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.

PURPOSE: Racial and ethnic disparities have included a lack of access to both genetic testing and research, resulting in poor understanding of the genomic architecture in under-represented populations. The South Texas population is primarily of Hispanic background and has been largely devoid of genetic services. We extended access to this underserved population and uncovered genetic variants previously not observed, emphasizing the need to continually improve both genomic databases and clarification of variant significance to provide meaningful patient counseling. METHODS: This study consisted of a retrospective cohort review of patients seen through a cancer genetics education and service program across 24 counties in South Texas. In total, 1,595 individuals were identified as appropriate for cancer genetic counseling and 1,377 completed genetic testing. RESULTS: Eighty percent of those receiving genetic counseling self-identified as Hispanic, 16% as non-Hispanic White (NHW), 3% as African American, and 1% as other race/ethnicity. Of reported variants, 18.8% were pathogenic and 13.7% were reported as a variant of uncertain significance (VUS). VUS was reported in 17.2% of the Hispanic individuals compared with 9% NHW ( P = .005). CONCLUSION: Individuals of Hispanic ethnicity were significantly more likely to harbor a VUS compared with NHW. The extended reach into our regional communities revealed a gap in the ability to accurately interpret genomic variation with implications for advising patients on screening, prevention, and management strategies. A higher percentage of VUS also emphasizes the challenge of continued follow-up amid existing barriers that led to disparities in access. As understanding of the variants develops, hopefully gaps in knowledge of the genomic landscape will be lessened with increased clarity to provide accurate cancer risk assessment and recommendations for implementing prevention initiatives.

Hereditary susceptibility studies for breast cancer are key to enhancing early detection and exercising prevention strategies in order to reduce breast cancer mortality. Germline pathogenic variants that have shown susceptibility to breast and ovarian cancer are detected in gene panels including ATM, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, POLE, RAD50, RAD51C, RAD51D, RECQL, STK11, and TP53. Historically, minority populations have been overlooked both in reach and access to genetic testing, resulting in a lack of knowledge of the genomic landscape and creating a barrier to the application of genetics in clinical medicine. This is the case with the populations of South Texas including the Texas-Mexico border region. According to the US Census Bureau, the South Texas region population is comprised of 69% Hispanics while the Texas-Mexico border region population is comprised of over 90% Hispanics. Previous studies have shown multiple pathogenic variants and also variants of unknown significance (VUS) specific to ethnic populations and regions, but there is little information regarding the Mexican American population of South Texas.Our GRACIAS Texas Program has provided services to individuals and professionals across 26 counties in the South Texas area by specifically providing cancer genetic counseling and testing to individuals and families at highest risk. Recruitment was accomplished through comprehensive outreach to communities through health fairs, small group education sessions, mammography centers, hospitals, FQHCs, and direct interactions with medical providers. Although our program focused on recognizing both breast and colon cancer, and also reached those with rare cancer predisposition syndromes, the concern for breast cancer risk was most commonly addressed, accounting for the majority of cases. A total of 1595 individuals were identified as appropriate for cancer genetic counseling, and of these, 1377 individuals completed genetic testing. Of all individuals who received cancer genetic counseling, 1269 (79.5%) were Hispanic, 16% non-Hispanic White, 3% African American, and 1% other race/ethnicity. The group of individuals receiving testing consisted of 86% females and 14% males. Of those tested, 259 (18.8%) individuals were found to have pathogenic genetic variant and 187 (13.7%) individuals were found to have a VUS. Notedly, the VUS were nearly twice as common in the Hispanic population (14%) as compared to non-Hispanic White population (7.2%). This underscores the disparities of knowledge in genomic variation in Hispanic and non-Hispanic population. We also note that although the percentage of African American patients seen was small, 12 of 45 (26.6%) were found to have a VUS which further reflects the underrepresentation of African Americans in genomic landscape studies.These variants are important because they present a dilemma when advising patients as to need for cancer screening. However, recognition and further exploration of these VUS provide a future pathway to functional assessment and thus eventual knowledge to guide patient care. We continue to monitor for any changes to the status of these VUS. Although many variants are ultimately classified as benign variations, we have seen cases in which a VUS is reclassified into a likely pathogenic or definitely pathogenic variation having significant implications for screening, prevention, and management for these individuals and their families emphasizing further the need to continue to follow individuals tested. Our observations will help define the gene-specific risks of individuals and families in our underserved communities and will support the goal of closing gaps in genomic disparities.Supported by CPRIT grants PP120089 and PP160011 and NIH P30 CA54174. Citation Format: Stephanie Soewito, Rachel Wyatt, Emily Berenson, Natalie Poullard, Shawn Gessay, Lindsey Mette, Kristin Shelby, Elise Alvarez, Clarissa Aviles, Anna Maria Pulido Saldivar, Pamela Otto, Ismail Jatoi, Virginia Kaklamani, Gail E Tomlinson. Increased rates of genetic variants of unknown significance in Latino and African American populations of south Texas [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P2-09-06.