Cancer Genetics and Genetic Testing – It’s Not All in the Family - K. Foreman - 20220608

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07/04/23

Genetic sequencing technologies are increasingly applied in the oncology setting for a variety of purposes. Genetic testing of tumor specimens can help clarify a diagnosis and inform targeted therapies. Circulating tumor DNA can be detected in blood samples and can also guide therapy as well as monitoring for response to treatment or recurrence. Five to ten percent of cancers are the result of an underlying hereditary syndrome. Dedicated germline (i.e. hereditary) genetic tests are required to identify these syndromes, but other genetic tests may provide clues about the chance of a hereditary syndrome. Inappropriate use of other types of genetic testing to assess germline risk can result in harm to patients. We propose to provide education about various oncology genetic tests and their uses, with an emphasis on what those tests may (or may not) tell us about underlying hereditary risk. We will illustrate this with case examples, including a recent case referred to us who underwent prophylactic surgeries after being told she had BRCA1/2 associated hereditary breast and ovarian cancer syndrome following incorrect ordering of a test that did not address germline risk and misinterpretation of the results.