A 51-year-old female pursued genetic testing because she thought her mother was diagnosed with ovarian cancer at age 30. After the testing was ordered by the patient’s gynecologist, the patient realized her mother actually had cervical cancer, not ovarian. The test results revealed a pathogenic variant in the RET gene, which is associated with multiple endocrine neoplasia type 2A. This rare syndrome is known to increase the risk for medullary thyroid cancer and noncancerous tumors in the adrenal and parathyroid glands. This case is concerning because a healthy woman received extensive genetic testing to assess her risk for cancer based on an inaccurate understanding of her family’s cancer history. The genetic counselor worried that as a result of the broad genetic testing she received, this patient is now on a clinical path that may “lead to over-screening, stress, and possibly unnecessary prophylactic surgery.” Carefully consider a patient’s personal and family history before ordering a multi-gene panel.
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