Molly is a 48-year-old biology professor at a prestigious university. She was recently diagnosed with stage II invasive ductal carcinoma. She is referred to Anna, the breast nurse navigator, for breast cancer education and coordination of care.

During the conversation, Molly says that she will need to have genomic sequencing to see if her daughters are at risk for breast cancer and what cancer drugs would work best in her situation. Given Molly’s biology education expertise, Anna is surprised by Molly’s statement. Yet research shows that every person, regardless of education level, stands to benefit when healthcare information is explained using simple language (Office of Disease Prevention, 2015).

What Would You Do?

Despite feeling somewhat intimidated, Anna uses the same plain language and simple description she uses to clarify the difference between genetic testing and genomic sequencing to everyone. She tells Molly that genetic testing can be done on any cell in the body (usually blood or saliva) to look for bad genes (mutations) that were carried by either parent’s germ cell (egg or sperm). A mutation that is inherited is called a germline mutation. Genetic testing looks for germline mutations that could potentially be passed on to a person’s child (Balmain, Gray, & Ponder, 2003).

Anna further explains that mutations happening after fertilization are called somatic mutations. Somatic mutations can happen spontaneously or as a result of exposure to substances like tobacco smoke, radiation, or hazardous chemicals. Somatic mutations can be identified by looking at (sequencing) the cancer cells. This process is called genomic sequencing (Balmian et al., 2003).

Anna finishes her explanation with, “When genomic sequencing shows a gene mutation common to hereditary cancer syndromes, a genetic test, using blood or saliva, is done to see if the mutation was acquired at birth and not a mutation that happened later in a person’s life. If the gene mutation is found in a healthy blood or saliva cell, the risk of passing the defective gene to offspring is 50%. If the gene mutation is only in the cancer cells, the risk to a person’s children are the same as the general public” (Balmain et al., 2003). (See Table 1 for a list of hereditary cancer syndromes.) She then asks Molly to repeat back her understanding of the differences between genetic and genomic testing.

The universal precautions of health literacy can help oncology nurses remember that all people can benefit when medical information is presented in a way each patient can understand the first time they hear it. Bottom line: keep explanations simple by using plain language, defining medical terms, and checking for understanding.

Balmain, A., Gray, J., Ponder, B. (2003). The genetics and genomics of cancer. Nature Genetics, 33(Suppl.), 238–244. doi:10.1038/ng1107

National Cancer Institute. (2013). Genetic testing for hereditary cancer syndromes. Retrieved from https://www.cancer.gov/about-cancer/ causes-prevention/genetics/genetic-testing-fact-sheet

Office of Disease Prevention and Health Promotion. (n.d.). Quick guide to health literacy: Fact sheet. Retrieved from https://health.gov/ communication/literacy/quickguide/quickguide.pdf

Examples of Hereditary Cancer Syndromes

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