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L. Amendola1, E. Shuster2, M. C. Leo2, M. O. Dorschner3, B. A. Rolf1, B. H. Shirts4, M. J. Gilmore2, J. Zepp2, T. L. Kauffman5, K. F. Mittendorf5, S. Okuyama6, C. A. Bellcross7, C. L. Jenkins2, G. Joseph8, L. Riddle9, S. Syngal10, C. Ukaegbu10, K. A. Goddard2, B. S. Wilfond11, G. P. Jarvik12; 1Univ. of Washington, Seattle, WA, 2Kaiser Permanente Northwest, Portland, OR, 3Michael Dorschner, Seattle, WA, 4Univ of Washington, Seattle, WA, 5Kaiser Permanente, Portland, OR, 6Denver Hlth.and Hosp. Authority, Denver, CO, 7Emory Univ Sch. of Med., Atlanta, GA, 8Univ California San Francisco, San Francisco, CA, 9Univ. of California San Francisco, San Francisco, CA, 10Dana Farber Cancer Inst., Boston, MA, 11Seattle Children's Res. Inst., Seattle, WA, 12Univ Washington Med Ctr., Seattle, WA

Access to cancer genetic testing and services is inequitable. The CHARM study evaluated a multimodal intervention to address healthcare disparities in cancer genetics. Patients from clinics that serve populations with access barriers, who screened at risk for a hereditary cancer syndrome via online, literacy- and culturally-adapted cancer history collection tools (B-RSTTM 3.0, PREMM5TM), or with limited family history information, were offered exome-based panel testing for cancer risk and medically actionable secondary findings. We used descriptive statistics, electronic health record review, and inferential statistics to explore participant characteristics and findings, healthcare consultations and actions related to P/LP variants disclosed, and variables predicting category of findings, respectively. Of 967 participants consented for genetic testing and sent a saliva collection kit, 841 (87%) returned their kit to the lab. Overall, 40 (5%) participants had a P/LP cancer risk variant, including 10 in BRCA1/2 and 7 in Lynch syndrome genes; 9 (1%) had a medically actionable secondary finding. For 11/34 (32%) participants disclosed a P/LP cancer risk finding, the variant was previously known in the participant (N=7) and/or their family (N=4). Of 42 participants disclosed any P/LP variant, 16 (38%) were returned after March 1st 2020, when healthcare access limitations due to COVID-19 began. Recommended consultations with medical genetics and other providers were completed for 9/32 and 14/15 participants, respectively, after an average of 17 months post disclosure. Recommended actions (ex. breast MRI) were completed by 17/25 participants. Participant history of breast, ovarian, colon and/or endometrial cancer and score on the PREMM5TM tool were each associated with category of findings (history and colon cancer risk Cramér's V=.11, Fisher's exact=.02; history and breast cancer risk Cramér's V=.13, Fisher's exact=.01; PREMM5TM and colon cancer risk Cramér's V=0.22, Fisher's exact<.001). The CHARM study approach provided an accessible delivery model for hereditary cancer risk assessment and genetic testing. The 5% rate of P/LP variants in cancer risk genes identified in this population informs expectations and guidelines for hereditary cancer genetic testing. Results disclosure overlapped with COVID-19 related care restrictions, however interventions to increase adherence to genetic finding related recommendations are likely still necessary. Adapting provider-facing family history collection tools into patient-facing electronic applications can help identify patients at increased risk for hereditary cancer.
Session Type
Poster Presentations