Effects of spouses on distress experienced by BRCA1 mutation carriers over time
Abstract
Concerns about psychological distress have arisen regarding genetic testing for susceptibility to late-onset diseases such as breast and/or ovarian cancer. Early results do not show large-scale psychological distress among those tested; therefore, research is now focusing on identifying subgroups that may be at risk for negative outcomes. Social support has been shown to buffer both negative physical and psychological outcomes in health research. The role of spouses as part of the tested person's social support system is shown to be significant in a sample of 57 BRCA1 mutation carriers. Separately, the tested person's perception of his/her spouse's anxiety and his/her perception of the spouse's support at the time of testing are predictive of the tested person's psychological distress up to 2 years after testing. The interaction of the two variables is even more predictive. For those tested who perceived their spouse to be both anxious and nonsupportive at the time of testing, distress levels reached clinically significant levels 1 week after results were received and remained above clinical threshold measured 4 months, 1 year, and 2 years after testing. While the effects were greatest for women, they were significant for both male and female carriers. These findings are an important addition to the literature and will augment clinicians' ability to identify individuals potentially at risk for negative responses to adverse genetic test results. © 2003 Wiley-Liss, Inc.
INTRODUCTION
The discovery of the first breast and/or ovarian gene that is associated with breast and ovarian cancer susceptibility (BRCA1) occurred in 1994 [Miki et al., 1994]. This development added to an ongoing discussion of concerns regarding the possible negative effects of presymptomatic knowledge of carrier status for late-onset diseases such as cancer [Huggins et al., 1992; Botkin et al., 1996; Tibben et al., 1997; DudokdeWit et al., 1998a,b; Freedman, 1998]. Concerns were raised about employment and insurance discrimination and about possible negative psychological consequences of knowing one's carrier status. We report here on distress among carriers of a BRCA1 mutation in a kindred where the mutation confers an 88% risk of either breast or ovarian cancer by age 70 [Smith et al., 1999].
This analysis focused on the role of social support (as a resource) in moderating the effects of positive genetic test results for a BRCA1 mutation (as a stressor) on psychological distress. Thoits [1995] defined social support as a fund from which people may draw. In this definition, social support usually refers to the functions performed for the individual by significant others, such as family members, friends, and coworkers. Wethington and Kessler [1986] note, however, that it may not be so much that those functions are actually performed for the stressed person as that the social fund is perceived to be available to be drawn on by that person.
In discussing the role of social support, Thoits [1995] notes that “the simplest and most powerful measure of social support appears to be whether a person has an intimate, confiding relationship. … Having a confidant significantly reduces the effects of stress experiences on both physical and psychological outcomes.” Among all possible sources of social support, spouses are generally considered to be individuals' single most important sources of support [Wethington and Kessler, 1986; Thoits, 1995; Beach et al., 1996].
Yet, by virtue of being close to the stressed person, a supporter often participates in the stressful situation directly. In the case of genetic testing, when the support person is also the spouse of the tested person, he or she is also affected by the stressor beyond the effect on the tested (stressed) person [Kash, 1995]. For example, the husband of a carrier wife will not be genetically affected as she may, but his children could be as a result of inheriting an excess risk from their mother. That is, the effect of his wife's test results on him are not limited to his role as her support person but may also extend to his role as father of their children. In sum, we hypothesize that spouses are also directly affected by the stressor (vis-à-vis children) and this impact may have an important effect on how the tested person copes with the effects of testing [Marteau and Croyle, 1998].
Previous analyses suggest that the adverse psychological consequences of positive genetic test results for cancer susceptibility are modest at best [Coyne et al., 2000]. There are data, however, that indicate that some individuals may be more prone to negative sequelae [Croyle et al., 1997; West, 1997; Smith et al., 1999].
Previous analyses suggest that the adverse psychological consequences of positive genetic test results for cancer susceptibility are modest at best. There are data, however, that indicate that some individuals may be more prone to negative sequelae
. Accordingly, current research in this area has begun to focus on identifying subgroups within those populations eligible for testing that may be at greater risk for negative psychological consequences.
