Abstract PR02: Using web-based tools to assess familial cancer risk in diverse populations

• Published in: Cancer epidemiology, biomarkers & prevention biomarkers & prevention, 2020-09, Vol.29 (9_Supplement), p.PR02-PR02
• Main 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.
• Format: Article
• Language: English
• ISSN: 1055-9965; 1538-7755
• DOI: 10.1158/1538-7755.MODPOP19-PR02

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-pers