Abstract 2328: Polyethnic-1000: Advancing cancer genomics by studying ethnically diverse, underserved patient populations in New York

Abstract

Abstract Advances in sequencing technologies have revolutionized our approaches in medicine. However, our current knowledge about the molecular attributes of cancer has primarily been derived from patients of European descent. The overall aims of Polyethnic-1000 are to study the variability of somatic profiles and the effects of genetic ancestry on cancer biology and to bring genomic innovation to under-represented ethnic groups in the diverse patient population of New York City.A dynamic research platform is being created, involving the New York Genome Center, academic centers and partnering hospitals in the New York City region. In an initial retrospective study, the infrastructure, sample workflow, analysis and data sharing policies within the consortium have been developed. Whole-exome and RNA sequencing has been performed on 146 samples from self-identified non-white cancer patients treated at 14 different centers. Genetic ancestry estimation was performed at the super-population and population level using the 1000Genomes references. Data from over 24 tumor types were shared with our collaborators and the somatic variants were made available through our local installation of cBioPortal. Using the knowledge gained during the first stage, we are designing a prospective study to demonstrate our capacity to obtain samples from patients of varied ethnicities and to allow the formation of cohorts of interest for particular cancer types and particular ethnicities, with uniform consent for germline and somatic sequencing and return of results for potentially actionable mutations.By establishing a collaborative network, Polyethnic-1000 will deepen our understanding of the contributions that ethnicities make to the incidence and biology of cancers, potentially improving outcomes for patients who currently lack access to the most recent advances in medical science. Citation Format: Nicolas Robine, Fieke Froeling, Benjamin Hubert, Timothy Chu, Ashlea Chandler, Michael C. Zody, Dayna M. Oschwald, Harold E. Varmus, Charles Sawyers, David Tuveson. Polyethnic-1000: Advancing cancer genomics by studying ethnically diverse, underserved patient populations in New York [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 2328.