Most studies have found that although adverse consequences of genetic testing are not as large as originally feared, a positive relationship between carrier status and psychological outcome exists, with carriers having more postresult distress than noncarriers. Given the potential health consequences for women, it is not surprising that female carriers show greater distress than male carriers. One recent study found that high pretest anxiety in mutation carriers was associated with high anxiety at posttest [Lodder et al., 2001]. Manne et al. [2001] found that nonsupportive spouses exacerbate the psychological consequences for female carriers [Manne et al., 2001]. Vernon et al. [1997] found that increased anxiety was associated with less formal education, fewer social contacts, and less satisfaction with them.
Despite fears about the potential negative psychological effects of genetic test results and the acknowledged role of social support as a coping resource for individuals undergoing stress [Thoits, 1995], little attention has been paid to the role of spouses in the genetic testing context. Since there are few data yet about the specific effects of spousal support on a person tested for a BRCA1 mutation, we turn to extant research on the role of spouses in cancer adjustment. In discussing the effects of spousal support on cancer patients' adjustment to disease and treatment, Manne and Glassman [2000] point out that “the relationship between the cancer patient and his or her spouse appears to be a particularly important determinant of the patient's psychological adjustment.” In a study of the effects of spousal support on adjustment to breast cancer, Bolger et al. [1996] found that psychological support eroded over time and did not alleviate distress. Indeed, they found that support was withdrawn in response to emotional distress, while it was provided in response to physical impairment. Others have found that husbands have a major influence on the wellbeing of women at high risk for breast and ovarian cancer [Pistrang and Barker, 1995; Coyne and Anderson, 1999].
Social support is acknowledged as a factor in psychological outcomes of cancer genetic testing [Baum et al., 1997] and, as noted above, Vernon et al. [1997] found that social support was inversely related to depression and anxiety postresults. To date, the only study that examines the role of spouses in an individual's ability to cope with the results of genetic testing is Manne et al. [2001]. They found spouse support and encouragement to be consistently inversely associated with participant distress, although their sample was a mixture of presymptomatic women and women already diagnosed with cancer.
The implications of spouses for genetic testing for a BRCA1 mutation are profound [Richards, 1998]. The spouse of a tested person is in a significantly different position from the spouse of the person with cancer: at the time of testing, most tested persons have no physical impairment (and may never have). Psychological (emotional) distress of the tested person is, however, a real possibility for the spouse at that time. Male carriers are not at risk of breast or ovarian cancer, but can transmit the risk to their daughters, as can female carriers. Thus, test results have the potential to create anxiety not only in the tested person, but in male and female spouses as well due to concerns for their children. This direct participation in the stress situation by both the tested person and spouse may alter the tested person's support system as well as perceptions of support availability, or both.
In an effort to identify specific spousal characteristics that may predict elevated test-related distress among mutation carriers, this study examined the relationship of the tested person's perceptions of spousal anxiety and support at the time of testing to the tested person's distress over a 2-year time period following the receipt of test results. Our primary hypothesis is that tested persons who are mutation carriers and who perceived their spouses to be unsupportive and anxious will have higher levels of posttest distress than carriers whose spouses were perceived as supportive or not anxious.
Our primary hypothesis is that tested persons who are mutation carriers and who perceived their spouses to be unsupportive and anxious will have higher levels of posttest distress than carriers whose spouses were perceived as supportive or not anxious.
MATERIALS AND METHODS
Sample and Procedures
Data were gathered during a study of the behavioral and psychosocial effects of testing for a BRCA1 mutation in a single extended kindred [Botkin et al., 1996]. Members of the kindred (K2082) are primarily Caucasian and of North European descent. The majority live in Utah and are members of the Church of Jesus Christ of Latter-day Saints (Mormon). Excluded from the study were individuals under 18, those not competent to give consent, and those living too far from the University of Utah to attend the two genetic counseling sessions. Because of a top-down (within a family pedigree), rolling recruitment of subjects, some potential subjects who were known not to be at risk of carrying the mutation due to knowledge of their parent's or grandparent's test results were not invited into the study. However, some subjects whose parent/grandparent was found to be a noncarrier were recruited into the study prior to that information being available. The study protocol was approved by the University of Utah Institutional Review Board.
