Background: According to the National Cancer Institute, hereditary pathogenic variants contribute to 5% to 10% of all cancers.1 For individuals with certain personal or family histories of cancer, genetic counseling and/or testing may be recommended to understand if the cancer is due to a hereditary condition caused by a pathogenic variant.2 If a person tests positive for a pathogenic variant, increased cancer screenings and preventive strategies may be discussed, enabling the individual to make informed decisions about managing cancer risk. Additional testing for family members may be offered as well. At the Prisma Health Cancer Institute, the Center for Cancer Prevention and Wellness developed the Genetics Management Clinic (GMC) to better manage and navigate individuals with hereditary cancer predisposition through cancer surveillance screening, risk management decisions, and risk-reducing strategies.
Objectives: Optimize cancer screening and surveillance methods for individuals who test positive for a pathogenic variant predisposing to increased cancer risk for risk management, prevention, and earlier detection of cancer.
Methods: The GMC was created in 2017 for individuals who are at an increased risk for developing cancer due to a pathogenic variant, determined after genetic counseling and testing. The genetic counselors make recommendations for genetic testing and management. Patients who test positive for hereditary cancer risk are offered a referral to GMC to follow up with a nurse practitioner (NP) and nurse navigator (NN). The NP and NN act as a risk management team to navigate patients through screening recommendations and risk-reducing options based on the pathogenic variant present. They also educate patients on modifiable risks, such as environmental or lifestyle factors, that contribute to cancer risk. The NP and NN use National Comprehensive Cancer Network guidelines and collaborate with the genetic counselors to make recommendations for patients and referrals to specialists as appropriate. Referrals may include labs, imaging, or tests/specialist evaluations.
Results: As of July 2021, the GMC has managed patients with 26 different hereditary cancer genes predisposing to a higher risk of cancer. About 20% of the patients seen were followed for a pathogenic variant in BRCA2, 15% for CHEK2, 12% for BRCA1, and 10% for PALB2, among 22 other genes. About 42% of the patients had already been affected by a cancer at their initial visit in the GMC. From the GMC, over 10% of patients have been referred for breast MRIs, 10% to dermatology, 10% to gastroenterology, 5% to surgeons, and almost 19% to further education services for modifiable lifestyle factors. The unique structure of the GMC paired with the coordination of the NP and NN, as well as communication with the genetic counselors, provides the navigation necessary to reduce cancer risk when possible and detect cancers earlier.
Conclusion: Through enhanced surveillance and risk management navigation, this model supports improved patient outcomes by educating patients on how to reduce risks of developing cancer and earlier detection of cancer. With the navigation support from the specialized management clinic, patients are better equipped to make informed decisions for risk management, follow screening guidelines, and access services more quickly.
- National Cancer Institute. Genetic Testing for Inherited Cancer Susceptibility Syndromes. www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet.
- National Cancer Institute. The Genetics of Cancer. www.cancer.gov/about-cancer/causes-prevention/genetics#identifying-genetic-changes- in-cancer.