by Katherine Hunt

Genetic counseling educates patients and their families about the risk of passing on an inherited predisposition for certain medical disorders, or the risk of having a certain disorder themselves. These hereditary disorders may include all types of cancer. Genetic counselors work as members of a patient’s healthcare team, providing information and support to families who have a relative with birth defects or a genetic condition, as well as to families who are at risk for inherited cancer syndromes.

A genetic counseling session includes taking a detailed family history. Patients can prepare for the session by learning as much about whom in their family was diagnosed with cancer, what kind of cancer they had and at what age. The most helpful way to prepare is by obtaining a copy of the pathology report from a relative’s cancer surgery. The genetic counselor will then construct a pedigree which tracks cancer and diseases through generations. Based on the information obtained from the family history, the genetic counselor will provide the patient with a risk assessment for carrying a hereditary cancer gene mutation which may increase their risk to someday have cancer. When a genetic counseling session determines that a patient is at high risk of developing a specific disease, the recommended next step involves genetic testing to see whether a hereditary gene actually exists. Approximately 10% of all cancers have a hereditary component and there have been several genes already discovered which cause hereditary cancer. There will be more genes discovered in the future so genetic testing is not comprehensive at this time.

Genetic testing is never required, but it’s a powerful source of information and knowledge. In a very real sense, genetic testing gives individuals and families the opportunity to look into their future and take preventative action.

Patients who undergo genetic testing and receive a positive result – meaning they do carry a hereditary predisposition for a certain disease – are in a powerful position to make healthy choices that can prolong or even save lives. In some cases, proactive steps involve regular increased breast cancer screening supplemented by healthy diet and exercise choices. And in some situations, patients will also be offered preventative surgical intervention to remove at-risk tissue before cancer ever had the chance to grow. Patients who test positive for a hereditary cancer gene mutation will not all get cancer. The risk is elevated in those patients, but not a certainty.

Many people who are considering genetic testing feel a sense of guilt and quit before they even walk through the door. It’s just a simple blood draw test, but the issues surrounding it are enormous. People worry, what if I’m passing this on to my children and it changes their lives? Would I rather not know? Individuals who are scheduled to meet with a genetic counselor can expect to be given time to speak to their genetic counselor about their worries, concerns, or feelings of guilt. Also, patients will be given time to make a decision regarding whether or not genetic testing is right for them.

In some situations, genetic test results will assist patients with already diagnosed cancer, to make a decision about how aggressive their surgery will be. If a patient is positive for a gene alteration, they may be offered more aggressive treatment, such as mastectomies, in the case of breast cancer. These decisions are made between the patient and their surgeon, but certainly having a positive test result does give patients more information prior to undergoing surgery.

It is also important to remember that a negative test result does not mean the patient will never get cancer. A negative result means the chance is not increased substantially, however everyone has a baseline risk for cancer and needs to follow the American Cancer Society’s screening guidelines in conjunction with the recommendations from their physician.

To find a genetic counselor in your hometown go to www.nsgc.org and search for a genetic counselor in your area.