Complete details of the study protocol for contact and consent are presented elsewhere [Botkin et al., 1996] and thus are only briefly reviewed here. Initial contact letters were sent to 759 individual members of the kindred; 408 completed a baseline interview. Of those, 296 had genetic counseling and 269 were tested. The results were 89 carriers, 154 noncarriers, and 16 people who did not receive their results. Those who received their results from a genetic counselor were interviewed 1 to 2 weeks postresults. (Some individuals had blood drawn for testing, but found out that their parent was negative and chose not to return for results. Interviews were conducted with those individuals 1 to 2 weeks after receipt of their parent's information when possible.) All subjects were interviewed 4 months, 1 year, and 2 years after results (or after the baseline interview for those individuals who did not have testing).
Our analysis was based first on 203 married individuals who completed the baseline, 1-year, and 2-year follow-up interview. Our analyses focused on 57 married carriers who fit these criteria. Most but not all of this sample also completed the 1-week interview. Subjects who learned their genetic status by virtue of their parent's or grandparent's negative carrier status did not participate in the 1-week interview.
Measures
Table I shows the measures that were used and at which point in the study they were administered. We thus test our hypotheses regarding the effects of perceived spousal support and anxiety on distress of all married tested persons, where we rely on data provided by the person tested.
| All married tested persons (n = 203) | |||||
|---|---|---|---|---|---|
| Baseline | 1 week | 4 months | 1 year | 2 years | |
| Dependent variable | |||||
| IES | X | X | X | X | |
| Independent variables | |||||
| Age | X | ||||
| Sex | X | ||||
| Education | X | X | X | ||
| Number of children | X | ||||
| BRCA1 mutation status | X | X | X | X | |
| Anxiety of spouse before results | X | ||||
| Anxiety of spouse after results | X | ||||
| Support of spouse before results | X | ||||
| Support of spouse after results | X | ||||
Dependent variable
Distress related to testing was measured by the Impact of Events Scale (IES) [Horowitz et al., 1979]. The IES is a 15-item scale that measures event-specific distress. The IES was chosen for this study for its established reliability; it has been used extensively in many domains of the social sciences, including genetic testing for late-onset diseases [Lerman et al., 1995, 1997; Tibben et al., 1997; DudokdeWit et al., 1998a,b; Lodder et al., 2001]. It was measured at all postresults interviews. The Cronbach alpha at 2 years was 0.903.
Independent variables
Carrier status
DNA testing was done by the DNA Diagnostic Laboratory at the University of Utah using blood samples provided by the subjects at the first genetic counseling session [Botkin et al., 1996]. Results were provided to the project, and the subject was provided the results in the second genetic counseling session. It was possible, however, for some subjects to learn that they were not carriers by virtue of their parent's (or grandparent's) carrier status being found to be negative. In this case, some subjects opted not to have both genetic counseling sessions, or just the results session. In follow-up interviews, subjects were asked a series of questions to determine their knowledge of their mutation status. (Subject's genetic test results were returned to the project in a sealed envelope. Those envelopes were only opened immediately prior to being given to the genetic counselor in preparation for the results session. The counselors had asked to be advised of any inconclusive results before the results session. No record was kept of the results until the counselor reported them back to the project staff after the results session. Therefore, the results of those subjects who did not return for a results session are still unknown to project staff.) Thus, although DNA test results that had been provided to subjects were available to project staff, all analyses are based on the subject's perception of his or her genetic status (or of the genetic status of the spouse). The subject and project versions of results were divergent in only one case.
Spousal anxiety/distress
Perceptions of spouse anxiety were measured by two seven-point Likert scale questions asked at the 1-week postresults interview: “On a scale from 1 to 7, how anxious was your (husband/wife) between the time you were tested and when you learned your results, where 1 is not very anxious and 7 is very anxious?” and “On a scale from 1 to 7, how anxious was your (husband/wife) between the time you learned your results and now, where 1 is not very anxious and 7 is very anxious?” These two time periods will be referred to as the before-results and the after-results. Our analyses take advantage of both sets of data, but focus on the after-results, as assessed at the 1-week postresults interview.
Similar to the questions for perceived spousal anxiety, perceived spousal support was assessed with two seven-point Likert scale questions: “On a scale from 1 to 7, how supportive was your (husband/wife) between the time you were tested and when you learned your results, where 1 is not very supportive and 7 is very supportive?” and “On a scale from 1 to 7, how supportive was your (husband/wife) between the time you learned your results and now, where 1 is not very supportive and 7 is very supportive?” As above, our analyses focus on the after-results.
