High-risk clinic follow-up after genetic counseling and testing: Uptake patterns and predictors from a tertiary cancer center.

Abstract

e22541 Background: Patients undergoing genetic counseling (GC) and germline testing (gGT) for hereditary cancer (CA) risk are frequently advised to pursue enhanced CA surveillance in specialized high-risk clinics (HRC) based on identification of a germline pathogenic/likely pathogenic variant (P/LP) or other strong personal or familial risk factors. However, adherence to recommended high-risk follow-up (FU) and factors influencing uptake remain poorly characterized. Methods: We performed a retrospective review of patients referred for GC/GT who were advised to consider FU in a HRC for women (Familial Risk Assessment Program, FRAP) or men (Prostate Risk Assessment Program, PRAP) at our CA center. GC/GT was conducted at the main CA center and 4 satellite clinics and results were disclosed in person or via telemedicine. The primary outcome was > 1 FU visit in a HRC within 2 years of results disclosure. Secondary outcomes included: 1) any d ocumented HRC FU or 2) any d ocumented CA risk screening or FU, including non-high-risk care. Germline testing results were categorized as P/LP or variant of uncertain significance (VUS), and further stratified by whether the affected gene was an HRD gene (ATM, BRCA1/2, BRIP1, CHEK2, PALB2, RAD51C). Demographic and FU data were extracted from the EMR. Results are reported using descriptive summary statistics and chi-square testing. Results: From > 500 pts undergoing GC/GT (1/2021-12/2023), 185 pts recommended to seek HRC FU were identified (88% FRAP, 12% PRAP). Mean age was 50.6 yr; 86.5% were female. Race/ethnicity was 64% White and 36% other. At post-test counseling, 29.7% (55/185) had a P/LP variant, of whom 74.5% (41/55) were in in HRD genes. Additionally, 28.7% (53/185) had > 1 VUS, including 35.8% (19/53) with a VUS in an HRD gene. Only 23.8% (44/185) had FU in FRAP/PRAP. An additional 7% had high risk FU outside FRAP/PRAP, 26.5% had routine (non-high-risk) FU, and 24.90% had no documented FU. Sex and race/ethnicity were not associated with HRC FU. Pts > 50 yr were more likely to have only routine FU (63.3% vs 36.7%, p = 0.08). Pts with prior CA were less likely to attend HRC FU (11.9% vs 26.7%; p = 0.05). FRAP/PRAP FU was more common among pts with any L/LP variant (36.4% vs 18.5%; p = 0.009) and particularly those with an HRD P/LP variant (43.9% vs 18.1%; p = 0.001). Presence of a VUS in an HRD gene was not associated with increased FU. GC/GT performed at satellite clinics was associated with lower FRAP/PRAP FU ( p = 0.017) and any HRC FU ( p = 0.012). Telehealth disclosure was associated with lower HRC FU, particularly among pts > 50 yr p = 0.009). Conclusions: Fewer than 1/3 of pts advised to pursue HRC care after GC/GT completed such FU. Uptake is strongly associated with presence of a P/LP variant in HRD genes, but not with VUS in HRD genes. Novel interventions to improve high-risk clinic engagement following GC/GT are a CA prevention priority.