Genetic Counseling
Genetic counseling is a discussion with a health care provider 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 doctor 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
are women who have had a genetic screening test for birth defects
are pregnant women who have been exposed to harmful things in the environment
How is the procedure performed?
A healthcare provider 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. Information on diagnosis is important. Sometimes, the family must 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 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 provider 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. This will be compared to risk is 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.
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