Abstract
Genetic and genomic testing is reaching more people than ever, yet disparities in access to and application of hereditary cancer screening remain. Further, with the advent of lower cost sequencing, the amount and complexity of information that is conveyed to patients, including secondary results, has increased. As part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, the Cancer Health Assessments Reaching Many (CHARM) study implemented a hereditary cancer risk assessment program for healthy adults aged 18-49. Participants were recruited in English and Spanish from two primary care settings (Kaiser Permanente Northwest and Denver Health). Participants underwent clinical exome sequencing and were randomized to receive their test results via usual care or a “literacy-focused” genetic counseling approach (n=845). Genetic counselors in the literacy- focused arm received in-depth training to adapt and apply evidence-based methods for effective communication with individuals of all literacy levels. We hypothesized that the literacy-focused approach would be non-inferior to usual care genetic counseling and generate higher satisfaction, engagement, and understanding of and adherence to recommended care. We also collected qualitative data to explore the experience of receiving exome sequencing results in this setting. Here, we present findings from qualitative interviews with participants conducted within a month (n=35) and again at 6 months (n=15) after receiving results, including: pathogenic cancer risk variants, medically actionable secondary findings and carrier results; variants of uncertain significant (VUS) in cancer genes; and negative results. The mean age of participants was 33. 72% spoke English and 75% were considered medically underserved by CHARM criteria. Participants in both trial arms expressed overall satisfaction; however, some participants in the literacy-focused arm indicated that specific elements of the approach, such as teach-back and plain language, helped facilitate their understanding, while some in the usual care arm said the information was overly technical. Younger participants in both arms, whose sequencing results will not be clinically actionable for many years, reported less worry and recalled fewer details about their results than older participants. While participants recognized the utility of positive results for family, at six months only some had spoken with them about testing, and few relatives had undergone cascade testing offered by CHARM. Genomic medicine requires clear communication of disease risk and prevention recommendations. Our qualitative findings suggest that the literacy-focused approach to genetic counseling can help facilitate patient understanding of cancer and other genomic risk. These results can guide effective disclosure of sequencing results and have implications for training clinical genetics professionals in the provision of equitable care for diverse patients.
Citation Format: Leslie Riddle, Laura M. Amendola, Marian J. Gilmore, Brad Rolf, Jamilyn Zepp, Claudia Guerra, Barbara Biesecker, Mikaella Caruncho, Katherine P. Anderson, Alan F. Rope, Tia L. Kauffman, Hannah Lewis, Stephanie A. Kraft, Devan M. Duenas, Benjamin Wilfond, Katrina A.B. Goddard, Galen Joseph. Reducing disparities in genomic medicine using a literacy-focused genetic counseling model for cancer risk assessment [abstract]. In: Proceedings of the AACR Virtual Conference: Thirteenth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2020 Oct 2-4. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(12 Suppl):Abstract nr PO-050.
