Investigators suggest that results of a study may help to identify concerns of individuals undergoing panel testing and ways to support their needs.
Among an ethnically and socioeconomically diverse population of individuals undergoing genetic counseling and multigene panel testing for hereditary cancer risk, investigators found that psychological response corresponded to test results and demonstrated low distress and uncertainty.
This study, published in Cancer, is one of the first to demonstrate that moderate-risk pathogenic variant (PV) carriers experience outcomes similar to that of high-risk PVs without higher levels of uncertainty. These results may help to identify the various concerns of individuals undergoing panel testing and ways to support their needs.
“The overall reaction to panel testing corresponded to test results and did not show concerning levels of uncertainty or distress,” wrote the study authors, who were led by Julie O. Culver, MS. “Although PV carriers did experience more psychological distress than those with VUS or negative results, the absolute level of distress and uncertainty was low in all respondents.”
A total of 1264 individuals were counseled and tested with a 25- or 28-gene panel and completed a 3-month post-result survey which included the Multidimensional Impact of Cancer Risk Assessment (MICRA). The mean age of the participants was 52 years, 80% were female, and 70% had cancer. Moreover, 45% were non-Hispanic white, 37% were Hispanic, 10% were Asian, 3% were Black, and 5% were another race/ethnicity. Approximately 18% had received a high school education or less and 23% did not speak English.
Overall, according to the genetic test results, 7% had a high-risk PV, 6% had a moderate-risk PV, 35% had a variant of uncertain significant (VUS), and 52% were negative. Regarding the results of the survey, the majority of participants (92%) had a total MICRA score of 38 or less, meaning the participants typically “never,” “rarely,” or only “sometimes” negatively reacted to their results.
Multivariate analysis also revealed that the mean total MICRA scores was 29.7 among high-risk PV carriers and 24.8 among those with moderate risk, which was significantly greater than those with a VUS or negative result (17.4 and 16.1, respectively), corresponding to more uncertainty or distress. Of note, high- and moderate-risk PV carriers did not differ significantly from one another with regard to total MICRA score, uncertainty, distress, or positive experiences.
In addition, having cancer or less education was also found to be correlated a significantly higher total MICRA score; race/ethnicity was not associated with the total MICRA score. Given this discovery, the investigators indicated that the educational level of patients should be contemplated when approaching panel testing and methods for effective counseling.
“These recommendations guide clinicians in more straightforward counseling, which may improve care for moderate-risk PV carriers,” the authors wrote.
Moving forward, the investigators recommended that future studies of larger cohorts of PV carriers be conducted to expand the current study’s findings. Further, it was suggested that future studies are needed to determine how panel testing may impact those without a cancer diagnosis, as well as patients with cancer at various points in their diagnosis, treatment, and survivorship course.
Culver JO, Ricker CN, Bonner J, et al. Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients. Cancer. Published online December 15, 2020. doi: 10.1002/cncr.33357