Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

Abstract

Objectives and settingAdvances in multigene panel testing for cancer susceptibility has increased the complexity of counselling, requiring particular attention to counselees’ psychosocial needs. Changes in psychosocial problems before and after genetic testing were prospectively compared between genetic test results in women tested for breast or ovarian cancer genetic susceptibility in French, German and Spanish clinics.Participants and measuresAmong 752 counselees consecutively approached, 646 (86%) were assessed after the initial genetic consultation (T1), including 510 (68%) affected with breast cancer, of which 460 (61%) were assessed again after receiving the test result (T2), using questionnaires addressing genetic-specific psychosocial problems (Psychosocial Aspects of Hereditary Cancer (PAHC)-six scales). Sociodemographic and clinical data were also collected.ResultsSeventy-nine (17.2%), 19 (4.1%), 259 (56.3%), 44 (9.6%) and 59 (12.8%) women received aBRCA1/2, another high/moderate-risk pathogenic variant (PV), negative uninformative, true negative (TN) or variant of uncertain significance result (VUS), respectively. On multiple regression analyses, compared with women receiving another result, those with a VUS decreased more in psychosocial problems related to hereditary predisposition (eg,coping with the test result) (ß=−0.11, p<0.05) and familial/social issues (eg,risk communication) (ß=−0.13, p<0.05), almost independently from their problems before testing. Women with a PV presented no change in hereditary predisposition problems and, so as women with a TN result, a non-significant increase in familial/social issues. Other PAHC scales (ie, emotions, familial cancer, personal cancer and children-related issues) were not affected by genetic testing.ConclusionsIn women tested for breast or ovarian cancer genetic risk in European genetics clinics, psychosocial problems were mostly unaffected by genetic testing. Apart from women receiving a VUS result, those with another test result presented unchanged needs in counselling in particular about hereditary predisposition and familial/social issues.

Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients

“…15 Although other studies have measured psychological responses among patients undergoing cancer panel testing, they were not designed to measure outcomes specifically in moderate-risk PV carriers. [16][17][18][19][20] Additionally, individuals of diverse ethnic or socioeconomic backgrounds have not been well represented in previous studies. 16,17,19 We conducted a multicenter, prospective study of a hereditary cancer panel in a diverse cohort of 1264 participants responding to a survey 3 months after disclosure of the results.…”

“…One small study from Spain comparing carriers of high‐ and moderate‐risk PVs found higher distress and uncertainty in moderate‐risk carriers than high‐risk carriers 15 . Although other studies have measured psychological responses among patients undergoing cancer panel testing, they were not designed to measure outcomes specifically in moderate‐risk PV carriers 16‐20 . Additionally, individuals of diverse ethnic or socioeconomic backgrounds have not been well represented in previous studies 16,17,19 …”

Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2‐negative individuals who had genetic testing in a large urban comprehensive cancer center

“…In addition, further complexity arises with the increased identification of VUS 28 in regards to medical management and patient anxiety, 6 although other reports have suggested that women did not have an increase in psychosocial problems following genetic testing. 29 We identified a higher percentage of pathogenic variants (20.0%) among the Arab population in comparison to NHW (13.3%) although there was a measurable difference in population sizes in these two cohorts. However, similar to prior studies, 21 we did not identify a statistically significant higher rate of pathogenic variants across different race and ethnic groups on multivariate analysis.…”

How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis

“…The computation of socio‐demographic, clinical and psychosocial univariate and bivariate statistics has been described previously …”

“…30 The computation of socio-demographic, clinical and psychosocial univariate and bivariate statistics has been described previously. 24,31 Network analyses provide graphs, which consist of two elements: nodes (circles; observed variables corresponding to the Brief-COPE and PAHC domains in orange and blue, respectively) and edges (lines; links or inter-relationships between these variables). 30,32 The links between variables are estimated using partial between networks reflects that if the strength of a relationship between two variables is high in a network, this relationship is also strong in the other network.…”