Long‐term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome

Abstract

A cross-sectional study of 155 participants who underwent genetic testing for Lynch Syndrome (LS) examined long-term psychosocial and behavioral outcomes. Participants completed standardized measures of perceived risk, psychosocial functioning, knowledge, and a questionnaire of screening activities. Participants were on average 47.3 years and had undergone testing a mean of 5.5 years prior. Eighty four (54%) tested positive for a LS mutation and 71 (46%) negative. For unaffected carriers, perceived lifetime risk of colorectal cancer was 68%, and surprisingly, 40% among those testing negative. Most individuals demonstrated normative levels of psychosocial functioning. However, 25% of those testing negative had moderate depressive symptoms, as measured by the Center for Epidemiologic Studies for Depression Scale, and 31% elevated state anxiety on the State-Trait Anxiety Inventory. Being female and a stronger escape – avoidant coping style were predictive of depressive symptoms. For state anxiety, similar patterns were observed. Quality of life and social support were significantly associated with lower anxiety. Carriers maintained higher knowledge compared to those testing negative, and were more engaged in screening. In summary, most individuals adapt to genetic test results over the long term and continue to engage in screening. A subgroup, including some non-carriers, may require added psychosocial support.

Health-related quality of life in colorectal cancer survivors: are there differences between sporadic and hereditary patients?

“…As expected, individuals with a positive test result had higher perceived risk of developing CRC than those with a negative test result [ 20 ]. However, individuals who tested negative still reported feeling anxiety and they overestimated their risk for CRC, likely due to factors such as having a family history of CRC or prior experience with family or friends having had cancer [ 20 ]. Taken together, research with both sporadic and LS-associated CRC patients has shown that HRQoL and adjustment to genetic testing results is impacted by demographic factors, coping style, social support, family history, and prior cancer experience [ 1 , 20 ].…”

“…Genetic testing also has been studied in individuals with LS to determine its psychological impact as well as its impact on screening behaviors. One study found that QoL did not differ significantly between individuals who tested negative for LS and those who tested positive [ 20 ]. As expected, individuals with a positive test result had higher perceived risk of developing CRC than those with a negative test result [ 20 ].…”

“…One study found that QoL did not differ significantly between individuals who tested negative for LS and those who tested positive [ 20 ]. As expected, individuals with a positive test result had higher perceived risk of developing CRC than those with a negative test result [ 20 ]. However, individuals who tested negative still reported feeling anxiety and they overestimated their risk for CRC, likely due to factors such as having a family history of CRC or prior experience with family or friends having had cancer [ 20 ].…”

How does genetic risk information for Lynch syndrome translate to risk management behaviours?

“…Our study was able to explore some of the reasoning behind continued screening in the non-carrier group, which other studies have not been able to determine [27, 28, 32]. The five non-carriers (31%) with a personal history of polyps felt reassured by their continued screening practice to monitor their polyps, and almost all of them understood that their genetic status did not increase their risk of developing CRC.…”

“…For non-carriers, levels of psychological distress steadily decreased over 3 years. A recent study by Esplen et al [28] also found that in the long term individuals tend to adapt to their genetic test result, with self-reported screening being much higher in carriers than non-carriers. Studies to date have been unable to explain why some non-carriers continue to have unnecessary invasive screening when they are considered to be at population risk of CRC, nor do they report on women’s uptake of measures to address their increased risk of GC.…”