Guide to Genetic Counseling

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1A Guide to Genetic Counseling

Making Sense of Your Genes

a G u i d e t o G e n e t i c c o u n s e l i n G


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2Understanding Your Genes

ContentsWhat is genetic counseling? 1Why might I see a genetic counselor? 1

How can I prepare or a genetic counseling visit? 2

Prenatal genetic counseling 5

General and pediatric genetic counseling 8

Psychiatric genetic counseling 11

Cancer genetic counseling 13

Resources 18

Acknowledgements 20

Information included herein is not professional advice and is not intended to replace thejudgment of a practitioner with respect to particular patients, procedures, or practices. To theextent permissible under applicable laws, NSGC and Genetic Alliance disclaims responsibility for any injury and/or damage to persons or property as a result of any actual or alleged libelousstatements, infringement of intellectual property or other proprietary or privacy rights, or fromuse or operation of any ideas, instructions, procedures, products or methods contained in thematerial therein.


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Wh g g?

The goal o genetic counseling is to help you learn more about thecauses o genetic conditions and how they a ect you.

Genetic counselors can:

Review your amily and medical histories.

Explain how genetic conditions are passed down through amilies.

Figure out i you or your amily members are at risk or disease.

Find and give you in ormation about genetic conditions. O er guidance to help you make in ormed choices or li e plans.

Provide in ormation about testing options and help you decidewhat is best or you and your amily.

Help you fnd re errals to medical specialists, advocacy andsupport networks, and other resources.

Why m gh i g r? You might see a genetic counselor in many situations, such as:

You are pregnant or considering becoming pregnant and areconcerned about the health o your baby (See prenatal genetic counseling, page 5).

Your baby had an abnormal result rom newborn screening ( See

general and pediatric genetic counseling, page 8). You, your child or a amily member has been diagnosed with

a genetic condition (See general and pediatric genetic counseling, page 8).


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You are concerned that you, your child, or a amily member has agenetic or inherited condition and would like more in ormation(See general and pediatric genetic counseling, page 8).

Your amily has a history o developmental disability, birth de ects,and/or mental retardation (See general and pediatric genetic counseling, page 8).

Your amily has a history o mental illness (See psychiatric genetic

counseling, page 11). Your amily has a history o cancer (See cancer genetic counseling, page 13).

H w i pr p r f r g g v ?Although steps to prepare or specifctypes o visits are provided later in thisbooklet, here are a ew common areasto think about be ore your visit. Cometo the visit with a list o questions youwould like to ask. This will help thecounselor ocus on your concerns.Genetic counseling visits usually involve

collecting amily history in ormation.It can be use ul to ask your relatives about what types o medicalconditions occur in your amily be ore your visit. I you have medicalrecords relating to your concerns, you may want to bring them or askyour doctor to send them to the genetic counselor be ore your visit.


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A Guide to Genetic Counseling

What can you expect from your visit?At the beginning o the session, you and the genetic counselor should outline what to talk about in the session.Common topics include:

Talking about your amily health history and ethnic heritage.

Helping you understand the causes o genetic conditions.

Helping you understand testing options, diagnosis, or, in somecases, the reason why no diagnosis has been made.

Guiding you through decision-making about genetic testing,amily planning, or medical planning.

Helping you deal with emotions associated with having or not having a known genetic condition, having a relative with agenetic condition, or being at risk or a genetic condition.

Finding supportive resources to help you manage agenetic condition.

Understanding the chance o passing a genetic conditionon to your children.

Your input is very important to the genetic counseling session; thedetails you provide will allow the genetic counselor to understandyour health concerns ully.

A genetic counseling session is a conversation.

Your input is very important to the session.


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Understanding Your Genes

Questions you might ask your genetic counselor

Does the disease in question run in amilies?

I my amily member has a disease, might I get it?

I I have a disease, are my amily members at risk o getting it?

