A primary goal of genetic testing in families with Lynch syndrome is to focus cancer-screening resources on family members at increased risk to develop cancer (mismatch repair mutation carriers) and to avoid unnecessary procedures (and associated risks) in family members who are not at increased risk for cancer. Identifying modifiable factors that assist mutation carriers to adapt to their risk for cancer and appropriately utilize available prevention options seems paramount in maximizing the benefits of genetic testing. The findings from this study provide compelling evidence that persons who undergo colonoscopy following the receipt of test results are significantly less likely to experience depressive symptoms at or above a level of clinical concern than mutation carriers who do not undergo colonoscopy screening.
We pose two explanations for these results. First, the results may indicate that completing colonoscopy soon after the receipt of test results may play a role in assisting psychological adaptation through behavioral coping processes. The identification of a mutation in the individual through genetic testing clarifies their risk for the colon cancer, but also has the potential to raise (or renew) concerns about whether they currently have colon cancer, Clarifying uncertainty about their cancer status through completion of colonoscopy may help to alleviate associated emotional distress. Second, mutation carriers experiencing higher levels of depressive symptoms following receipt of their test results may not be able to identify or mobilize resources necessary to complete colonoscopy. Further evaluation may be warranted to assess their psychological wellbeing, while facilitating their completion of recommended cancer screening.
We believe these results have important implications for the medical management of individuals identified to carry MMR mutations. Efforts to identify mutation carriers who have not recently undergone colonoscopy with the intent to facilitate screening, may help resolve their uncertainty relative to cancer worry, facilitate emotional adaptation and ultimately, reduce the morbidity and mortality associated with LS cancers. Completing a colonoscopy soon after confirmation of mutation carrier status may be an important step in facilitating adaptation to the threat of cancer. Furthermore, utilizing colonoscopy as a tool to address emotional distress and cope with the threat of colon cancer may extend over the lifetime of the individual as the increased risk for colon cancer persists necessitating periodic colonoscopic evaluation. It seems feasible that carriers may experience cyclic changes in distress / cancer worry relative to their cycle of colonoscopy use; lower following the completion of a colonoscopy with no polyps or cancer detected, but potentially increasing as the interval of time between colonoscopies increases.
Colonoscopy screening post-receipt of mutation carrier results may not necessarily prevent or treat clinically significant levels of depressive symptoms as the varied etiologies for depressive symptoms within this population are complicated and extend beyond cancer-screening. A number of these individuals may need assistance in addressing the psychological barriers that may be preventing colonoscopy use or may be experiencing emotional distress related to the uncertainty of their cancer status. Thus, some may benefit from referral to a psychiatrist, psychologist or professional counselor for assistance in further evaluating their depressive symptoms. For those persons experiencing clinical levels of depression, encouragement to undergo colonoscopy could be considered within a clinical model that includes counseling directed towards treating depressive symptoms.
The results of this study should not be confused with the literature on adherence (compliance) to published cancer screening recommendations for carriers of mismatch repair mutations. In contrast, the aim of this study was to investigate whether health-screening behavior was associated with depressive symptoms, regardless of whether the screening was undertaken prior to the recommended age or outside of the recommended screening intervals for mutation carriers. Certainly, excessive use of cancer screening is not appropriate. However, seeking reassurance that one does not have cancer or facilitating adaptation to newly confirmed mutation status through the uptake of colonoscopy is consistent with the Self-regulation Model of Illness Representations, which posits that different cognitive and emotional threats presented to individuals facing disease risk, may influence their interest and uptake of health screening. In this example, the desire to undergo colonoscopy may serve as a coping strategy to moderate underlying emotional distress following the identification of the cancer susceptibility mutation.
Depressive symptoms were assessed by the participants’ completion of the Center for Epidemiology Studies-Depression (CES-D) scale. While the CES-D has been shown to correlate with clinical ratings of the severity of depression, it is not a psychiatric diagnosis. The dichotomous categorization of the study population into “high” or “low” CES-D scores may under or over-represent the actual occurrence of clinical depression. Therefore, the true incidence of clinical depression within this population is not known.
Other hereditary diseases such as Hereditary Breast and Ovarian Cancer have cancer-screening modalities, which are less effective in detecting the cancers of concern, and therefore may not demonstrate the psychological benefits presented within this study.
And finally, the data for this study were collected within the structure of a clinical research investigation offering comprehensive genetic counseling and testing and may not reflect the representative outcomes in a clinical setting.
Undertaking a medical procedure is most often considered as a cognitively based, problem-focused coping strategy that is initiated to manage disease risk. [24
] However, growing arguments and an emerging literature of empirical evidence also exists to support the claim that medical screening may also be undertaken with the intent to be reassured about one’s health in the face of disease risk. [23
] Based upon our findings, anticipatory counseling regarding the impact of screening behavior on adaptation and psychological wellbeing may be beneficial in persons considering genetic testing for LS. Additional studies are warranted to explore the potential pathways that health behavior may play in facilitating psychological wellbeing and adaptation. More specifically, future research might explore the impact of expeditious scheduling of post-test colonoscopy on psychological wellbeing to inform practice guidelines.