Introduction
The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer appears to be limited (Beran et al.
2008; Collins et al.
2007; Halbert et al.
2011; Hamilton et al.
2009; Smith et al.
2008). It is assumed that treatment options, such as preventive surgery or regular surveillance to detect cancer at an early stage, reassure most counselees. However, a small group (between 10 and 20 %) experience psychological problems after receiving an unfavorable DNA test result (Coyne et al.
2000; Esplen et al.
2001; Hopwood et al.
1998). Individuals in this group were studied to find prognostic factors that can predict which counselees are most likely to have psychological problems after genetic testing. Genetic counselors could then provide extra guidance and, if necessary, extra psychosocial support to these counselees.
The best-known prognostic factor for psychological problems after genetic testing for hereditary cancer is the presence of pre-existing psychological distress (Gritz et al.
2005; Lodder et al.
2001; Reichelt et al.
2004; Smith et al.
2008; Van Oostrom et al.
2003). However, few studies have examined a wide range of possible prognostic factors. Van Oostrom et al. (
2007) found that pre-existing psychological distress, an unfavorable DNA test result, complicated grief, relatives with cancer, and strong emotional illness representations were significant predictors for psychological problems after genetic testing. It is noteworthy that pre-existing psychological distress had more influence than receiving an unfavorable result. There were also prognostic variables with less predictive value: low disease coherence (i.e. experiencing the disease as uncontrollable), a passive or distraction-seeking coping style, and a closed style of communication within the family. Another population in which a wide range of prognostic factors was examined consisted of counselees with a
BRCA mutation who had chosen regular surveillance as a preventive option (Den Heijer et al.
2013; Gopie et al.
2012). Den Heijer et al. (
2013) concluded that pre-existing psychological distress, relatives with cancer, a passive and distraction-seeking coping style, excessive self-examination of breasts, and a high risk perception were predictive of psychological distress in the long term (5–8 years later), whereas reassuring thoughts as a coping style was a protective factor. In a review article by Gopie et al. (
2012), it appeared that a young age (under 40 years), high risk perception, pre-existing psychological distress, a passive way of coping, little social support, and family members with cancer were predictive of psychological problems and/or a reduced quality of life.
Several potential prognostic factors and the extent to which they could predict the occurrence of psychological problems after genetic testing were explored. Given earlier reports, it was expected that pre-existing psychological distress, an unfavorable result, and a high risk perception would be prognostic variables (Den Heijer et al.
2013; Gopie et al.
2012; Van Oostrom et al.
2007). Psychological distress was measured using both a general measure, “emotional distress”, and a specific measure, “worries about cancer.” The other variables that have been examined were age, knowledge about the disease, perceived personal control regarding the counseling process, the intention of having preventive surgery if the test result was unfavorable, type of cancer, education level, having children, having daughters, and marital status. Less is known about these variables. In some studies, a young age (Gopie et al.
2012) and perceived personal control (Van Oostrom et al.
2007) were prognostic variables. In other types of hereditary cancer, a lower educational level and being childless gave more distress (Gopie et al.
2012). Although marital status had no influence in one study (Van Oostrom et al.
2007), another found that counselees who were single were more depressed (Gopie et al.
2012). The type of cancer (
BRCA or Lynch syndrome) had no influence in one study (Van Oostrom et al.
2007).
Purpose of the Study
This research deals with a wide range of prognostic factors that can predict which counselees are most likely to develop psychological problems after presymptomatic genetic testing for hereditary cancer. Published data on this topic are limited: most studies have measured only a small number of prognostic variables. Prediction of possible psychological impact is important in health care, as it helps to target interventions to those counselees that are likely to benefit most. Another point of interest is that earlier research have shown that the psychological impact of an unfavorable presymptomatic genetic test result is limited. In many of these studies generalized distress has been measured. In this research also cancer-specific distress will be measured, as this outcome measure could better represent the type of distress many counselees experience. This research has an additive value by looking at many prognostic variables and by comparing generalized and specific distress.
Based on the earlier mentioned findings two hypotheses were tested:
1.
After genetic testing for hereditary cancer, counselees with an unfavorable DNA test result will not have significantly more psychological problems than those with a favorable result.
2.
The prognostic factors that are most predictive of psychological problems after genetic testing for hereditary cancer are an unfavorable result, pre-existing worries about cancer, pre-existing emotional distress, and a high risk perception of getting cancer.
