What is Genetic Counseling?

Genetic counseling is a health service to guide and support patients who are seeking information regarding their personal or family history, or risk for inherited disorders. A genetic counseling appointment typically involves collecting detailed personal and family medical histories, and providing information related to genetic conditions and testing options. It may also include discussion and interpretation of previous genetic test results, if available. Genetic counseling is performed by an individual trained in medical genetics, such as a genetic counselor. Genetic counselors are certified healthcare professionals with specialized training in genetics and counseling. Patients may be referred to genetic counseling by another care provider, such as their reproductive endocrinologist, or may choose to seek out this service themselves.

Genetic counselors work with patients in a variety of clinical specialties and settings. Within the fertility setting, patients may meet with a clinical genetic counselor associated with their physician’s office to review family history and any appropriate testing they may wish to pursue during their fertility evaluation and treatment. They may also speak with a genetic counselor associated with a testing laboratory regarding a specific genetic test or result. In many settings, these genetic counselors will work together to provide optimal patient care.

Common indications for a genetic counseling consultation in the fertility setting include:

1. Review of personal and family history prior to infertility treatment
2. Review of carrier testing options
3. Known carrier status for a recessive or X-linked disorder (see FAQs on carrier screening)
4. Known or suspected chromosomal condition, such as a translocation or inversion (see FAQs on karyotype test)
5. Review of available testing options for embryos during IVF (see FAQs on PGT tests)
6. Known family history of a genetic disorder
7. Genetic risk assessment of a particular egg or sperm donor

Typically, the session will start with an introduction to assess what the patient or couple hopes to learn or discuss during the appointment. The genetics professional may also share an agenda to outline what topics they intend to cover in the session.

The genetic counselor will likely obtain a detailed, multiple generation medical history on the patient and partner, which can include a discussion of their immediate relatives’ medical histories. This allows for creation of a more complete picture of the family medical history, which helps determine any risk factors or recommended genetic tests for a future pregnancy.

Information related to the patient’s original reason for referral is reviewed, plus any relevant concerns that have arisen during the appointment. This may include a discussion of specific genetic risks to the patient and future embryos and/or pregnancies as well as relevant genetic testing options. Possible results of genetic tests, including what they might mean for the patient and the patient’s family, are also discussed. If genetic testing is offered to the patient, the genetic counselor will help guide them through the decision-making process and the associated emotional implications. Finally, if the patient opts to pursue genetic testing, a plan for follow-up and disclosure of results is also discussed.

It is important to note that genetic counseling does not always mean pursuing genetic testing. Although many genetic tests are available, not all are useful or necessary for every individual. Genetic counselors help identify which tests, if any, may be most helpful for each particular couple. One of the main goals of genetic counseling is to provide information about the benefits and limitations of these tests to help couples make informed decisions.

Fertility providers may have a genetic counselor on staff or affiliated with their practice allowing referral of patients when needed. If this is not the case, there are search options available through the National Society of Genetic Counselors (NSGC) at https://www.aboutgeneticcounselors.org/.