Genetic Counseling

Definition of Genetic Counseling

Genetic counseling is a discussion with a health care professional or genetics counselor about genetic diseases in a family. Genetic diseases are conditions that can be passed on from a parent to offspring. Examples of common genetic disorders are:

• Turner syndrome
• Down syndrome
• Klinefelter syndrome
• Tourette syndrome
• celiac disease
• Wilson disease
• Huntington disease
• Duchenne muscular dystrophy
• Tay-Sachs disease

People who seek genetic counseling usually have a personal or family history of genetic disease. In some cases, several relatives may meet with the healthcare professional or counselor.

Who is a candidate for the procedure?

Candidates for genetic counseling:

• have a genetic disease
• have an affected relative
• are women over 35 years of age who are considering becoming pregnant
• are women who have had a genetic screening test for birth defects
• are pregnant women who may have been exposed to harmful substances or effects in the environment

How is the procedure performed?

A healthcare professional or counselor needs information to be able to perform genetic counseling. First, a family history must be supplied. The family history includes information about relatives who have a genetic disease. It also covers birth defects and miscarriage in the family. If a woman is pregnant, it is important to know if she has been exposed to anything harmful at home or work.

It is also important to have any available diagnostic information on family members with a potentially inheritable condition. If possible, the family should provide medical records. It is key to know the results of any genetic screening tests that have been already been done. After gathering these facts, the counselor can determine the person's risk of developing a genetic disease. He or she can also gauge the chances of passing the disease on to children.

Often, genetic counseling can be done immediately after the information is gathered. In other cases, further information about relatives is needed. This may require a second visit to the counselor. Sometimes, it is necessary to wait until medical records can be reviewed. A healthcare professional or counselor also may need time to determine the risk.

Genetic counseling starts with a talk about the diagnosis. Next, the outcome for people with the disease is discussed. The prospects for everyone in the family are covered. Then, the talk moves on to risk factors. The counselor should first discuss the size of the risk for the affected individual as compared to the risk for anyone in the population. This helps to put the risk into perspective. The choices a person has for dealing with the risk are discussed. These may include genetic testing, treatment, or family planning.

What happens right after the procedure?

After counseling people must make decisions about how to deal with the disease. They may have to decide about further testing. They may also need to think about family planning.

What happens later at home?

After receiving genetic counseling, the person will have information to take home and review. This will help with decisions that the person needs to make. Also, people may need help in making family planning decisions. They also may need names of experts to contact regarding further questions they may have about genetic disease.

What are the potential complications after the procedure?

Genetic counseling can have a major impact on a person's life. People can receive both good and bad news. The information they get may change their plans to bear children. They may be told that further tests are needed, some of which may involve a risk for miscarriage.