Family cancer history
Subjects were asked about the number of first- and second-degree female relatives they had who had had breast and/or ovarian cancer. Others have reported that awareness of risk may affect the tested person's distress subsequent to testing [Baum et al., 1997; Marteau and Croyle, 1998]. We considered this measure in our analyses to control for the chance that the effect of spousal anxiety and support on distress in mutation carriers may be confounded by family cancer history.
Demographic variables
These variables included age (in years), gender, number of children, and education (in years). Age was considered in the analysis because the disease, while occurring as early as the late 20s in this family, is more likely to appear after 40; accordingly, distress related to being a carrier may be associated with age. Age is also associated with perceptions of and satisfaction with one's spouse. Gender was incorporated into the model due to the different health effects for women versus men and differences by gender of psychological distress. Children were considered due to their potential role in spousal responses to test results. Education was considered given that less formal education may be associated with higher scores on depression measures among persons undergoing genetic testing [Vernon et al., 1997]. Education is also positively associated with marriage and spouse satisfaction.
Analyses
Statistical Analysis Systems (SAS) software was used for all statistical analyses. Sex and carrier status (carrier or noncarrier) were used as dichotomous variables while education, age, and family cancer history were analyzed as continuous variables.
Perceived spousal support and anxiety were evaluated as direct (main) effects and then in combination with each other (interaction effects). Given that the distributions for perceived spousal anxiety and support variables were skewed toward extremes of the scale (i.e., little anxiety and ample support), we categorized these two variables into high/low dummy variables. When perceived anxiety is 3 or higher (1 is lowest and 7 highest), it was labeled high and all others were labeled low. When perceived support equals 7 (1 is lowest and 7 highest), it was designated as high and all others were labeled low. Forty-three percent of the subjects reported spouse anxiety as 3 or higher (high), and 49% reported spouse support as 6 or lower (low).
Finally, we created a spouse response profile that grouped persons into one of four categories derived from the combination of high and low perceived spousal anxiety and support. These four categories are defined in Table II.
| Perceived anxiety | Spouse response profile typology | n | |
|---|---|---|---|
| Perceived support | Descriptive label | ||
| High | Low | “Burdensome” | 9 |
| Low | Low | “Detached” | 16 |
| High | High | “Involved” | 16 |
| Low | High | “Supportive” | 16 |
We hypothesized that the “burdensome” spouse would be associated with the highest levels of distress in the tested person, whereas the “supportive” spouse would be associated with the lowest levels of posttest distress. The other two groups are predicted to have intermediate levels of distress. In the results, we compare the first three groups with the “supportive” group.
Ordinary least squares linear (OLS) regressions were used to assess the effects of the independent variables on distress, as measured by the IES. Due to the relatively small sample size, special care was taken to keep the model as parsimonious as possible. Preliminary analyses (not shown) indicated that age, education, children, and family cancer history did not show any effects and were thus removed from the model. Gender was an important predictor and was retained in all models. Finally, in order to determine how stable the results were over time, all analyses were run using the IES of the tested person on all four postresults questionnaires, at 1 week, 4 months, 1 year, and 2 years posttesting.
Several sets of siblings and a few parent-child clusters are represented in the sample. This raises a question about the possible dependence in responses among relatives. We took into account these dependencies by reestimating our regression models using generalized estimating equations (GEE) [Zeger and Liang, 1986]. Our results based on the GEE approach were nearly identical to those using the OLS regression approach. Accordingly, we report results based on the OLS estimates.
Four basic linear regression models were estimated to predict distress levels among married persons who were tested. Table III summarizes the specification of these linear regression models, which vary by the manner in which the spouse perception variables are included. Model 1 estimated main and interaction effects of support and anxiety on distress. Model 2 includes the main effects of support and anxiety and their interaction with gender. Model 3 includes gender and the spouse response profile dummies, and model 4 adds their interaction terms. For the main effects, we include the predicted association with test-related distress in Table III.
