Abstract P3-08-10: Highly accurate hereditary risk assessment tool for low-income breast cancer patients
Authors: Wiesner GL , Rao SK , Ashworth DR , Thomas KA , Lammers PE 
Published: March 2017

Introduction: Genetic testing is known to improve outcomes in high-risk women by finding cancers in the earliest most treatable stage or through prophylactic measures. However, these life-saving services may not be available to low-income women due to lack of insurance or access to genetic providers. To address this need, a collaboration between the Hereditary Cancer Clinic at Vanderbilt-Ingram Cancer Center (VICC) and the Robert E. Hardy Cancer Clinic at Nashville General Hospital at Meharry Medical College (MMC) was established in 2015 to systematically screen all MMC breast cancer patients for hereditary traits and refer them for genetic counseling (1). We hypothesized that high risk women could be accurately identified using this clinic based screening tool.

Methods: MMC clinic staff screened breast cancer patients using a 10-item Family Cancer Risk Assessment tool (RISK) that has been designed for use in a busy clinic environment (2). We tested the accuracy of the RISK by comparing the results to a 3-generation pedigree and the current NCCN guidelines for referral of patients to genetic services (3). The project was approved by the IRBs at each institution and study data were collected and managed using RedCap electronic data capture tools hosted at Vanderbilt University (4). Summary statistics and Chi-square for significance were performed.

Results: 73 breast cancer patients completed the RISK during their clinic visits and 41 (56%) had a high-risk score of 6 or more. All 41 patients have been referred for genetic counseling, with 18 (44%) women having completed a pedigree interview over the phone. 11 of these 18 patients (61%) were African-American; 5 (27.7%) were Caucasian; and one each (5% each) were of Asian and Hispanic ancestry. 9/18 were diagnosed &lt; 50 years (Mean entire group =50 yrs; range 36 -57). 5/18 (27.7%) had triple negative markers on pathology and 2/18 were ER+/PR+/Her2+, and the remainder had ER+/PR+/HER2- cancers. Among the 18 patients with full pedigrees, 17 (95%) patients met current NCCN guidelines based on pedigree analysis. The one outlier had a revised RISK score based on updated information obtained during the pedigree interview. Genetic testing was offered to 10 patients seen in VICC clinic and 1 declined testing. The other 8 patients either failed (n=4) or are awaiting an appointment (n=4). No deleterious mutations were seen in those tested. 4 VUSs (BRCA2, NBN, SMARCA4, and RAD51D) were found in 3 of the 9 tested patients. No significant differences were found in race, age or type of tumor.

Conclusion: Point of care risk assessment using the Family Cancer Risk Assessment screening tool is highly accurate for identifying patients at high genetic risk for hereditary breast cancer. While the tool was completed using pen and paper, it could easily be computerized for ease of administration and calculation of risk scores. This approach benefits the busy oncologist in identifying and referring appropriate patients for genetic testing.

1. Funds awarded by GreaterGood.org. 2. Joseph G. et al. 2012 Public Health Genomics. 3. National Comprehensive Cancer Network: Genetic/High-risk Breast_Ovarian (Version 2.2016). 4. Harris et al. 2009. J Biomed Inform.

Citation Format: Wiesner GL, Rao SK, Ashworth DR, Thomas KA, Lammers PE. Highly accurate hereditary risk assessment tool for low-income breast cancer patients [abstract]. In: Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2017;77(4 Suppl):Abstract nr P3-08-10.