information to generate
a family tree, which shows all of your relatives, their
relationship to you, and diseases they had. This diagram
helps the genetic counselor determine your risk for
inherited diseases. If you do have an increased risk,
the counselor will make sure that you understand the
basic genetic concepts that affect how the disease runs
in families, educate you about the disease itself, and
explain the level of risk for you and your family.
Family Tree for A Family With the Inherited Syndrome
an initial appointment, the genetic counselor may need
more information in order to make a final risk assessment.
For example, they may need to know results of a pathology
report on a relative's tumor, or the exact age when
a relative developed a disease. They may also need to
review medical records for a relative to clarify a diagnosis.
the counselor has established your risk, he or she may
discuss options such as genetic tests if they
are available that may help clarify whether you
or members of your family carry a genetic mutation
that increases your risk for a particular disease. If
there is an appropriate test, the counselor will discuss
in detail what information it can give, the risks, benefits,
limitations, and other possible consequences of being
tested. They also provide detailed follow-up to be sure
that you understand what the results mean. Even if genetic
testing is not appropriate for your situation, the counselor
will help you understand other options to reduce your
risk (such as having ovaries removed in women at risk
for ovarian cancer) or lifestyle changes that may help
your situation. In many cases, the medical team will
be involved in designing a plan of action for continued
genetic counseling session will usually last at least
an hour if not longer. Although some people may only
require one session, others will require several sessions
if they are pursuing genetic testing or for additional
not to Expect From A Genetic Counseling Session
counseling sessions do not include:
testing or procedures that you do not explicitly approve.
A genetic counselor will carefully explain to you
any tests that are possible for your situation. However,
they cannot have the test done until you give written
consent that you understand and want that particular
test. The genetic counselor can not draw blood or
use your DNA
or test results without your permission.
In most cases, genetic counselors are not medical
doctors and do not write prescriptions.
A genetic counselor will try to make sure that you
fully understand the risks, benefits, and possible
consequences of every option that is available to
you. However, the genetic counselor will not make
medical decisions for you.
psychological care. Although many genetic counseling
sessions include follow-up sessions to be sure that
you are able to handle new information about your
health, most genetic counselors are not trained to
provide long-term psychological care. For example,
if results from a genetic test cause emotional problems
that disrupt your daily life, the genetic counselor
will most likely refer you to a mental health counselor,
support group, or other sources of support for your
Can I Prepare for A Genetic Counseling Session?
best way to prepare for a genetic counseling session
for adult onset diseases such as cancer,
heart disease, or diabetes is to
find out as much as you can about your family medical
history. Talk to your family members and try to find
medical information about your siblings, parents, aunts
and uncles, cousins, grandparents, children, and grandchildren.
At minimum, this information should include:
relation to each family member, including whether
family members are adopted or half-relatives
health conditions that affect each family member such
as cancer, diabetes, or heart disease
age of onset for each condition
of death (where relevant)
family members had a child with a blood relative
to confirm each health condition that affects family
members. In many cases, your risk may be different depending
on exactly what condition your family member had. For
example, if you think that a relative had lung cancer
when in fact they had breast cancer, it could seriously
affect the accuracy of your risk assessment.
to Find A Genetic Counselor
many cases, a doctor will refer you to a genetic counselor
if it is appropriate for your condition. However, you
may be in a situation where you are seeking genetic
counseling on your own. Most genetic counselors are
associated with a hospital, clinic, or research group.
You can try calling your local medical group or clinic.
You may also be able to find a genetic counselor through
resources such as the National Society of Genetic Counselors.
on Finding A Genetic Conselor
to Find Additional Support
counselors are trained to provide support for people coping
with genetic diseases. However, in many cases people may
need long-term support, or support from people going through
a similar experience. In these cases, the genetic counselor
may be able to recommend support groups for your particular
situation. Support groups vary widely in their scope and
focus. Also organizations for your particular disease
such as the American Heart Association, American
Diabetes Association, or American Cancer Society
often list support groups.
on Support Groups
Society of Genetic Counselors
Genetic Alliance contains a database of support groups.
BB and Marteau, TM. (1999) The future of genetic counseling:
an international perspective. Nat Genetics, 22(2):133-7.
Schneider, KA. (1994) Counseling About Cancer: Strategies
for Genetic Counselors. Massachusetts: Graphic Illusions.
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