Results
Pre-Test Analyses
Of the 165 participants, 110 received a favorable test result and 55 an unfavorable one. This imbalance can be explained by age-related penetrance (which means that older pre-symptomatic counselees have a lower chance of an unfavorable result because they are still unaffected). Table
1 shows the demographics and test variables of the pre-test analyses (T1). Counselees with a favorable result were significantly older than counselees with an unfavorable result [M = 47.00 years, SD = 13.1 vs. M = 40.70 years, SD = 13.5, t(160) = −2.87,
p < .05] and a significantly greater percentage had children [86 % vs. 67 %,
χ
2(1) = 7.41,
p < .05]. With respect to the test variables, counselees with a favorable result had a significantly lower risk perception [M = 32.30, SD = 7.73 vs. M = 35.71, SD = 5.33, t(136) = 3.18,
p < .05].
Table 1
The demographic and test variables of the participants before they knew their DNA test result (T1)
Demographic data |
Ageab
|
Mean (SD) | 47.00 (13.1) | 108 | 40.70 (13.5) | 54 | 0.01* |
Gender |
Women | 95.5 | 105 | 89.1 | 49 | 0.18 |
Men | 4.5 | 5 | 10.9 | 6 | |
Marital status |
Married | 76.4 | 84 | 60.0 | 33 | 0.06 |
Unmarried | 13.6 | 15 | 18.2 | 10 | |
Living together | 10.0 | 11 | 21.8 | 12 | |
Children |
Yes | 85.5 | 94 | 67.3 | 37 | 0.01* |
No | 14.5 | 16 | 32.7 | 18 | |
Cancer type |
BRCA1/2 | 86.4 | 95 | 76.4 | 42 | 0.13 |
Lynch syndrome | 13.6 | 15 | 23.6 | 13 | |
Education |
Primary school | 1.8 | 2 | 1.8 | 1 | 0.33 |
Secondary school | 20.9 | 23 | 18.2 | 10 | |
Low vocational education | 14.5 | 16 | 3.6 | 2 | |
Middle vocational education | 37.3 | 41 | 47.3 | 26 | |
Higher vocational education | 16.4 | 18 | 21.8 | 12 | |
University education | 9.1 | 10 | 7.3 | 4 | |
| mean (SD) |
n
| mean (SD) |
n
|
p
|
Test variables |
PPC
a
| 1.37 (0.36) | 104 | 1.49 (0.39) | 54 | 0.06 |
Knowledge
a
| 6.06 (2.41) | 99 | 6.27 (2.23) | 52 | 0.61 |
Risk perception
a
| 32.30 (7.73) | 101 | 35.71 (5.33) | 51 | 0.01* |
Decision making
a
| 3.42 (1.17) | 109 | 3.69 (1.16) | 54 | 0.18 |
CWS
a
| 0.30 (0.66) | 109 | 0.46 (0.75) | 54 | 0.16 |
GHQ
a
| 1.42 (2.57) | 108 | 1.18 (2.13) | 55 | 0.56 |
Dropouts
The 160 participants who had returned two or more questionnaires were compared with the 38 dropouts regarding demographics and test variables seen at T1 (the five dropouts after T2 were not considered as participants for this analysis). There were no significant differences. The DNA test results of the 33 participants who dropped out after T1 are unknown, because the result was only asked in T2. Of the five dropouts after T2, four had an unfavorable test result and one had a favorable result.
Research Hypotheses
Emotional distress did not differ between counselees with a favorable and unfavorable result immediately after they learned the result (T2) or 4–6 weeks later (T3). However, regarding participants’ worries about cancer, the genetic test result did have an influence, but only after 4–6 weeks (T3). Counselees with an unfavorable outcome were more concerned about cancer
F(1, 123) = 7.19,
p < .05,
r = .23 (see Table
2). Thus, hypothesis 1 was partially supported.
Table 2
Results of hypothesis 1
CWS T2 | Unfavorable | 0.83 | 0.99 | 47 | 0.08 |
Favorable | 0.42 | 0.76 | 91 |
CWS T3 | Unfavorable | 0.63 | 0.83 | 41 | 0.01* |
Favorable | 0.25 | 0.60 | 87 |
GHQ T2 | Unfavorable | 2.30 | 2.86 | 46 | 0.64 |
Favorable | 1.84 | 3.08 | 91 |
GHQ T3 | Unfavorable | 1.74 | 2.61 | 42 | 0.10 |
Favorable | 1.00 | 2.65 | 87 |
-
Hypothesis 2. The prognostic factors that are most predictive of psychological problems after genetic testing for hereditary cancer are an unfavorable result, pre-existing worries about cancer, pre-existing emotional distress, and a high risk perception of getting cancer.
