By Amy Adams, MS

Reviewed by Kari Danziger, MS, CGC; Jennifer Graham, MS, CGC; Larry Prensky, MS, CGC, CCGC
Last Updated December 4, 2003

Every day 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?

Traditionally, 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.

A 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.

Genetic 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.

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Who Sees A Genetic Counselor?

Any 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.

If 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

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What Happens at A Genetic Counseling Session?

To 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.

After 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.

Once 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 medical management.

The 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 follow-up.

What not to Expect From A Genetic Counseling Session

Genetic counseling sessions do not include:

• Any 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.
• Prescriptions. In most cases, genetic counselors are not medical doctors and do not write prescriptions.
• Specific medical recommendations. 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.
• Long-term 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 situation.

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How Can I Prepare for A Genetic Counseling Session?

The 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:

• Your relation to each family member, including whether family members are adopted or half-relatives
• Major health conditions that affect each family member such as cancer, diabetes, or heart disease
• The age of onset for each condition
• Age of death (where relevant)
• Cause of death
• Whether family members had a child with a blood relative

Try 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.

How to Find A Genetic Counselor

In 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.

More on Finding A Genetic Conselor

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How to Find Additional Support

More on Support Groups

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Related Resources

National Society of Genetic Counselors

The Genetic Alliance contains a database of support groups.

References

Bowles, 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.