Date of Award

Spring 2022

Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Whitney Dobek


Since 1998, the National Comprehensive Cancer Network (NCCN) guidelines have specified clinical indications for genetic testing for breast cancer susceptibility genes, but retrospective studies have shown that, despite meeting the NCCN criteria, patients are not always advised of the option of genetic testing. Further compounding this issue, studies have shown that cancer family history intake and documented family history can be incomplete even when taken by oncology providers. At this study site and other cancer centers in the country, patients with a new diagnosis of breast cancer are referred for genetic counseling by their cancer care team if they are deemed to meet NCCN criteria for genetic testing. For this study, the authors sought to explore if a family history, as gathered by a genetic counselor, will find additional patients who meet these criteria. Patients with a new diagnosis of breast cancer who were not referred for genetic counseling and testing were contacted and randomized to have their personal and family history collected via telephone or online questionnaire. Of the 64 patients contacted, 40 provided complete information about their personal and family history. The response rate was higher for the patients offered a pedigree assessment via phone (65.6%, n=21) compared to those offered the questionnaire (59.4%, n=19). In total, 11 (27.5%) individuals were found to meet NCCN criteria after the additional assessment—seven were detected by pedigree and four by online questionnaire. Of note, three of these patients were referred by their oncologist after consultation but prior to notification from the study team, meaning they were ultimately identified by the current system. Furthermore, two of the 11 patients did not meet criteria after first contact with the genetic counseling team but met criteria after new information was obtained from discussions with relatives. The most common cancers in a family history that were overlooked by previous provider intake were pancreatic cancer (n=4) and prostate cancer (n=3). Since these two cancer types have been added to guidelines more recently, this indicates a need for better provider education following guideline updates. Adding a family history assessment tool to assist with identification of these patients is another avenue for exploration. However, when considering method of assessing patients, it is important to consider patients likelihood to respond. Further studies can build upon the data from this study to assess success of interventions and impact on patient care.


© 2022, Corinne Marie Locke