| Independent variables | Model 1 | Model 2 | Model 3 | Model 4 |
|---|---|---|---|---|
| Main effects | ||||
| Gender (male) | X | X | X | X |
| High/low perceived spouse support | X | X | ||
| High/low perceived spouse anxiety | X | X | ||
| Spouse response profile | ||||
| High anxiety, low support (“burdensome”) | X | X | ||
| High anxiety, high support (“involved”) | X | X | ||
| Low anxiety, low support (“detached”) | X | X | ||
| Low anxiety, high support (“supportive”), omitted group | ||||
| Interactions | ||||
| Spouse support × spouse anxiety | X | |||
| Spouse support × gender (male) | X | |||
| Spouse anxiety × gender (male) | X | |||
| Spouse response profile | ||||
| Burdensome × gender (male) | X | |||
| Involved × gender (male) | X | |||
| Detached × gender (male) | X | |||
RESULTS
Table IV shows the means, standard deviations (SD), and ranges for all variables used in the analyses according to each interview. The combined sample of married carriers and noncarriers (n = 203) was 60% female, with a mean age of 45.27 (range, 20–77) and an average of slightly more than 2 years of post-high school education. Twenty eight per cent of the sample of married tested persons (n = 57 of 203) were mutation carriers; it is these carriers that are the focus of our analyses. The mean number of children per tested person was almost four. Persons in the sample had an average of 1.55 first- and/or second-degree female relatives with breast and/or ovarian cancer.
| Total (n = 203) | All carriers (n = 57) | All noncarriers (n = 146) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variables | Mean | SD | Minimum | Maximum | Mean | SD | Minimum | Maximum | Mean | SD | Minimum | Maximum |
| Male | 0.40 | 0.50 | 0 | 1 | 0.39 | 0.49 | 0 | 1 | 0.41 | 0.49 | 0 | 1 |
| Age | 45.27 | 13.67 | 20 | 77 | 43.04 | 13.56 | 25 | 76 | 46.14 | 13.66 | 20 | 77 |
| Education (years) | 14.16 | 1.92 | 7 | 18 | 13.91 | 1.69 | 12 | 18 | 14.25 | 2 | 7 | 18 |
| Number of children | 3.96 | 2.20 | 0 | 9 | 3.68 | 2.09 | 0 | 9 | 4.06 | 2.24 | 0 | 9 |
| IES1 week | 10.0 | 10.54 | 0 | 51 | 13.98 | 12.36 | 0 | 51 | 7.98 | 8.90 | 0 | 45 |
| IES4 months | 7.64 | 9.56 | 0 | 40 | 12.21 | 11.22 | 0 | 40 | 5.79 | 8.14 | 0 | 40 |
| IES1 year | 8.94 | 9.70 | 0 | 49 | 13.11 | 10.82 | 0 | 45 | 7.26 | 8.69 | 0 | 49 |
| IES2 years | 7.23 | 9.22 | 0 | 40 | 11.16 | 10.64 | 0 | 37 | 5.69 | 7.97 | 0 | 40 |
| Number of female relatives with cancer | 1.55 | 1.31 | 0 | 7 | 1.82 | 1.24 | 0 | 5 | 1.44 | 1.32 | 0 | 7 |
| Perceived spouse anxiety immediately after results | 1.73 | 1.26 | 1 | 7 | 2.54 | 1.52 | 1 | 6 | 1.31 | 0.84 | 1 | 7 |
| Perceived spouse support immediately after results | 6.25 | 1.33 | 1 | 7 | 6.12 | 1.25 | 3 | 7 | 6.32 | 1.37 | 1 | 7 |
Results of the first regression model, for married carriers who reported their perceptions of their spouses' anxiety and support in the period between receiving their results and the 1-week interview (after-results), were as hypothesized. The effects of perceived spouse anxiety are in the direction predicted: higher perceived spousal anxiety significantly leads to higher distress of the tested person (P < 0.023 at all time points). High perceived support also shows the predicted inverse relationship with distress of the tested person (P < 0.05 for all time points).
The effects of perceived spouse anxiety are in the direction predicted: higher perceived spousal anxiety significantly leads to higher distress of the tested person. High perceived support also shows the predicted inverse relationship with distress of the tested person.
The interaction term is not significant at any measurement point.
An examination of the spouse response profile (Fig. 1) is revealing. The effect size of the high-anxiety/low-support group (“burdensome”) is quite large relative to the low-anxiety/high-support group (“supportive”) at all four time points and exceeds the mean IES scores of individuals recently diagnosed with cancer [Epping-Jordan et al., 1994]. The differences between the other two groups (high-anxiety/high-support or “involved” and low-anxiety/low-support or “detached”), relative to the “supportive” group, are generally significant at P < 0.05, although they do not reach the level of distress associated with a recent diagnosis of cancer.
