While reclassifications are rare, the impact on clinical management is profound. In many cases, patients with downgraded pathogenic/likely pathogenic variants had years of unnecessary organ surveillance and underwent unneeded surgical intervention. In addition, cascade testing misidentified those at risk for developing cancers, thereby altering the management across generations. The frequency and types of alterations to clinical management highlight the need for timely variant reclassification.

Objective: To determine whether prior success in recruiting African Americans to an in-house cancer genetics registry could be duplicated when recruiting to a national registry requiring a significantly increased level of commitment. Additionally, to determine which recruitment sources and practices yielded the highest number of African American participants. Methods: A retrospective analysis of recruitment sources, practices, and results for recruitment to the Cancer Genetics Network (CGN; a national research registry), from 2000 to 2005 was conducted. These results were compared to previous experience in recruiting African Americans to the Family Cancer Registry (FCR; an in-house registry) during the period 1992–2005. Results: In the 1st year of recruitment to the CGN, African Americans accounted for 24% of those consenting to participate in the CGN registry from our center. This compares to an average annual rate of 27% for the FCR during the years 1998–2005, and a rate of less than 1% from 1992 to 1998. By 2005, African Americans accounted for 27% of CGN participants recruited through the University of Texas Southwestern Medical Center, one of eighteen participating institutions in the CGN. Hospital-based resources such as cancer treatment clinics and tumor registries yielded the highest percentage of African American participants (66.5%), and self-referral yielded the lowest (0%). Seventy-seven percent of African Americans were actively sought out and recruited from treatment clinics, whereas the vast majority of Caucasian participants were recruited passively during the course of genetic counseling sessions that were scheduled for reasons unrelated to participation in cancer research. There were no known instances of African Americans contacting CGN staff after reading printed recruitment materials or internet advertisements. Conclusions: The increased level of commitment required of CGN participants did not deter African Americans from participating in cancer genetics research. Recruitment strategies responsible for dramatically increasing recruitment rates to the FCR from 1998 to 2000 were equally effective when used for recruitment to the CGN. The most effective recruitment sources were high-yield venues such as cancer treatment clinics and tumor registries, and active recruitment methods yielded the highest number of African American participants. Advertising through internet announcements and printed recruitment materials did not appear to be effective.

Increased access to genetic counseling services is of prime importance in minority and underserved populations where genetic testing is currently underutilized. Our study tested a point of care screening tool to identify high-risk low-income patients for genetic counseling in a busy county hospital oncology clinic. Eligible breast patients treated at a "safety-net" hospital, were scored into 'high-risk' (> or = 6) or 'low-risk' (< 6) groups using a screening tool on personal and family history of cancer. Genetic counseling and testing were provided at the Vanderbilt Hereditary Cancer Program (VHCP) to all 'high-risk' and some 'low-risk' participants considered to need genetic counseling by their oncologist. Ninety-nine women with a history of breast cancer were enrolled onto the study over a period of 26 months. 53.5% (53/99) had a 'high-risk' score and ethnic predominance of African-American (60.4%). Of these, 67.9% (36/53) were counseled, and 91.6% (33/36) tested with a 9% (3/33) mutation positive rate. In the 'low-risk' group, 28.2% (13/46) still met current NCCN guidelines and were referred by their oncologist. 69.2% (9/13) were counseled and tested. The 'low-risk' group of predominantly Caucasian (41.3%) participants carried a 20% (2/10) mutation positive rate; which was later adjusted to 10% to exclude a mutation not conferring a strong breast cancer risk. The screening tool was well accepted by patients; and increased access to genetic counseling. There was a subset of breast cancer affected women under 45 with no reported family history that failed to be identified. Minor alterations to the tool would enhance concordance with current NCCN guidelines.

