Genetic Counseling

What is genetic counseling?

Genetic counseling is a discussion with a specially trained health care provider, a genetic counselor, about the risk of genetic disorder or birth defect in a family or the occurrence of a genetic disorder in a person or family. The goal of the discussion is to help the person or family understand the inheritance of the genetic disorder, risks to family members, available testing and management. Additionally, the genetic counselor provides information about testing and management choices in the context of the family's view of the risks, family goals, ethical, and religious beliefs. ⁽¹⁾

What is a genetic counselor?

A genetic counselor is a specially trained health care professional with expertise in helping people understand how inherited disease and genetic testing could affect them and their families. Genetic counselors are most commonly board-certified specialists with master's degrees in human genetics. Genetic counselors can also be physicians who are clinical geneticists or genetic nurse clinicians. ⁽¹⁾

What happens during a genetic counseling session?

During the genetic counseling appointment, a genetic counselor will discuss any genetic concerns individuals or families may have for themselves, their children, or their pregnancies. The genetic counselor will ask specific questions about medical and family history and discuss concerns that are identified. If tests are available for inherited conditions of the family, the genetic counselor will review them in detail. Occasionally, another appointment is scheduled to discuss the results in depth. The common components of a genetic session include ⁽¹⁾:

• Discussion of the reason the patient was referred
• Review of the family, medical, and pregnancy histories
• Explanation of any risk factors identified
• Discussion of testing options available, including the risks, benefits, and limitations of each test
• Aid in decision-making about these tests
• Provision of any additional education or support needed, such as referral to a specialist or support organization.

Where is genetic counseling conducted?

Genetic counseling is usually conducted in person. There are different places that a genetic counselor may see you. These locations include the genetic counselor's office, your physician's office, or a specialty clinic.

In summary...

Genetic counseling is an in-depth discussion between a genetic counselor and an individual or family about inherited disease. Genetic information and testing analysis is personalized through a review of family and medical history. Any appropriate genetic testing needed is discussed in detail. Genetic counselors provide information and support through decision-making, testing, and result process.

To obtain more information about genetic counselors and learn how to schedule an appointment in your area, have your health care provider call 800-345-GENE.

Reference:⁽¹⁾; Baker DL, Schuette Jl, Uhlmann WR, eds. A Guide to Genetic Counseling. New York, NY: Wiley, John & Sons; 1998. [ISBN (paperback): 0471188670]