Is any kind o genetic testing available? I so, what are the beneftsand limitations o the testing? How will I pay or it?

What kind o in ormation can genetic testing give me?

What does the genetic testing process involve?

I I decide to have genetic testing or mysel or my child, when canI expect to hear about the results? Will the results be given to meover the phone or in person?

How can knowing more about a genetic risk help me?

Could I be exposing mysel or my amily to discrimination based ongenetic in ormation?


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Pr g g

What is prenatal genetic counseling?

Prenatal genetic counselors work with individuals, couples,or amilies who have an increased chance o having a childwith a birth de ect or genetic condition. Those who are alreadypregnant or are considering having a child in the uture canmeet with a prenatal genetic counselor to learn more about thecondition in question, understand their risks more clearly, and

discuss options or prenatal screening, testing, and/or assistedreproduction techniques such as sperm and egg donation. During pregnancy, i a baby is ound to have a birth de ect or geneticcondition you may be re erred to a prenatal genetic counselor. Thecounselor will help the expecting couple understand the medicalin ormation, what to expect, and how to prepare or the birth o a child with special needs, as well as discuss options such aspregnancy termination or adoption.

Prenatal counselors also help many amilies who do not have anincreased chance o having a child with a birth de ect or geneticcondition understand prenatal screening and testing options.Procedures such as blood tests and ultrasounds may be able togive a better idea i a developing baby has a chance o having birthde ects or a genetic condition.

Why see a prenatal genetic counselor?

You and your partner:

Are worried about a genetic condition or a disease that runsin your amily

Have a child who is a ected with a genetic condition andare thinking about having another child in the uture

Have amily members with mental retardation or birth de ects

Have a history o in ertility or pregnancy losses (miscarriagesor stillbirths)

Are concerned that your health or li estyle poses a riskto the pregnancy


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Are concerned about risks to the pregnancy associated withincreasing parental age

Receive abnormal prenatal screening or ultrasound results

Are concerned that you are at increased risk o being a carrier o a genetic condition because o your ethnic background (somediseases are more common in certain ethnicities)

Are pregnant and the baby has been diagnosed with a birth de ector genetic condition

Have taken a medication or drug during pregnancy or have beenexposed to a chemical and are concerned that it might cause aproblem or the baby

What can I do to prepare for my appointment?

The counselor will ask some questions about your amily andmedical history, so you may want to prepare a ew things be ore

your appointment. In ormation to bring with you might include: Your (or your partners) pregnancy history, including your current

and past pregnancies. The counselor may ask about:

- births and miscarriages

- terminations or abortions

- pregnancy complications

Your (and your partners) medical and health history:- major illnesses

- chronic conditions such as diabetes or heart disease

- medications you are taking

The health history o other members o your and your partners amily, including:

- children- siblings, hal -siblings,

and their children

- parents

- aunts- uncles

- frst cousins

- grandparents


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The counselor may ask i any o your relatives have had major illnesses or chronic conditions. I any o those relativeshave died, the counselor will probably asktheir ages and causes o their deaths.

The counselor may collect in ormationabout any miscarriages, stillbirths, and/or children who died young in either amily.The counselor may also ask i anyone inthe amily was born with a birth de ect or had developmental delays, learning disabilities, or mental retardation.

The counselor may also ask about your (and your partners) ethnicbackground or rom where your ancestors came (what country or part o the world). This is because some genetic conditions are morecommon in certain ethnic groups.

What will happen during my appointment?

Depending on the reason or the visit, some things a geneticcounselor may do during an appointment are:

Go over your amily and medical history with you

Figure out and explain your chances o having a child with specifcgenetic conditions

Help you explore and make decisions about your options or screening and testing be ore and during pregnancy

Help you interpret screening or testing results

Help you understand medical and genetic in ormation

Provide you with in ormation about any problems detected during

pregnancy and help you understand your options Provide counseling and emotional support

Re er you to support and advocacy networks


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Understanding Your Genes

G r p r g g

Why see a genetic counselor at a general genetics clinic?

