Making Sense of Your Genes: A Guide to Genetic Counseling
This is an excerpt from Making Sense of Your Genes: A Guide to Genetic Counseling. The
full guide can be found at www.geneticalliance.org/publications.
What Is Genetic Counseling?
The goal of genetic counseling is to help you learn more about the causes of genetic
conditions and how they affect you.
Genetic counselors can:
Review your family and medical histories
Explain how genetic conditions are passed down through families
Figure out whether you or your family members are at risk for disease
Find and give you information about genetic conditions
Offer guidance to help you make informed choices or life plans
Provide information about testing options and help you decide what is best for
you and your family
Help you find referrals to medical specialists, advocacy and support networks,
and other resources
Why Might I See A Genetic Counselor?
You might see a genetic counselor in many situations, such as:
You are pregnant or considering becoming pregnant and are concerned about the
health of your baby
Your baby had an abnormal result from newborn screening
You, your child, or a family member has been diagnosed with a genetic
condition
You are concerned that you, your child, or a family member has a genetic or
inherited condition and you would like more information
Your family has a history of developmental disability, birth defects, and/or
mental retardation
Your family has a history of mental illness
Your family has a history of cancer
How Can I Prepare For A Genetic Counseling Visit?
Although steps to prepare for specific types of visits are provided later in this
booklet, here are a few common areas to think about before your visit. Come to the visit
with a list of questions you would like to ask. This will help the counselor focus on
your concerns. Genetic counseling visits usually involve collecting family history
information. It can be useful to ask your relatives about what types of medical
conditions occur in your family before your visit. If you have medical records relating
to your concerns, you may want to bring them or ask your doctor to send them to the
genetic counselor before your visit.
What Can You Expect From Your Visit?
At the beginning of the session, you and the genetic counselor should outline what to
talk about in the session. Common topics include:
Talking about your family health history and ethnic heritage
Helping you understand the causes of genetic conditions
Helping you understand testing options, diagnosis, or, in some cases, the reason
why no diagnosis has been made
Guiding you through decision-making about genetic testing, family planning, or
medical planning
Helping you deal with emotions associated with having or not having a known
genetic condition, having a relative with a genetic condition, or being at risk
for a genetic condition
Finding supportive resources to help you manage a genetic condition
Understanding the chance of passing a genetic condition on to your children
Your input is very important to the genetic counseling session; the details you provide
will allow the genetic counselor to understand your health concerns fully.
Questions You Might Ask Your Genetic Counselor
Does the disease in question run in families?
If my family member has a disease, might I get it?
If I have a disease, are my family members at risk of getting it?
Is any kind of genetic testing available? If so, what are the benefits and
limitations of the testing? How will I pay for it?
What kind of information can genetic testing give me?
What does the genetic testing process involve?
Will the results be given to me over the phone or in person?
How can knowing more about a genetic risk help me?
Could I be exposing my family or myself to discrimination based on genetic
information?
Reference
Genetic Alliance, Making Sense of Your Genes: A
Guide to Genetic Counseling www.geneticalliance.org/publications. [
PubMed: 23304750]
Resources
Genetic Alliance
www.geneticalliance.org/familyhealthhistory.
National Society of Genetic Counselors
www.nsgc.org.
U.S. Surgeon General’s Family History
Initiative www.hhs.gov/familyhistory.
