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Genetic Counseling

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.

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.


Murphy EA and Chase GA: Principles of Genetic Counseling. Year Book Medical Publishers, 1975.

Applebaum EG and Firestein SK: A Genetic Counseling Casebook. MacMillan Inc, 1983.

Fuhrmann W and Vogel F: Genetic Counseling. Springer-Verlag, 1983.

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