Resources What is Genetic Counseling?

By Amy Adams, MS

Reviewed by Kari Danziger, MS, CGC; Jennifer Graham, MS, CGC; Larry Prensky, MS, CGC, CCGC Last Updated April 11, 2011

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.

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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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.

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What Is Genetic Counseling?

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