Genetic Cancer Risk Assessment Helps Individuals and Families Understand Cancer Risks

Genetic counseling and testing for hereditary cancer risk assessment are offered on a referral basis to the community. The goals are to determine if a patient and/or family has an inherited genetic variant or mutation that increases risk for cancers and to counsel patients and families about recommendations to reduce cancer risk through preventive measures, early detection and other strategies.

Referrals for genetic counseling are based on many factors, including a patient’s personal history of cancer or other health history, a family history that is suspicious for genetic cancer syndromes or for a patient whose family members have tested positive for genetic cancer syndromes.

During the initial counseling session, thorough patient and family histories are completed and pertinent medical records are reviewed or requested. Then, if warranted, genetic testing is offered.

There are both benefits and risks when it comes to genetic testing. These risks are discussed in detail with the patient before testing.  Testing usually requires blood or saliva samples, and sometimes further testing may take place on a patient’s tumor tissue that has already been biopsied or surgically removed.

Testing results are reviewed during an appointment in which the patient receives an explanation of the results, including whether a pathogenic (cancer-causing) variant was identified. The discussion includes what the results mean, in terms of a patient’s risk for cancers as well as recommendations for cancer prevention strategies. The implications of test results for family members are also discussed, including whether genetic counseling and/or testing is advised for certain family members and any recommendations for cancer risk management. Results and recommendations are sent to the referring provider.

Follow-up visits are infrequent but can serve as a beneficial time to update patient and family history, to determine whether guideline prevention strategies have changed since the patient was last counseled and whether the patient’s current medical management reflects those changes and to notify patients about any new information from data and research regarding past results.