General genetics clinics serve children, adults, and amilies withknown or suspected genetic conditions and birth de ects. Someclinics serve both children and adults; whereas, others serveprimarily children (pediatric genetics clinics) or adults (adultgenetics clinics). A team o physicians and genetic counselors areavailable to diagnose and provide support and help or those with

any genetic condition. Some amilies start out in a general geneticsclinic and, i a diagnosis can be made, they may then be re erred toa specialty clinic.

Some general genetics clinics provide outreach services to ruralareas. I you are ar rom a major medical center, contact your nearest center and ask about outreach programs. Some outreachprograms also specialize in prenatal services, in addition to the

genetic consultation services provided in a general clinic.


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It is best to start preparing a ew weeks in advance, i possible, soyou have enough time to gather all o the in ormation needed.

1. c y r r mp y to fnd out i the geneticcounseling consultation will be covered or i you may needto pay or some or all o the appointment.

2. F as much as you can about your amilys healthhistory. Talk to your amily members and try to fnd medical

in ormation about your siblings, parents, aunts, uncles,cousins, grandparents, children, and grandchildren. To fndout i a condition runs in the amily, the genetic counselor will ask questions that relate to the problems or which theperson was re erred.

3. G h r f y r m r rand, i possible, or anyamily members who may also be a ected by the particular

genetic condition.4. th k b br g g m ,either a riend or amily

member, with you or support and to help you remember allo the in ormation that will be provided to you.

5. Wr w y r q and concerns in advance. You may want to bring a notepad and pen to take notesduring the meeting.

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What will happen during my appointment?The genetic counseling session can last an hour or longer,and the in ormation covered will vary depending on the geneticcondition. (More complex cases could take longer.) Depending on the reason or the visit, some key things may happen during the counseling session:

I the patient, couple, or amily was re erred to the genetics clinic,

the genetic counselor will review the reason or re erral. The team will take a amily health history o at least three

generations, documenting all genetic conditions or healthproblems in each amily member.

A physician may provide a ull physical examination and decide onlaboratory tests to rule out or diagnose a genetic condition or re er you to other medical specialists.

The genetic counselor can provide supportive counseling andin ormation about resources or support networks.

The genetic counselor will explain the diagnosis and any issuesabout the condition, including how the condition is expected toprogress, the management o the condition, treatment options,whether genetic testing is available, and the chances o thecondition being present in uture pregnancies.

This may be done all in one counseling session or over the course o numerous sessions. The healthcare team may ask you to come back

or ollow-up appointments.

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P y h r g g Why see a psychiatricgenetic counselor?

I you have a personal or amilyhistory o a psychiatric or mentalhealth condition, the psychiatricgenetic counselor will help answer questions you have about the causeo the condition and the chance itcan happen again in your amily.These types o conditions mayinclude autism spectrum disorders,

depression, bipolar disorder, schizophrenia, and others. I you arepregnant or considering pregnancy, the counselor will discuss the

possibility o your children having a psychiatric condition, based onyour personal or amily health history. I you are pregnant and taking medications or a psychiatric illness, the genetic counselor can work with you and your mental health care provider to evaluatethe sa ety o the psychiatric medication during pregnancy.In general, genetic testing is not o ered during psychiatric geneticcounseling sessions.


To get the most out o the appointment, try to provide as muchin ormation as possible about the psychiatric conditions in your

amily. Try to fnd out about:

Your own mental health history and current status

Who in your amily has or had mental health conditions

The name(s) o the condition(s) that run in your amily, i known Ages that people in your amily began having symptoms and

were diagnosed


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What will happen during my appointment?

The genetic counseling session will probably last about an hour,and what is covered during the session will be di erent or each person. General things that are likely to occur during your appointment include:

The counselor will take a detailed amily history. The morein ormation you can gather, the better the counselor can study andshare the type(s) and pattern o psychiatric conditions that mayrun in your amily.

