The Family System Genetic Illness model postulates the importance of a family-centered approach in understanding the impacts of genetically influenced illnesses on coping and adaptation of family members due to the presence of future disease risk for multiple family members (1
). When mutations associated with hereditary disorders are identified, this information inevitably concerns multiple members of the family. Consequently, disclosure of genetic test results influences family relationships as well as theoverall family environment (1
). In one study, approximately 37% of those who underwent genetic testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC) reported positive changes in family relationships while 19% reported negative changes (2
), suggesting that provision of genetic test results acts as a stressor for some families.
About 2% to 5% of all colorectal cancer cases in the U.S. are estimated to be due to Lynch Syndrome, also known as HNPCC (3
). This is an autosomal dominant cancer susceptibility syndrome with estimated cumulative risk of developing the associated cancers (colorectal, endometrial, ovarian cancer and others) ranging between 47% and 85% if appropriate preventive screenings are not performed (4
). For families who are affected by Lynch Syndrome, knowing whether they carry a mutation in one of the associated mismatch repair genes (MLH1, MSH2, MSH6
) can be beneficial so that appropriate surveillance to prevent the onset of or identify a cancer at an earlier stage can be carried out (5
). Increased surveillance among carriers has been found to reduce the mortality and morbidity of associated cancers (6
Despite these benefits, knowing mutation status may also lead to psychological distress among individuals because of the high estimated lifetime risks for developing an associated cancer (7
). While some evidence suggests no long-term adverse psychological effects of genetic testing (10
), short-term changes in distress among recipients of genetic testing in mismatch repair genes have been reported (12
). Therefore, health professionals providing genetic testing services are expected to help recipients to anticipate their psychological reactions prior to testing (13
Recipients of genetic tests may share the results with their family members not only to inform others but also to activate family resources to facilitate coping (16
). When multiple family members have been tested, distress levels have differed depending on whether and how many other family members received the same test results (17
). Furthermore, the structure of the familial social support system has been shown to be associated with psychological adaptation to the given risk levels among women who are affected by hereditary breast and ovarian cancer (18
). These findings suggest that family relationships and social context influence coping strategies and, ultimately, psychological adjustment of genetic test recipients.
Sharing of health-related beliefs among family members is thought to be one of the family characteristics associated with the outcomes of genetic testing (19
). Such beliefs, shaped by a family’s past experiences, may lead to anticipatory distress associated with genetic test results (20
). Children of women who were distressed before receiving BRCA1/2
testing reported higher levels of worry about cancer than those who had mothers with lower distress levels (22
). Within families carrying BRCA1/2
mutations, members were found to share similar levels of cancer worry regardless of mutation carrier status (18
). The norm of cancer worry within the family, as well as the extent of deviations from this norm among family members, create a cultural context within which individual family members relate to each other and adapt to their shared hereditary risk. In families that undergo genetic testing for Lynch syndrome, high levels of cancer worry shared among family members may create an environment where conflictual relationships are particularly maladaptive leading to increase in psychological distress.
Currently, limited information is available to determine how family-level characteristics impact the psychological outcomes of genetic testing (19
). Understanding the role of family relationships in the psychological adjustment to genetic test results may help health professionals in identifying families that would benefit from additional interventions and in developing strategies to minimize psychological distress among test recipients. The studies introduced above explored the impact of genetic test results on family relationships. The current study adds to the literature by investigating the role of family relationships on genetic test recipients’ psychological adjustment, and by exploring how family trends in cancer worry influence this association.
The main objectives of this study were: (1
) to investigate the associations between perceived family relationships before genetic testing as well as changes in perceptions 6 months after results disclosure and the changes in depression scores over a 12-month period after disclosure; and (2
) to evaluate the moderating effect of family norms and discrepancy in worry about cancer on these associations.