Kate McReynolds is a Genetic Nurse Practitioner at Vanderbilt University Medical Center in Nashville, Tennessee. She will be speaking at our upcoming 2nd Annual Faces and Cases in Women’s Health Conference.
What is genetic testing and why is it so important?
Genetic testing for cancer susceptibility is a vital tool that can identify women who are at significantly increased risk for cancer. Nurse practitioners play an important role in identifying women who would benefit from genetic testing, referring them to providers with expertise in cancer genetics for testing, and ordering enhanced screening if a mutation is identified. About 5 to 10 percent of most cancers are hereditary, and patients who have a mutation in a gene associated with a hereditary cancer syndrome have cancer risks that are often much higher than in the general population. For many of these syndromes, we can now test for mutations in specific genes.
Genetic test results can guide clinical management including decisions about risk reducing measures such as risk reducing surgery, and screening to find cancer as early as possible. Genetic testing results can also help a woman’s family members better understand their own cancer risks and plan accordingly.
Should everyone get genetic testing?
Because only a small percentage of cancers are hereditary, not all women are good candidates for genetic testing. These tests can be expensive and are generally recommended only for women who have personal and/or family histories with certain red flags that are concerning for a hereditary cancer syndrome.
Examples of features concerning for a hereditary cancer syndrome include cancer diagnosed before age 50, an individual with multiple primary tumors, cancer of the same type in more than one person on the same side of the family and in different generations, cancers that may be related in a syndrome, rare cancers (e.g. male breast cancer) and certain ethnicities.
What should NPs know about genetic testing and genetic mutations?
When I talk to Nurse Practitioners, my goal is to help them understand the significance of taking a good cancer family history and to familiarize them with the red flags in order for them to make appropriate referrals for genetic counseling and testing. It is important that they understand the cancer risks associated with some of the more common hereditary cancer syndromes and where to find the relevant clinical management guidelines. In addition to playing a key role in enhanced screening, it is also important that that NPs understand the psychosocial impact of finding out they, or a loved one, has a hereditary cancer syndrome.