Mean IES scores by spouse profile and time. Light-gray bar, 1 week; dark-gray bar, 4 months; white bar, 1 year; black bar, 2 years.
The interaction between gender and perceived spouse anxiety is significant for all four time points (P < 0.07). In general, carrier women with anxious husbands experience more distress than carrier men with anxious wives. The spouse response profile shows that the distress differences between the women who perceive their spouses as high anxiety/low support (“burdensome”) and women who perceive their sspouses as low anxiety/high support (“supportive,” the omitted group) are significant (P < 0.001) at the 1-week interview (25.4 vs. 4.0) and remain so at the 2-year measurement period (32.8 vs. 6.5). A similar pattern is detected for males but the differences are attenuated relative to those reported for women. The other two groups of women (those with “detached” or “involved” husbands) show smaller effect sizes over time.
Figure 2 shows the differences in mean IES scores for men and women over the study period. With the exception of those with “supportive” spouses, none of the mean scores for the male grouping reach even the lowest mean score for the groups for women. Furthermore, the IES scores of women who perceive their spouses to be anxious and unsupportive generally increase over the 2 years. Scores for the other women, as well as for all the male groups, generally decline over time.
Mean IES scores by spouse profile and gender. Light-gray bar, 1 week; dark-gray bar, 4 months; white bar, 1 year; black bar, 2 years.
Most importantly, scores for women in “burdensome” couples, at all four time points, exceed the mean IES scores of individuals recently diagnosed with cancer [Epping-Jordan et al., 1994]. Epping-Jordan et al. [1994] used the IES to measure distress approximately 10 weeks after cancer diagnosis; the mean IES score for their sample was 22.92. The women who perceive their spouses to be highly anxious and nonsupportive exceed this threshold at every measurement point; at the 1-year mark, they exceed it by 50%.
It is possible that what has been assessed by the tested person's perception at the 1-week interview of the anxiety/support of a spouse is merely a reflection of the tested person's own anxiety about the results. We were able to address this possibility with two further analyses (results not shown). First, we analyzed the tested person's perception of his or her spouse's anxiety/support in the time before results were available (i.e., after blood draw but before the results had been received). The one important difference is that the effect sizes of the before-result assessment by the tested person are smaller than those associated with their assessment of spousal anxiety/support after-results. The fact that the tested person's assessment of his or her spouse's support at the two time periods yields different effects lends credence to the prediction that it is indeed the perception of spousal anxiety/support that is having the effect. If the tested persons' own response to the test results colored their perception of their spouses, then this should have made their views of their spouses similar, not different.
Our appraisal that it is indeed the effects of perception that we are measuring is further born out by regressions that added the tested person's distress, measured by the IES at 1 week, to a model predicting distress at 2 years postresults. If perceptions of spouses' responses were just indirect measures of the tested person's own distress, the effects of perceived spousal anxiety and support would be greatly diminished, if not eliminated, by the addition of the IES at 1 week. We find that the effect of having a “burdensome” spouse continues to elevate the distress level of the tested person. This suggests that perceptions of spousal anxiety and support are imparting an influence on posttest distress levels distinct from the tested person's own distress level.
DISCUSSION
In this analysis, we tested the effects of BRCA1 mutation carriers' perceptions of their spouse's supportiveness on the carrier's long-term distress. We predicted that tested persons who perceived their spouses to be anxious would themselves have greater distress levels than those who did not perceive their spouses as anxious. We also predicted that perceptions of spousal support would have the opposite effect: higher perceived spousal support would be associated with lower levels of distress experienced by carriers. Our analyses are consistent with these predictions. Moreover, the effect of these perceptions is long-term and relatively stable; perceptions of spousal anxiety and support are predictive of the tested person's distress levels at every time point up to 2 years posttesting.
Stress theory predicts that the effects on a person of a stressful situation will be buffered by the presence of a spouse. However, this study is concerned with variations in supportiveness of spouses within marriages.
Stress theory predicts that the effects on a person of a stressful situation will be buffered by the presence of a spouse. However, this study is concerned with variations in supportiveness of spouses within marriages.