First, a univariate regression analysis was performed for each potentially prognostic variable to see if there was a significant relationship with any of the outcome variables (see Table
3). This analysis showed which variables had the most influence on cancer worries and emotional distress after genetic testing. Only the significant values are shown (
p ≤ .05). The patient characteristics with a significant relationship were included in a multiple regression analysis. With the use of a backward eliminating procedure, we explored which prognostic factors were the best predictors of cancer worries and emotional distress after genetic testing (see Table
4).
Table 3
Univariate regression analyses on the influence of patient characteristics on psychological problems after genetic testing
Outcome measure | CWS T2 | CWS T3 |
Cancer worries |
Significant prognostic variables |
DNA result | −0.20 | 0.01 | 0.04 | −0.25 | 0.00 | 0.05 |
Pre-existing cancer worries | 0.50 | 0.00 | 0.24 | 0.36 | 0.00 | 0.12 |
Pre-existing emotional distress | 0.34 | 0.00 | 0.11 | 0.19 | 0.03 | 0.03 |
Risk perception | 0.37 | 0.00 | 0.13 | 0.20c | 0.02 | 0.03 |
Age | −0.23 | 0.00 | 0.05 | | | |
Decision making | 0.17 | 0.04 | 0.02 | | | |
Outcome measure | GHQ T2 | GHQ T3 |
Emotional distress |
Significant prognostic variables |
DNA result | | | | −0.17 | 0.05 | 0.02 |
Pre-existing cancer worries | 0.40 | 0.00 | 0.15 | 0.29 | 0.00 | 0.08 |
Pre-existing emotional distress | 0.47 | 0.00 | 0.22 | 0.26 | 0.00 | 0.06 |
Risk perception | 0.17 | 0.04 | 0.02 | | | |
Decision making | | | | 0.17 | 0.04 | 0.02 |
Being single | 0.18 | 0.03 | 0.03 | | | |
Table 4
Significant prognostic factors on psychological problems after genetic testing determined by multiple regression analysis
Cancer worries |
Outcome measure CWS T2 |
Pre-existing cancer worries | 0.45 | 0.00 | 0.31 | 0.80 |
Risk perception | 0.26 | 0.00 | | |
Being single | −0.19 | 0.01 | | |
Outcome measure CWS T3 |
Pre-existing cancer worries | 0.44 | 0.00 | 0.23 | 0.77 |
DNA result | −0.24 | 0.00 | | |
Being single | −0.14 | 0.10 | | |
Emotional distress |
Outcome measure GHQ T2 |
Pre-existing emotional distress | 0.43 | 0.00 | 0.18 | 0.72 |
Outcome measure GHQ T3 |
Pre-existing cancer worries | 0.32 | 0.00 | 0.10 | 0.66 |
The multiple regression analysis showed that worries about cancer at T2 were best predicted by pre-existing cancer worries, a high risk perception, and being single (explained variance was 31 % and AUC was 80 %). At T3, worries about cancer were best predicted again by pre-existing cancer worries and being single, but also by an unfavorable test result (explained variance was 23 % and AUC was 77 %). Emotional distress at T2 was best predicted by prior emotional distress (explained variance was 18 % and AUC was 72 %). At T3, emotional distress was best predicted by pre-existing cancer worries (explained variance was 10 % and AUC was 66 %). Thus, hypothesis 2 was partially supported.
Discussion
As expected, after genetic testing for hereditary cancer, counselees with an unfavorable result show no more emotional distress than those with a favorable result. This was demonstrated shortly after the DNA test result was known, as well as 4–6 weeks later. However, counselees with an unfavorable result did ultimately have more concerns about cancer than those with a favorable result, only not directly after the test result was known, but 4–6 weeks later. These results suggest that an unfavorable result for hereditary cancer leads to a specific psychological impact in the form of more concerns about cancer a few weeks after the result is known. This may be explained by the fact that these counselees are confronted with a proven high lifetime risk of cancer. In prior research where
general psychological distress was studied (e.g., Beran et al.
