Background: Universal approaches to germline testing for hereditary cancer risk to identify actionable mutations that otherwise would be missed using more traditional approaches (e.g., personal and family history) are increasingly being taken (Gima et al., 2024). The psychological impact (PI) of undergoing such testing without pre-test genetic counseling has been favorable (Swisher et al., 2023), however, assessments of more scalable models are limited. We examined the PI of germline testing for hereditary cancer risk syndromes on affected (those with a history of cancer) and unaffected (those without a history of cancer) individuals who receive limited pre-testing genetic counseling in scalable model and explored how PI relates to sharing results with family.
Methods: 3,385 individuals enrolled in City of Hope’s INSPIRE genomic testing study were sent a survey examining PI related to genetic test results (~two weeks following disclosure). Patients completed the 12-item Feelings About genomic Testing Results scale (FACToR; range=0-48) and were asked if they communicated test results to family. A subset of these individuals completed a follow-up survey at six months. Individuals who did not recall receiving results or did not complete at least one FACToR item were excluded from analysis.
Results: 34% of patients responded to the survey distributed two weeks following disclosure (n=846), and most did not report high PI (n=812; 96.0%). Affected patients had higher PI than unaffected patients (Mdiff=2.56, p<.001), and patients with a pathogenic result (PLP) exhibited higher PI than those receiving a variant of uncertain significance (VUS) (Mdiff=4.38, p<.001) or a negative result (Mdiff=6.54, p<.001). PLPs also exhibited decreased PI over time (Mdiff = -1.96, p = .042) while VUSs increased slightly (Mdiff =0.95, p=.006). Although there was a positive relationship between sharing germline test results with family and having a PLP status vs. not (direct effect = 1.06, p < .001), there was an indirect effect of this relationship whereby increased PI served to decrease sharing of results with family (indirect effect = −0.30, CI [–0.47, –0.16]).
Conclusion: This research demonstrates that most patients do not exhibit high PI after receiving germline testing for hereditary cancer, even with limited pre-test genetic counselling, and that efforts to mitigate PI and increase sharing results with family should focus on affected individuals and PLPs.