Exploring psychological responses to genetic testing for Lynch Syndrome within the family context

Abstract

Objective Genetic testing for hereditary cancer susceptibility syndromes is a family centered process. Nonetheless, little research has explored how the family context affects psychological responses to genetic testing. We examine how personal test results and the test results of immediate and extended family members shape responses to genetic testing. Methods Individuals at risk of carrying a mutation associated with an inherited cancer susceptibility syndrome (Lynch syndrome) received genetic testing. Six months after receiving their results, participants reported on cancer distress, cancer worry and depressive symptoms. Results Among mutation carriers for Lynch syndrome, the higher the proportion of carriers in their immediate family, the less cancer worry and distress they reported. In contrast, mutation carriers and non-carriers with a high proportion of carriers in their immediate family and mutation carriers with a high proportion of carriers in their extended family were at elevated risk for clinically significant levels of depressive symptoms. Conclusion Personal test results alone are not highly predictive of psychological outcomes. Instead, the interaction between personal and family test results, or in some cases, family test results alone, predict key psychological outcomes. The current research has important implications for genetic counseling and intervention efforts.

Colorectal cancer in young adults: A difficult challenge

“…The finding of CRC in adolescents or young adults has always raised attention due to issues such as the emotional impact at diagnosis, the disease behavior and the possibility to be associated with genetic diseases[ 3 ].…”

Family Adjustment to Hereditary Cancer Syndromes: A Systematic Review

“…Reviewed studies also highlighted that pathogenic variant carriers may adjust differently to positive genetic testing results, depending on the history and presence of the syndrome in the nuclear and extended family [80]. These findings are in line with the Family Systems Illness model (FSI; [19]), which is increasingly applied in genomic disorders as a theoretical framework for understanding family challenges.…”

“…Most of them (n = 17) were conducted in the USA, while five studies were carried out in the Netherlands [62,65,66,71,78], two in Canada [67,79], two in Australia [66,68], one in the United Kingdom [69], one in Portugal [56], one in France [57], and another one in Japan [63]. Twenty-one records focused only on hereditary breast and ovarian cancer syndrome (HBOC); three focused on hereditary non-polyposis colorectal cancer syndrome (HNPCC) [59,63,80]; three studies comprised a sample of both HBOC and HNPCC pathogenic variant carriers [65,66,81]; one study included HNPCC, HBOC, and hereditary diffuse gastric cancer syndrome (HDGC) pathogenic variant carriers [56]; and one study regarded Familial Adenomatous Polyposis [71]. The sample size varied from a minimum of 17 participants (cumulative between pathogenic variant carriers and their family members) [79] to a maximum of 272 pathogenic variant carriers, only [65,66].…”

“…The presence of the pathogenic variant in the extended family was also a predictor of the psychological adjustment of newly discovered pathogenic variant carriers. A study with 179 first and second-degree relatives of HNPCC pathogenic variant carriers found that a higher number of carriers (both in the immediate and extended family) predicted more depressive symptomatology in pathogenic variant carriers six months after the test result [80]. Cancer-related worries also tended to rise with the increase in the number of HNPCC carriers in the extended family, and cancer-related distress and worry were higher when the proportion of carriers in the immediate family was low [71].…”

The structure of emotional support networks in families affected by Lynch syndrome

“…Decisions whether to receive genetic testing have implications for the psychological well-being of family members. Among those who do receive testing, psychological responses vary not only depending on one's own test results but also the test results of other family members (Eliezer et al, 2014). Moreover, those who receive genetic testing tend to report better psychological outcomes than those who decline testing, even when decliners are making informed decisions following receipt of genetics education and counseling (Aktan-Collan et al, 2000;Loader et al, 2002).…”