Genetic Counseling

Genetic Counseling

Genetic counseling is a process where a trained genetic counselor helps a person or family at risk for a disease with a genetic cause, such as cancer, understand the medical facts and available screening, prevention, and treatment options. The genetic counselor asks about your medical history and your family's medical history and provides you with information about your cancer risk based on this information. In addition, the genetics counselor can review your options for genetic testing and cancer screening.

The role of the genetic counselor

A genetic counselor is a health professional with specialized training in medical genetics and counseling. Most genetic counselors have a Master's degree in genetic counseling, although others have degrees in related fields, such as nursing or social work. Genetic counselors are certified through the American Board of Genetic Counseling. Like other health professionals, genetic counselors must participate in continuing education to maintain their certification.

Genetic counselors are trained to evaluate the likelihood of a hereditary cancer risk in your family and give you and your family information about genetic testing and other cancer screening options. They will help you come to a decision about genetic testing and serve as a resource for you and your family in the future. Genetic counselors may advise you about the following:

  • Diagnosis and treatment options, including the review of available options to identify early-stage cancer or reduce the risk of cancer through surveillance, screening, prevention, and treatment.
  • The limitations of the testing procedure, test accuracy, available screening, and preventive measures.
  • The privacy and confidentiality of your genetic information.
  • The emotional, psychological, and social consequences of knowing the test results.

Preparing for a visit with the genetic counselor

The more information you have about the cancer history in your family, the more you will benefit from your genetic counseling visit. Information that is helpful and may be requested by the counseling center includes:

  • Your medical records—specifically doctors' notes and pathology reports from any biopsies, surgery, or routine screening examinations (such as a colonoscopy).
  • A list of extended family members that includes their current age or age at the time of death and the cause of death. This list should include parents, siblings, children, aunts, uncles, nieces, nephews, grandparents, and cousins.
  • Information regarding the specific type(s) of cancer in family members and the age at which family members were diagnosed with cancer. Pathology reports are often helpful.

Understanding what happens during the appointment

Consider taking a companion with you to your appointment. This may or may not be a family member, depending on your preference. A large amount of information will be covered, and it is always a good idea to have another person there to hear the information and think of questions. If you choose to bring a family member, he/she may also be able to provide additional information about your family history. You can expect the following topics to be covered:

  • Your personal medical history and cancer screening history.
  • Your family history of cancer. (The counselor will draw your pedigree [family tree] including at least three generations, and document who has had cancer, what type of cancer they had, and their age at diagnosis).
  • The possibility of a hereditary cancer risk in your family. (Depending on your family history, your counselor may be able to use computerized risk assessment tools to help estimate your risk of having a hereditary predisposition to cancer).
  • The benefits and limitations of genetic testing for your family.
  • A strategy for genetic testing that best meets your needs.
  • Current laws regarding the privacy of genetic information.

After Your Visit

Your genetic counselor will write a summary of your visit. Typically, a copy of this summary will go to you and the doctor who referred you to the genetic counselor. Your genetic counselor may provide you with additional written information relevant to your family history. In some cases, you or other family members may qualify for research or screening studies, and your genetic counselor can provide you with that information and help make the necessary arrangements.

If you decide to pursue genetic testing, your genetic counselor will work with the testing laboratory to determine if test costs are covered by your insurance. Your counselor can help coordinate testing and review your test results with you when they are available. Your counselor will continue to be a resource for you and your family after your visit. It is important to call your counselor if you have any questions or if there are changes to the cancer history in your family.

F. Martin

"Today, we continue to put all our trust in Dr. Carabulea, a doctor on the cutting edge of his medical field combined with the gentle demeanor of a family physician that is hard to find these days."