Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations

Abstract

Objective Intrafamilial disclosure of hereditary cancer predisposition in BRCA1/2 and mismatch repair gene (MMR) syndromes allows appropriate prevention strategies in at‐risk relatives. We previously showed in a nationwide study that the uptake of genetic targeted testing (GTT) in these families was only 30%. We aimed to identify the clinical and psychosocial factors affecting the probands' intrafamilial disclosure and relatives' uptake of GTT in BRCA1/2 or MMR syndromes. Methods We assessed clinical variables, family history, and psychosocial variables of probands (depressive symptoms, anxiety, alexithymia, optimism, coping, family relationship, perception of cancer risks, and of hereditary transmission), together with disclosure and uptake of GTT within 103 French BRCA1/2 or MMR families. Results Among relatives eligible for GTT, 68% were informed of the predisposition, and 37% underwent GTT, according to probands' reports. Intrafamilial disclosure was inversely associated with the degree of kinship (P < .01). In multivariable analysis, disclosure increased with time since probands' genetic diagnosis (P < .01) and probands' feeling of family cohesion (0.01). GTT uptake increased with probands' depressive symptoms (0.02) and decreased with probands' perception of cancer risks (0.03). BRCA1/2 and MMR groups did not differ concerning family information and GTT uptake. Conclusions This study identified factors affecting disclosure to relatives and GTT uptake in BRCA1/2 and MMR syndromes and gives new insights to improve probands' follow‐up and intrafamilial sharing of genetic information.

Family communication of genetic test results among women with inherited breast cancer genes

“…Gender differences in communication are not surprising given that P/LP variants in common breast cancer-associated genes are most strongly associated with female cancer risks. Despite high rates of FC, prior efforts suggest 20-40% of family members remain uninformed (Barsevick et al, 2008;Hodgson et al, 2014;MacDonald et al, 2007;Sharaf et al, 2013), with substantially lower rates of FT compared to the overall rates of FC (Alegre et al, 2019;Bednar et al, 2020;Griffin et al, 2020;Hampel, 2016;Roberts et al, 2018), which is consistent with our findings. Interestingly, younger age was significantly associated with higher FC in our study, in contrast to a prior study in which older participants were more likely to share test results (Chopra & Kelly, 2017).…”

“…However, genetic testing rates among at-risk family members are low based primarily on reports from individuals tested at academic cancer centers (Barsevick et al, 2008;MacDonald et al, 2007;Sharaf et al, 2013). Moreover, rates of family testing (FT) are substantially lower compared to overall rates of FC (Alegre et al, 2019;Bednar et al, 2020;Griffin et al, 2020;Hampel, 2016;MacDonald et al, 2007;Petersen et al, 2018;Ricker et al, 2018;Roberts et al, 2018;Sharaf et al, 2013), with two recent studies reporting that only 30% of relatives had undergone testing, with similar FC and FT across moderate-and high-risk genes for multiple cancer types (Bednar et al, 2020;Ricker et al, 2018). Neither of these latter studies evaluated resources that were used or could be helpful in FC.…”

Coping response and family communication of cancer risk in men harboring aBRCAmutation: A mixed methods study

“…Limited disclosure within families is a significant barrier to cascade screening contributing to low uptake of genetic testing in blood relatives. 9 Indeed, studies suggest that less than half of families fully communicate BRCA risk to at-risk relatives 10 and only about one-half of relatives have cascade screening. 11 A qualitative study of 15 BRCA+ men revealed avoidant responses following learning their genetic status.…”

Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant

“…Many counselees at high hereditary BC risk reveal unmet needs about hereditary predisposition concerns [ 17 ]. Moreover, an identified genetic predisposition to cancer is not always shared among all family members [ [18] , [19] , [20] , [21] , [22] , [23] ], and when shared, it is generally incomplete or incorrect [ 24 ]. Thus, relatives of tested women may feel insufficiently informed.…”