Using the amily history in ormation, the counselor will talkabout the likely cause o the illness in your amily. Some peopleare interested in talking about risks or themselves, their children, or other amily members to develop the condition or related conditions.

The counselor will explain the cause and symptoms o thecondition(s).

Although genetic testing is not yet available or most psychiatricconditions, the genetic counselor will explore with you how likely itis that other amily members might become ill.

The genetic counselor may also discuss environmental risk actorsin and outside o the home, what to look or in a young person atrisk or the condition, and when to seek treatment.

The genetic counselor can help you develop strategies or dealing emotionally with the risk in your amily and the uncertainty relatedto whether a amily member will or will not become ill.


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c r g g

Why see a cancer genetic counselor?

Some kinds o cancers run in amilies. I you have had cancer at ayoung age, had two or more separate cancers, or have several amilymembers that have had cancer, you may want to think about geneticcounseling and perhaps genetic testing.

A cancer genetic counselor will evaluate your amily health history

and talk about risks or inherited cancer, as well as screening and management or those at increased risk. I genetic testing isavailable, the counselor will tell you about the tests and help youdecide i testing would be use ul to you.

I you have had cancer, genetic testing may be use ul to you andyour medical team or making decisions about cancer management.

I you have not had cancer, it can help you understand your risk or cancer and the risks or other members o the amily.

In both cases, genetic testing may help you and your medical teammake decisions about cancer screening and cancer preventionmethods. It could also provide use ul in ormation or your amilymembers about their cancer risks.

A genetic counselor can also re er you to support resources or people with cancer, an increased chance o cancer, or amilyhistories o cancer.

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The counselor will ask you questions about your amilys healthhistory and your medical history. Here is some in ormation that willhelp the genetic counselor work with you:

S/he will ask about your own cancer experience, including type(s), part o the body a ected, and age o diagnosis. To better understand your cancer history, the counselor is likely to ask or access to your medical records. You should bring any medicalrecords or pathology reports related to your or your amilyscancers or cancer treatment, i possible.

Have any other members o your amily had cancer, and whattype o cancer did they have? Di erent types o cancer can runtogether in amilies.

What was the age o diagnosis or members o the amilywith cancer? Generally, the younger a person is when a cancer occurs, the more likely s/he is to have a orm o cancer that canrun in the amily.

It may also be help ul to talk with your amily about possiblegenetic tests.

Although testing is an individual decision, the tests can haveconsequences or members o your amily that do not have cancer.For example, a test result might mean that some relatives have ahigher risk or cancer than others.

It might be use ul or you to fnd out how your parents, siblings andchildren might eel about fnding out in ormation about inheritedcancer risk.


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Not all predispositions to cancer can be identifed by a genetic test.Even i a genetic test is available or a certain type o cancer, genetictesting is not help ul or all individuals.

You might also want to contact your insurance carrier about whether or not genetic counseling and testing is covered under your policy.The counselor will have in ormation about costs o the testing, butmay not know what your insurance will cover. O ten, the geneticcounselor can work with you and your insurance provider to explainthe medical importance o testing and determine your coverage

be ore you go orward with testing.


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What will happen during myappointment?

Every counselor has a di erentapproach. But, in general, a ew thingswill probably happen in the session.

The counselor will go over your amily health history with you. Some

counselors might get this in ormationrom you ahead o time, and somewill take the history with you in thesession. The counselor will

ask you some questions about the health o your amily members.This helps the counselor know what you might be at risk or, whileusing the in ormation to create a amily tree or your medicalrecords.

The counselor will talk to you about any cancers that you mightbe at risk or and the associated cancer screenings that youshould do. This can be very use ul, even i you decide againsttesting or i no testing is available. It can give you a good ideao what sort o screenings you should be doing and what youcan do to reduce your risk. I you are considered to be at highrisk, the counselor may talk to you about prophylactic surgeries(done to prevent a cancer, rather than treat one).

