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.