Genetic Counseling

Genetic counselors are health professionals who work as members of a health care team, providing information and support to individuals who may be considering genetic screening or testing, or may be at an increased risk for certain genetic conditions based on personal or family health histories.

For example, a prenatal genetic counselor can help any woman going through pregnancy understand her testing options. A brief discussion with a genetic counselor can give people the knowledge they need to make the best testing and screening choices for themselves. Genetic counselors also provide support to families throughout this process.

What to expect at a Genetic Counseling Visit

Introduction. The session begins with a conversation about the reason for your visit, including the type of information you hope to learn from your visit and any concerns you may have.
Family History. While the family history may not be the reason for the visit, all decisions about genetic screening or genetic testing should be made in the context of your full family history.
Information and Assessment. The genetic counselor provides information specific to your situation, such as the chance to have a child with a genetic condition based on your age during pregnancy, or the risk of a possible inherited cancer condition based on a family history of cancer. In any situation, options for testing and screening are reviewed. Genetic counselors will also explain what the potential results might mean and how the health care team works with you to make management recommendations.
Decision-Making. The genetic counselor will help you understand the options for screening and diagnostic testing and consider whether you would like to pursue them.
Support. Genetic counselors can address the various feelings that accompany these conversations and decision-making, as individuals may feel overwhelmed by the amount of information they are receiving.
Follow-up. Genetic counselors may help facilitate the genetic testing process and have a role in reporting results when available. They are also a reliable source for additional information or resources as needed.

How to Prepare for a Genetic Counseling Appointment

• Discuss with your partner/family what type of information you are hoping to get from the appointment.
• Write down all of your questions about screening and testing options.
• Obtain details about your family history. For example, a prenatal genetic counselor will ask you and your partner if either of you have family members with the following:
  • Three or more miscarriages
  • Surgery as a newborn for a birth defect
  • Intellectual disabilities
  • Cancer diagnosed younger than age 50
  • A hereditary condition
• If possible, bring your partner or other support person (family member or friend) with you to the genetic counseling appointment.

Common Reasons for Being Referred to a Genetic Counselor

• Before or during pregnancy
  • Discussion of genetic screening options
  • Maternal age
  • Screening indicating an increased chance for a certain condition
  • Family history of a birth defect or genetic condition
  • Concerns on ultrasound in current pregnancy
• Cancer
  • Family history of inherited cancer condition
    • Personal or family history of cancer:
      • Diagnosed younger than age 50
      • In multiple generations
      • Rare cancer types