I testing is available, the counselor will have in ormationabout cost and possible benefts and harms o the testing.The counselor will also help you explore what the results o testing will mean or you.


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Cancer genetic testing is di erent rom some other types o testing because a positive test result does not always mean that you willget cancer. I you test positive or a variation in a cancer gene, itmeans you are more likely to get cancer.

Not all types o cancer are the samedi erent genetic tests meandi erent risks or di erent types o cancer.

I you decide to have a genetic test, the counselor will help you

arrange or the testing. S/he will also receive the results o the testand will contact you to explain your test results.

Depending on the counselor or institution, results may only begiven out at another in-person meeting. Some counselors or institutions will give results over the phone.

The counselor will also talk about the meaning o the results withyou, help you plan to talk about the results with amily members,and share the results with your medical team.

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R r

Other types o genetic counseling specialtiesbesides the ones listed in this book are available.These include:

Assisted Reproductive Technology/InfertilityGenetic Counseling ( or couples experiencing in ertility or who want to have genetic testing done on an embryo)

Cardiovascular Genetic Counseling (for peopleconcerned about their risk or various types o heart disease)

Metabolic Genetic Counseling (for children, adults, and their amilies who have genetic conditions a ecting the way they break

down (metabolize) certain substances in their body)

Neurogenetic Genetic Counseling (for people and families who

have inherited neurological conditions)To fnd a genetic counselor in your area, or in ormation abouta genetic counseling specialty, or or in ormation about geneticcounseling as a feld, visit www.nsgc.org


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For more in ormation on how to organize your amily healthhistory and construct a personalized amily health history report,visit www.familyhistory.hhs.gov

To learn about the Genetic Alliance Community CenteredFamily Health History project and access the Does it Runin the Family toolkit, visit www.geneticalliance.org/ccfhh

This guide is available as a PDF fle or ree download atwww.geneticalliance.org/publications


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This guide was produced as a partnership between the JohnsHopkins/National Human Genome Research Institute, GeneticAlliance, and the National Society of Genetic Counselors.

The Johns Hopkins University/National Human GenomeResearch Institute Genetic Counseling Training Program

Genetic Counseling class of 2008Melanie Baxter Julie S. Cohen

Gillian Hooker Mindy SimonsonMegan Truitt

Holly Peay, Assistant Director

Genetic Alliance

Sharon Terry, Executive Editor

James OLeary, Project Director

Amelia Chappelle, Project Director

Heather Ferguson, Associate Staff

Rebecca Sample, Intern

Hilary Andre ,Intern

National Society of Genetic Counselors

Angela Trepanier, Advisor and Reviewer President, 2008


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Independent advisors and reviewers

Lisa Schoyer Costello Syndrome Family Network

Michele ManionThe Primary Ciliary Dyskinesia Outreach Foundation

Deborah A. JacobsLowe Syndrome Association

Kristy ColvinInternational Mosaic Down Syndrome Association

Kimberly Craw ordNational Tay Sachs & Allied Diseases Association

Sandra Prucka, MS CGC

University of Alabama-BirminghamShonee Lesh, MS CGCRocky Mountain Cancer Centers

Robin Troxell, MS CGCUniversity of Missouri-Columbia

Kira Apse, ScM, CGC Autism ConsortiumHarvard Medical School

Deborah Axtell, MS CGCHoward County General Hospital


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4301 Connecticut Ave. NW, Suite 404, Washington, DC 20008-2369

Phone: 202.966.55577 Fax: 202.966.8553 [email protected]

401 N. Michigan Ave. Chicago, IL 60611

Phone: 312.321.6834 Fax: 312.673.6972 [email protected]

ISBN 978-0-9821622-0-0Published 2008

Creative Commons Attribution-No Derivative Works 3.0 United States License

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Guide to Genetic Counseling