Question 1

A patient expresses concern that she is at risk for breast cancer. To best assess the risk for this patient, what is the best initial action?&#10;A) Ask if there is a family history of breast cancer.&#10;B) Gather and record a three-generation pedigree.&#10;C) Order a genetic test for the breast cancer gene.&#10;D) Recommend direct-to-consumer genetic testing.

Accepted Answer

Gathering and recording a three-generation pedigree is the best initial action to assess a patient's risk for breast cancer. This comprehensive family history can reveal patterns of cancer that might indicate an inherited cancer syndrome, guiding further risk assessment and management strategies.

Question 2

A patient asks about direct-to-consumer (DTC) genetic testing. What will the provider tell the patient?&#10;A) It is not useful for identifying genetic diseases.&#10;B) Much of the information does not predict disease risk.&#10;C) The results are shared with the patient's insurance company.&#10;D) The results must be interpreted by a provider.

Accepted Answer

Many DTC genetic tests provide information about genetic variants that have an unclear association with disease risk, limited clinical validity, or limited clinical utility. It is important for patients to understand that the results of these tests may not be useful in guiding medical management or preventing disease. The results are not automatically shared with the patient's insurance company, so the patient can choose whether or not to disclose them. However, it is still important for patients to discuss and interpret the results with a healthcare provider who has expertise in genetics.

Deck 7: Genetic Considerations in Primary Care