Scenario: Cancer risk-assessment: preimplantation diagnosis

Kate’s mother, Ann, is undergoing treatment for breast cancer. As part of her work-up, Ann received genetic education and counseling, chose to undergo genetic testing, and was found to have a BRCA1 mutation. Kate was quite concerned about not only her mother when she heard the news, but also about her own risk of developing cancer so she also had genetic testing, which revealed that she did indeed have a BRCA1 mutation. This result was of most importance to Kate, as she and her husband were just starting the process of in-vitro fertilization, and they were concerned about whether or not she could pass the BRCA1 mutation onto a future child. When Kate accompanied her mother to the clinic for chemotherapy, she asked the oncology nurse about the possibility of a preimplantation genetic diagnosis (PGD), expressing interest in such testing if it was available. The nurse felt very uncomfortable discussing this subject with Kate because she recognized that she personally had limited knowledge about the availability of PGD and she also had ethical concerns about using PGD for cancer risk determination. She was aware of someone who could perhaps assist Kate in finding the answers to her questions and referred Kate to this resource.

Scenario: Cancer risk-assessment: newborn screening and/or direct to consumer genetic testing

Jeremy was recently diagnosed with lymphoma and was being seen in the surgical clinic for a pre-operative evaluation. He was to have a lymph node removed as part of his preparation for a vaccine treatment. Jeremy’s wife is pregnant and he shares with the surgical oncology nurse that they have already named their soon to be born daughter, Lauren. He asks the surgical oncology nurse about whether or not he knows if any tests that assess risk for cancer are included in newborn screening testing and whether or not the sample taken for this testing is stored for future use. Jeremy would like to have information about Lauren’s risk for cancer earlier in her life. He hopes that if she has this information, she will have the opportunity to make better life decisions (i.e., better diet, earlier cancer screening) so that she will not have to experience what he is now going through. He also states that if newborn screening doesn’t include what he’s looking for, perhaps he’ll check out the direct to consumer tests (DCT) he has been hearing about. The nurse responds that he is not up to date on newborn screening testing but is willing to get in touch with the couples’ OB/GYN physician to clarify what information is available and determine what happens to the child’s sample when testing is completed. Additionally, because he is also unfamiliar with DCT, he decides to look on the internet for information that might be of help to Jeremy. He has heard that there may be issues related to clinical utility and validity of genetic test results and wants to read more about DCT before he discusses this information with Jeremy.

Scenario: Genetic testing for identification of hereditary colon cancer diagnosis and treatment identification

Ken is being admitted to the hospital. During a routine colonoscopy he was found to have colon cancer and he is now being admitted for surgery. As part of the admission process, the in-patient oncology nurse asks about Ken’s family history. Ken mentions that his father, several of his aunts, and a few cousins have had cancer at early ages and that his father died at age 55 from colon cancer. The oncology nurse continues to collect family history details and suspects that Ken’s family may have a hereditary susceptibility to cancer. She remembers an announcement of a recent report on the Centers for Disease Control and Prevention (CDC) web site (http://www.cdc.gov/genomics/update/current.htm ) that provided recommendations for genetic testing in newly diagnosed individuals with colon cancer and shares that information with Ken’s doctor. The doctor then discusses with the nurse information about microsatellite instability (MSI) testing and immunohistochemical (IHC) testing of the tumor tissue upon surgical resection and also KRAS testing to assist in Ken’s treatment decisions. They discussed the implications of genetic evaluation for Ken and his family. If Ken is found to have a mutation that has contributed to his risk for colon cancer, his relatives might also benefit from having genetic testing. Relatives inheriting this mutation would benefit from colonoscopy screening at a younger age.

Scenario: Genetic testing for melanoma treatment selection

Stacy, an elderly Asian lady, was being being seen in a Cancer Center to receive follow-up information from the melanoma biomarker testing performed to faciliate treatment decisions. Stacy speaks fairly good English but sometimes interrupts the oncology research nurse for further clarification as she explains the type of biomarkers evaluated, the meaning of genetic changes, and how when certain genetic changes are present in the tumor (i.e., the oncogene BRAF²¹), there are medications that have been found to work best for those clients (i.e., PLX4032²¹). Stacy said she previously had a genetic test done at a local pharmacy for a medication she took when she had a blood clot, so she understands what the nurse is saying. But Stacy was concerned about whether the cost of this new targeted drug would be paid for by her insurance. The research nurse assesses Stacy’s understanding of the genetic test results and the treatment plan and assists her with investigating insurance coverage.