Reasons for a Genetic Consultation

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, intellectual disability, 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 person received results from direct-to-consumer genetic testing and they want to discuss the implications of the results.

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

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