Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome.

Cascade genetic testing provides a method to appropriately focus colonoscopy use in families with Lynch syndrome (LS). However, research suggests that up to two-thirds at risk to inherit LS don't participate. Within the United States, no studies have assessed colonoscopy use within this elusive and high-risk subset. We set forth to (1) document colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associated with completing colonoscopy. Data came from a cross sectional survey of families with molecularly confirmed LS. One hundred seventy-six (176) adults participated; 47 of unknown variant status and 129 with variant status known (59 carriers/70 non-carriers). Despite a high level of awareness of LS (85%) and identical recommendations for colonoscopy, NGT reported significantly lower use of colonoscopy than carriers (47% vs. 73%; p = 0.003). Our results show that perceived risk to develop colon cancer (AOR = 1.99, p < 0.05) and physician recommendations (AOR = 7.64, p < 0.01) are significant predictors of colonoscopy use across all family members controlling for carrier status. Given these findings, health care providers, should assess patients' perceived risk to develop cancer, assist them in adjusting risk perceptions and discuss recommendations for colonoscopy with all members in families with LS.Trial Registration Clinical Trials.gov Identifier: NCT00004210.

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

Genetic risk is particularly salient for families and testing for genetic conditions is necessarily a family-level process. Thus, risk for genetic disease represents a collective stressor shared by family members. According to communal coping theory, families may adapt to such risk vis-a-vis interpersonal exchange of support resources. We propose that communal coping is operationalized through the pattern of supportive relationships observed between family members. In this study, we take a social network perspective to map communal coping mechanisms to their underlying social interactions and include those who declined testing or were not at risk for Lynch Syndrome. Specifically, we examine the exchange of emotional support resources in families at risk of Lynch Syndrome, a dominantly inherited cancer susceptibility syndrome. Our results show that emotional support resources depend on the testing-status of individual family members and are not limited to the bounds of the family. Network members from within and outside the family system are an important coping resource in this patient population. This work illustrates how social network approaches can be used to test structural hypotheses related to communal coping within a broader system and identifies structural features that characterize coping processes in families affected by Lynch Syndrome.

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

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. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.