Why might someone have a genetic consultation?

Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include:

• A personal or family history of a genetic condition, birth defect, chromosomal disorder, or hereditary cancer.

• Two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died.

• A child with a known inherited disorder, a birth defect, mental retardation, or developmental delay.

• A woman who is pregnant or plans to become pregnant at or after age 35. (Some chromosomal disorders occur more frequently in children born to older women.)

• Abnormal test results that suggest a genetic or chromosomal condition.

• An increased risk of developing or passing on a particular genetic disorder on the basis of a person’s ethnic background.

• People related by blood (for example, cousins) who plan to have children together. (A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.)

A genetic consultation is also an important part of the decision-making process for genetic testing. A visit with a genetics professional may be helpful even if testing is not available for a specific condition, however.

For more information about the reasons for having a genetic consultation:

The National Center for Biotechnology Information (NCBI) provides a detailed list of common reasons for a genetic consultation.

An overview of indications for a genetics referral is available from The Genetic Alliance booklet “Understanding Genetics: A Guide for Patients and Professionals.”

Next: What happens during a genetic consultation?