Abstract PR02: Using web-based tools to assess familial cancer risk in diverse populations
Authors: Feigelson Heather Spencer , Mittendorf Kathleen F. , Kauffman Tia L. , Anderson Katherine , Okuyama Sonia , Wilfond Benjamin , Jarvik Gail P. , Amendola Laura M. , McMullen Carmit , Lynch Fances , Eubanks Donna , Shuster Elizabeth , Allen Jake , Kraft Stephanie A. , Joseph Galen , Lee Sandra Soo-Jin , Goddard Katrina A.B. 
Published: June 2022

Introduction: The Cancer Health Risk Assessments Reaching Many (CHARM) study (NCT03426878) aims to increase access to genetic testing for hereditary cancer in low-income, low-literacy, and minority populations (hereafter referred to as “underserved”). To implement the study, we have capitalized on the availability of electronic medical record (EMR) systems, developed innovative web-based tools, and designed a novel telemedicine protocol for return of clinical genetic testing results.

Methods: Patients aged 18-49 years are recruited from two centers: Kaiser Permanente Northwest (KPNW; an integrated health care system in Portland, OR) and Denver Health (DH; a federally qualified health care center in Denver, CO). Specific protocols were developed to identify potentially eligible patients from the EMR and invite them to complete a web-based family history assessment. KPNW patients were recruited using email, text messaging, and in-clinic booths; DH patients were recruited via mail, phone, and provider referral. Validated risk assessment tools for Lynch syndrome (PREMM5) and heredity breast and ovarian cancer syndrome (B-RST) were adapted for our low-literacy and bilingual (English and Spanish) target population. Genetic testing is offered to patients with greater than average risk for hereditary cancer, or where risk cannot be assessed because of unknown family history or limited family structure. Eligible patients review a multipart, multimedia online consent. Those who consent to participate provide a saliva sample for clinical exome sequencing. Genetic counselors return results by telephone using traditional (usual care active comparator) or modified, communication-focused (experimental) counseling for pathogenic variants, likely pathogenic variants, and select variants of uncertain significance in 39 genes related to cancer risk, pathogenic variants in 79 genes related to medically actionable secondary findings, and 14 genes related to carrier status.

Results: In the first four months of recruitment, 258 patients have completed the risk assessment tool (48% are underserved). Of those, 180 (70%) had greater than average risk of hereditary cancer (or limited family history information) and were invited to participate (53% were underserved); 86% of underserved patients and 78% of patients who do not meet criteria for the underserved category have consented. The vast majority of participants complete enrollment without assistance from study staff, and in-person visits are not required for participation. Telephone genetic test result disclosure will begin in December 2018.

Conclusions: We have successfully developed online tools for cancer risk assessment that are accessible to underserved and low-literacy populations. These tools may be a cost-effective approach for improving the capture of family history data in the EMR. It does not require a provider to gather the information and the patient gets immediate feedback on results of the risk assessment and appropriate next steps.

This abstract is also being presented as Poster A37.

Citation Format: Heather Spencer Feigelson, Kathleen F. Mittendorf, Tia L. Kauffman, Katherine Anderson, Sonia Okuyama, Benjamin Wilfond, Gail P. Jarvik, Laura M. Amendola, Carmit McMullen, Fances Lynch, Donna Eubanks, Elizabeth Shuster, Jake Allen, Stephanie A. Kraft, Galen Joseph, Sandra Soo-Jin Lee, Katrina A.B. Goddard. Using web-based tools to assess familial cancer risk in diverse populations [abstract]. In: Proceedings of the AACR Special Conference on Modernizing Population Sciences in the Digital Age; 2019 Feb 19-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(9 Suppl):Abstract nr PR02.