Do You Know How to Talk to Your Patients About At-Home Genetic Testing?

Do You Know How to Talk to Your Patients About At-Home Genetic Testing? 

A female patient in her early 30’s with newly diagnosed triple negative (ER, PR, HER2 negative) infiltrating ductal carcinoma who  has been recommended to undergo a germline multi-gene panel genetic test to rule out an inherited predisposition to breast and other cancers. Her family history is significant for maternal Ashkenazi Jewish heritage and paternal German/English heritage but no known paternal Jewish heritage. The family history of cancer on her mother’s family consists of a maternal grandmother diagnosed with unilateral breast cancer in her 70’s. On her father’s side there is a history of endometrial cancer in her father’s sister at age 45, prostate cancer in the father at age 56, and colon cancer in her paternal grandfather at age 58. The patient had previously undergone at home direct to consumer genetic testing because it also included the three Ashkenazi founder variants none of which were identified in her. See the pedigree above.

She shared with you that she was previously told that her father’s family history has no bearing on her risk of breast cancer. And there is no breast cancer in her father’s family. Was this advice correct?

You are arranging an appointment for this patient to be seen by a genetic counselor for multi-gene panel testing. The patient thought that the consumer genetic testing she had done tested her for the cancer susceptibility variants she was most at risk for, those associated with her maternal Ashkenazi Jewish heritage. Also, with the direct to consumer test she told you nothing else related to cancer was found. She asks you why she needs to have additional genetic testing?

The patient returns for her follow-up and you are putting her in the exam room. You ask if she saw the genetic counselor and had gotten genetic testing. The patient said yes, her result should be in her records. She shares that once the genetic counselor told her she had a genetic variant, much of what she said went over her head, it was not a result she expected. She tells you she has many questions for the doctor. The variant is in a gene associated with Lynch Syndrome and the internet says this is associated with colon cancer. She asks you if there could have been a sample mix-up because she has breast cancer and she does not know why she had a test for colon cancer genes. Select all right answers.