Abstract P039: Framework for genomic cancer risk assessment dissemination and implementation in Latin America: The GRACIAS (genetic risk assessment for cancer implementation and sustainment) study

Abstract

Abstract Introduction: Lack of public insurance coverage for genetic testing and a limited trained genomic cancer risk assessment (GCRA) workforce are barriers to cancer screening and prevention and to understanding the genetic epidemiology of cancer in low/middle income countries (LMIC) in Latin America. Methods: We implemented an intervention that included professional education for clinicians in Mexico, Peru and Colombia, support from a community of practice and a federated consortium of collaborators, a versatile research registry with a dual purpose (research and clinical care) centralized relational database and pedigree drawing program (web-accessible), and economical NGS multigene panel tests (MGPT). We report here the outcomes of GCRA for 4181 probands (3170 breast, 301 ovarian, 965 other cancer, and 262 unaffected). Results: With a mean age of 45.2 y.o. (39.9 y.o. at breast cancer dx for carriers), a pathogenic variant (PV) was detected in 605 (14.5%) of 2,710 probands (BRCA testing only for 1387, MGPT for 1323): BRCA1 (n=250); BRCA2 (129); CHEK2 (24); PALB2 (20); ATM (14); TP53 (14); PTEN (6); CDH1 (5); MMR genes (62); RAD51C (6); and BRIP1 (3). We have documented growing reach (proportion of those eligible that access GCRA), increasing cascade testing (family member(s) tested (n=541) for 192/470 [40%] probands with a PV), and with median 2.2 years follow up, 209 risk reduction surgeries were performed. Summary: Remarkably, despite systemic limitations, integration of a skilled multidisciplinary team with access to genetic assays and practice support tools, community, and hospital outreach increased GCRA reach, and the expansion of cascade testing and performance of risk-appropriate surgeries reflect maturing prevention programs. Sustainment of progress requires increased multilevel efforts and establishment of GCRA as a supported standard of care, so the opportunity for prevention is not missed for vulnerable and underserved high-risk patients and families. Citation Format: Jeffrey N. Weitzel, Julio Abugattas, Cynthia Villarreal-Garza, Adrian Daneri Navarro, Alicia Cock-Rada, Yenni Rodriguez, Pamela Mora-Alferez, Dione Aguilar, Azucena del Toro-Valero, Francisco Gutierrez-Delgado, Ana Ferrigno, Josef Herzog, Danielle Castillo, Gubidxa Gutierrez Seymour, Bita Nehoray, Kathleen R. Blazer, Maria E. Fernandez, Yanin Chavarri Guerra. Framework for genomic cancer risk assessment dissemination and implementation in Latin America: The GRACIAS (genetic risk assessment for cancer implementation and sustainment) study. [abstract]. In: Proceedings of the AACR Special Conference: Precision Prevention, Early Detection, and Interception of Cancer; 2022 Nov 17-19; Austin, TX. Philadelphia (PA): AACR; Can Prev Res 2023;16(1 Suppl): Abstract nr P039.