Abstract C070: REAL variance in genomic testing by sex, age, race, ethnicity, and language: PROFILE database 7/2011 - 1/2022
Authors: McCleary Nadine Jackson , Haakenstad Ellana K. , Neville Bridget , Bertram Arrien A. , Loeser Wendy , Grider Joseph , Kruse Andea , Gentile Alissa , Kozyreva Olga , Sanz-Altamira Pedro , Lathan Christopher , Hassett Michael J. , Cerami Ethan , Kim Annette S. , Giannakis Marios , Lindsley R. Coleman , Lindeman Neal I. , Hahn William C. , Longtine Janina , Rollins Barrett , Garraway Levi , Johnson Bruce E. 
Published: January 2023

Abstract
Background: Lack of representation in genomic databases limits the generalizability of study findings, predictive models, and therapeutics. In cancer, the development of nearly 75% of cancer drugs have been informed by genomic data,1 yet there is persistent lack of diversity of genomic testing databases that inform clinical trials and lead to drug approval.2,3 The PROFILE project at Dana-Farber Cancer Institute (DFCI) is available to all adult cancer patients, offering free genomic testing for inclusion in their genomic database. Herein, we describe the enrollment ratios in PROFILE delineated by demographic group and cancer type. Methods: We conducted a cross-sectional analysis of the prevalence of PROFILE enrollment 7/8/2011 – 1/1/2022. Over this time period 177,788. Enrollment processes vary in each DFCI disease center, but all solid tumor patients are meant to be approached for enrollment around the time of their first visit. The electronic health record was queried to identify demographics, which are collected by registration staff at intake. Queried demographics included gender, age (&lt;70/≥70 years old), race, ethnicity, marital status, English proficiency, and primary language; cancer type was also queried. Prevalence was calculated from the number of patients enrolled each year and the total patients for that year. The association between PROFILE enrollment and demographic groups were determined with χ2 tests. Results: Across DFCI, 41% of adult patients are enrolled in PROFILE (73,730 enrolled). Enrollment was most common in the following groups (% of DFCI population, % of enrolled): female (57, 54), younger (78, 79), white (90, 93), non-Hispanic (97, 98), married (68, 70), English proficient (96, 98), hematologic malignancy (20, 18). Differences were statisticially significant for each category (p-value &lt;0.0001). Conclusion: This data suggests that, despite the universal availability of genomic testing for DFCI patients, disparities still result in underenrollment of certain groups, particularly by race and English proficiency. Ongoing projects at DFCI aim to increase enrollment with decision-making support through a patient navigator and informational video among key patient groups, including older adults, racial minorities, Latinx, and limited English proficient. 1. Marquart J, Chen EY, Prasad V. Estimation of the percentage of US patients with cancer who benefit from genome-driven oncology. JAMA oncology. 2018;4(8):1093-1098. 2. Guerrero S, López-Cortés A, Indacochea A, et al. Analysis of racial/ethnic representation in select basic and applied cancer research studies. Scientific reports. 2018;8(1):1-8. 3. Zavala VA, Bracci PM, Carethers JM, et al. Cancer health disparities in racial/ethnic minorities in the United States. British journal of cancer. 2021;124(2):315-332.
Citation Format: Nadine Jackson McCleary, Ellana K. Haakenstad, Bridget Neville, Arrien A. Bertram, Wendy Loeser, Joseph Grider, Andea Kruse, Alissa Gentile, Olga Kozyreva, Pedro Sanz-Altamira, Christopher Lathan, Michael J. Hassett, Ethan Cerami, Annette S. Kim, Marios Giannakis, R. Coleman Lindsley, Neal I. Lindeman, William C. Hahn, Janina Longtine, Barrett Rollins, Levi Garraway, Bruce E. Johnson. REAL variance in genomic testing by sex, age, race, ethnicity, and language: PROFILE database 7/2011 - 1/2022 [abstract]. In: Proceedings of the 15th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2022 Sep 16-19; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr C070.