2008; Collins et al.
2007; Smith et al.
2008), these concerns about cancer could have been missed, which could lead to the erroneous conclusion that an unfavorable result carries no psychological distress. Although these studies have also used the Impact Event Scale (IES) as a specific cancer distress measure, this instrument could be incapable to measure worries about cancer, as it measures a stress reaction after a traumatic incident instead of worries about getting cancer in the future.
Worries about cancer after DNA testing were best predicted by four factors: pre-existing cancer worries, an unfavorable result, a high risk perception of getting cancer, and being single. Pre-existing emotional distress did not predict cancer worries. Strikingly, a high risk perception of getting cancer had an effect on worries about cancer only shortly after the result was made known, while an unfavorable result only had an effect 4–6 weeks later. The finding that single people are more worried about cancer than those with a partner was not predicted, because this factor was not known from earlier research. Single people may have more cancer worries because they have less social support. Worries about cancer were better predicted by pre-existing worries about cancer than by the actual genetic test result, which is an important consideration for counseling and corresponds with previous results (Meiser
2005; Van Oostrom et al.
2007). Our findings about the influence of an unfavorable result, high risk perception and pre-existing cancer worries on worries about getting cancer corresponds with prior research where a wide range of prognostic variables have been examined (Den Heijer et al.
2013; Gopie et al.
2012; Van Oostrom et al.
2007).
Although the explained variance was low, these prognostic variables may enable us to identify those counselees who are more likely to be affected by cancer worries immediately after the DNA test result is made known and some weeks later. In contrast, it is more difficult to predict who will develop emotional distress after genetic testing. Pre-existing emotional distress was the only predictive factor immediately after the result was known, whereas after 4–6 weeks, pre-existing worries about cancer appeared to be the only relevant prognostic factor. The DNA test result can play an indirect role in emotional distress, since an unfavorable result led to more worries about cancer and such worries also increase emotional distress.
Study Limitations
The strengths of this study are its prospective design, the large series of measurements, the homogenous population, the large study sample, the broad range of prognostic variables considered, and the double outcome measure. One limitation is that the influence of social factors, personality and coping style were not examined. Another limitation may be that, although this study population contained the most prevalent hereditary cancer syndromes (
BRCA and Lynch syndrome), it is not clear whether these findings can be generalized to other, less common, forms of hereditary cancer. The participants came from families in which the causative gene mutation had been identified. Thus, there were no counselees with an “unclear test result” or “variant type of result” in this study, which means that it is unknown how these findings apply in these cases. Some measure instruments had low reliabilities, which means that those results should be interpreted with caution. Finally, the follow-up measure was 4–6 weeks after the DNA result was known, which is relatively short. It is unclear whether the measured effects persist in the longer term. The studies available on long-term effects show that distress decreases with time (Foster et al.
2007; Halbert et al.
2011). The fact that counselees with an unfavorable outcome were, on average, younger than counselees with a favorable outcome, can be explained by the age-related penetrance of these diseases. This may also explain why these counselees had a higher prior risk perception. Furthermore, because the counselees with a favorable outcome were, on average, older, it is understandable that they more often had children.
Practice Implications
In genetic counseling for individuals at 50 % risk of carrying an inherited
BRCA1/2 mutation or Lynch syndrome more focus should be placed on cancer worries besides general distress. Genetic counselors should offer additional guidance to counselees with many worries about cancer or emotional distress prior to genetic testing, to those with a high risk perception of getting cancer, and to those with little social support. If counselees would like to receive treatment against cancer worries, this could be offered in the form of cognitive interventions, where counselees learn to contest disturbing thoughts and focus more on reassuring thoughts. These kinds of interventions could be taught to genetic counselors by psychologists and could be offered to counselees who score high on cancer worries in screening instruments for genetic testing. Although no research is yet available about cognitive interventions to lessen cancer worries, cognitive methods are successful in the treatment of generalized anxiety disorder (Hanrahan et al.
2013), a disorder where disturbing worries are the main symptom.
Research Recommendation
Knowing that worries about cancer play a major role before and after genetic testing, future research should assess the most effective ways of coping and the best guidance regarding these worries. Future research could also clarify what happens to patients with cancer worries in the longer term. As it appears that single people have more worries about cancer, it could be worthwhile to study the influence of partner status and social support in future research.
Compliance with Ethical Standards
Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.