Introduction: The identification of breast and ovarian patients for genetic counseling and genetic testing is of paramount importance in order to offer tailored treatments to patients and their family members at high risk. Current guidelines for genetic counseling referrals require physicians to devote an inordinate amount of time to investigate patient family histories and risk factors. We devised a hereditary risk assessment strategy utilizing a previously described 10-item Family Cancer Risk Assessment (RISK) tool1 to accurately and quickly identify appropriate patients for genetic counseling referrals in an unobtrusive manner in a busy low-income oncology clinic. Methods: All women with a history of breast or ovarian cancer at the Robert Hardy Cancer Clinic at Nashville General Hospital at Meharry Medical College were approached for inclusion in this study. Exclusions included severe illness and previous genetic testing. Survey questions included family history of breast or ovarian cancer, ethnic background, and age at diagnosis, among others. Points were conferred as described previously1 and a score greater than or equal to six entailed an automatic referral to the Vanderbilt Hereditary Cancer Program (VHCP). Referred patients had an initial telephone appointment to construct a pedigree then followed by a face to face genetic counseling appointment and genetic testing if advised by the counselor. Sociodemographic data, cancer stage and cancer treatment data were collected using a RedCap database2 sponsored by Vanderbilt. The study was approved by the IRB of each institution. Results: 79 women were approached over a ten-month period. 73 (92%) of the women agreed to take the RISK survey. One patient had ovarian cancer and the others had a personal history of breast cancer. The average age of the women in the study was 56 (range 34-75). 48% of patients were African-American, 37% Caucasian, and 8% Hispanic. 83% of patients had Tennessee Medicaid as their sole insurance coverage. 79% of the 38 patients who completed questions regarding finances indicated their annual household income was less than $15,000. 14% of patients were diagnosed with triple negative breast cancer (TNBC) before the age of 60 and 35% were diagnosed with non-TNBC before age 50. 41 (56%) women scored six or greater on the RISK tool, and all of these women were referred to the VHCP. To date, 18 women have completed the genetics telephone interview with pedigree construction and 23 are awaiting telephone appointments. Of these 18 women, 17 (94%) met current NCCN guidelines3 for hereditary cancer screening based on pedigree analysis, age of diagnosis, and histology of the malignancy. 10 of the 18 patients were offered genetic testing, one patient declined the test after counseling. The other 8 women either failed (n=4) or are awaiting an appointment (n=4). No deleterious mutations were found in those tested and 4 variants of unknown significance (VUS) were found in 3 individual patients. Conclusions: A hereditary risk assessment strategy utilizing a 10-item RISK tool is an effective means for physicians practicing in a low-income, predominantly African-American clinic to easily identify appropriate patients with history of breast cancer for genetic counseling referral. Further, the extremely high participation rate of this patient population may indicate a high level of interest in genetic screening. Importantly, a number of patients did not follow through and attend the genetic counseling appointments; we are studying the reasons behind this lack of follow-through. Overall, this strategy could be easily implemented in other busy low-income clinics to screen patients for risk of hereditary cancer. 1 Joseph G. et al. 2012 Public Health Genomics. 2 Harris et al. 2009. J Biomed Inform. 3 National Comprehensive Cancer Network: Genetic/High-risk Breast_Ovarian (Version 2.2016). This study was funded by GreaterGood.org and by the Robert Wood Johnson Foundation. Citation Format: Eden Biltibo, Philip E. Lammers, Kimberley Thomas, Smita Rao, Renee Ashworth, Georgia L. Wiesner. Practical risk assessment: Identifying women at risk for hereditary cancer in a low-income cancer clinic. [abstract]. In: Proceedings of the Ninth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2016 Sep 25-28; Fort Lauderdale, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2017;26(2 Suppl):Abstract nr B84.

138 Background: A nine provider, community oncology clinic had limited local access to genetic counseling. Additionally, the practice had no process for identifying appropriate patients for genetic counseling or testing and no method to track referrals and test results. The practice partnered with a contracted genetic counselor and a study was completed to standardize screening and follow-up and to increase referrals and testing. Methods: Baseline data on genetic testing performed in 2018 was obtained from three major genetic testing labs. Based on the NCCN guidelines for genetic assessment, the practice created automated screening reports from the EMR, supplemented by manual chart review, to identify appropriate patients for genetic counseling. Front office, clinical and billing workflows were created. Patients were scheduled to see the counselor via in-person appointments or remotely via a HIPAA compliant telemedicine platform. The genetic counseling sessions included education and consent for testing followed by review and discussion of results. Consultations and genetic testing results were documented in the practice’s EMR. Results: Baseline data showed that the clinic tested 7 patients in 2018; 2 patients in the first quarter. During the pilot from Jan-Mar 2019, 34 patients were referred for genetic counseling; 30 consented to testing. This is a 329% increase over 2018; 1400% for the first quarter. Of the 30 patients tested during the pilot, 6 were positive for a pathogenic mutation. Conclusions: By contracting with a genetic counselor, and establishing procedures for screening, counseling, consenting, testing and follow-up, the practice was able to increase the number of appropriate genetic testing considerably. This process will be scaled to multiple sites of a community practice.