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?