Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact

Table 1 gives a summary of each of the 17 papers [29‐45] included in our review. The vast majority of the patients with colorectal cancer were older than 50 years. As a result of the heterogeneity of psychological variables and used measurement instruments of the retrieved studies, a limit was set in describing those studies that used the European Organization for Research and Treatment in Cancer (EORTC) QLQ-C30 scale. In ten out of the 17 studies, the European Organization for Research and Treatment in Cancer (EORTC) QLQ-C30 scale had been used to measure the quality of life of the patients [29‐32, 35, 41, 43‐46]. This scale has frequently been used to assess health-related quality of life in various groups of cancer patients [47].

The mean scores on functional status were retrieved from the studies, because an important aim of this review was to evaluate functioning after treatment for colorectal cancer. The scores are presented in Table 2. Our comparison may not do justice to the special qualities of each individual study, as their designs were intended to provide answers to specific research questions, not to facilitate comparability. Nevertheless the comparison adds new dimensions to our knowledge in this area. To evaluate the significance of these function scores, they were compared to reference data from a random sample (n = 2081) of the general (non-cancer) adult population [47] and from breast cancer patients [48] (Table 2). According to the MIPA (MSI test by pathologist) procedure, MSI-positive patients are usually informed about the results and offered genetic testing within 3 months after surgery. Therefore, clear distinction is made between psychological functioning in the first 3 months after treatment and in the subsequent period up to 1 year after treatment. In the publications of Schmidt [42] and Tsunoda [44] the EORTC-QLQ-C30 data were presented in graph and mean data could not be obtained and used reliably. The study of Wilson et al. [45], only presented mean data on EORTC-QLQ-C30 Global Health Status. Therefore, these three studies are not reflected in Table 2.

Regarding the psychosocial impact of CRC with other instruments than the EORTC-QLQ-C30, it appeared that often different questionnaires were used, concerning patients at different ages, with different types of colorectal cancer and often with different times of data collection. Still, an overall impression was obtained that demands of illness, especially psychosocial and existential concerns, were greater among the youngest age group below 45 years. Moreover, patients with a stoma showed higher levels of depression and poorer social function than non-stoma patients. Especially men with a stoma reported sexual problems as did patients after treatment for rectal cancer”.

In two studies, patients younger than 45 years reported greater demands of illness (hardships or stressors that require coping or adjustment to illness) than the older patients [33, 36]. Fernsler et al. [33] also showed that such demands of illness were greater in men and in men and women who had received treatment in the previous 2 months; in contrast, the women reported significantly higher spiritual well-being than the men. This leads to the conclusion that colorectal cancer caused more hardships and stressors in men and in patients diagnosed before the age of 45 years.

Summaries of the ten relevant studies are shown in Table 3. Nearly all the studies had gathered data on the patients before disclosure of the genetic test result. Two studies had made assessments pre-test and post-test [16, 51], whereas one study had only made assessments post-test [52]. Very few studies gave specific details about the time interval since the diagnosis of colorectal cancer and inclusion in the study [53, 54]. Table 3 also shows the diversity in outcome measures and (self-administered) questionnaires to gather data [16, 51, 55‐58]. The aim of this review was to determine how patients with colorectal cancer reacted to (the offer of) genetic testing. Therefore, the psychological reactions were documented according to stage of genetic testing the patients had reached at the time of the studies. The process of genetic counselling was divided into three distinct stages: (1) Period of genetic counselling and if desired, having a blood sample taken. (2) Period of waiting for the result of the DNA analysis. (3) Period after disclosure of the genetic test result.

Other studies obtained data on the patients after patients had consented to have a blood sample taken for DNA analysis. Keller [55] and Murakami found clinically relevant depression scores before and after genetic counseling in 19 and 5% of the patients, respectively [51]. Another study reported clinically relevant anxiety levels in 32% of the patients before genetic counseling, whereas the scores dropped to 16% after genetic counseling [55]. In a group of patients who had given a blood sample for genetic testing, the prevalence of depressive symptoms was 24%, although all the scores remained within the clinically normal range [54]. Patients in the age group of younger than 50 years had higher levels of anxiety and depression but the scores were within the normal range; their data also showed significant associations between pre-test distress, a history of familial mortality from colorectal cancer and anticipation of becoming depressed post-test [53]. Characteristics associated with depression were female sex, less formal education, fewer sources of social contact; associations with anxiety were younger age, less formal education, Non-Caucasian race, more severe disease and fewer sources of social contact [54]. Intrusion scores reached clinically relevant levels in 14% of the patients [55]. Higher intrusion and avoidance scores were found in women and in the patients who had been diagnosed with colorectal cancer less than 1 year previously, although all the scores remained within the normal clinical range [53]. Clinically relevant cancer-worry-related distress was detected in 25% of the patients before genetic counseling, but after genetic counseling, this dropped to 13% [55]. In conclusion, most psychological distress scores remained within the normal range before the result of the genetic test was disclosed, although a minority of the patients developed clinically relevant anxiety and depression levels. Vulnerable subgroups were female patients and male patients diagnosed before the age of 50 years.

Disclosure of the genetic test result led to significant depression scores in 7% of the patients and post-traumatic stress symptoms in 5% [51]. Lynch syndrome mutation carriers showed higher test-specific distress than non-carriers but these scores returned to baseline between 2 and 12 weeks after receiving the test result [16]. The only predictor of psychological distress after disclosure of the test result was a history of depression [51]. It can be concluded that disclosure of the genetic test result did not lead to any relevant levels of psychological distress in most patients. Vulnerable subgroups seemed to be patients with pre-test distress, high familial mortality from colorectal cancer and a history of depression. Therefore, a subgroup of vulnerable patients whose genetic test discloses Lynch syndrome mutation carrier ship may benefit from extra psychological counselling.