Furthermore, spouses in the genetic testing context are not in the same situation as spouses in other stressful circumstances; they are directly involved in the stress itself by virtue of the potential heritability of the mutation by their children. As Kash [1995] has pointed out, in genetic testing, spouses' participation is more than that of supporter. Our results indicate that the tested person's perception of the impact of the genetic test results directly on the spouse does indeed have an effect on the spouse's utility as support giver.
One of the goals of this analysis was to try to identify subgroups within the testing population who might be at increased risk of posttesting distress. Once the fact that the effects of perceived spousal support and anxiety are predictive of the tested persons' distress levels had been established, we proceeded to examine combinations of those factors that might identify those spouse characteristics that might elevate the level of adverse psychological outcomes. Using the possible combinations of high/low perceived anxiety and high/low perceived support, a spouse response profile was created to define four subgroups. The prediction that the effect of perceived high anxiety/low support (i.e., the “burdensome” spouse) would be associated with the greatest level of posttesting distress, compared to low-anxiety/high-support (“supportive”) spouses, was supported by the analyses.
The means for carriers in the low-anxiety/high-support (“supportive”) group are considerably lower than any of the other three groups and are roughly comparable to the means of similar tested persons who are noncarriers (data not shown). We conclude that those carriers who perceive their spouses to have low anxiety and are supportive are roughly equal in distress, 2 years posttesting, to noncarriers. These findings are suggested by stress theory: the perception that one is supported by one's spouse buffers the effects of the stressor [Thoits, 1982, 1995; Wethington and Kessler, 1986; Beach et al., 1996].
Two results stand out for the high-anxiety/low-support (“burdensome”) group. First, the means at the 1- and 2-year postresults interviews are comparable to those reported by Epping-Jordan et al. [1994] in their interviews of cancer patients 10 weeks after diagnosis. The mean IES score for that sample was 22.92. The adverse effect of being a carrier with a “burdensome” spouse is both significant and enduring. These carriers respond 2 years after genetic testing results as if they had recently received a diagnosis of cancer.
Second, the means for women in this group at all four posttesting interviews conspicuously exceed those reported by Epping-Jordan et al. [1994]. Women's distress not only endures over the 2-year study, it actually increases.
It is important not to underestimate the effect of positive carrier status on men. The lower levels of distress posttesting reported by men with “burdensome” wives may only reflect the cultural fact that men generally report lower levels of psychological distress than women. Tested husbands have wives who may themselves be adversely affected through their children. When asked if anyone had had a particularly negative response to test results, two kindred members mentioned wives of carrier men. One noted, “My sister-in-law has had a terrible [time]. … I think she blames her husband for having it.”
Furthermore, examination of wives' responses to questions about whether or not having the information about their husband's status was positive or negative yields comments such as “I received this information … 2 years ago. I had a pretty new baby girl and [it] was upsetting for me to look at her and wonder if cancer is going to kill her before her life's in full bloom.” Interestingly, though, anxious wives of carrier men did not appear to elevate distress levels among these men. Since previous research on the psychosocial effects of being tested for BRCA1 mutations has focused almost exclusively on women as the tested person, the effects on males remain an important area of future research.
These findings have important implications for future genetic testing. We show that the tested person's perceptions of his or her spouse's responses may have potent and persistent effects on the response to testing. The data indicate that clinicians should consider the patient's relationship with their spouse in order to anticipate potential problems and provide more effective support for individuals who undergo genetic testing. At the least, our results support the current research practice of encouraging spouses to be involved in the genetic education process prior to the decision to be tested. Effective clinical management of genetic testing of married individuals may depend on recommendations for suitable interventions when necessary. Since the results are limited to the tested person's perception of his or her spouse's response, interventions that affect each member of the pair's ability to communicate and effectively interpret what is communicated may be most useful in reducing postresults distress over time. Thus, health care practitioners providing genetic information about susceptibility to late-onset disease to married individuals should be aware that the information they are providing has direct effects on both members of the pair, which may affect the spouse's ability to act as support person to the tested individual.
Care must be taken when extrapolating these findings to clinical practice. The size of the subgroups is small enough to require caution in interpretation. Also, our analyses are based on the tested person's perceptions of his or her spouse's anxiety or support, or both. It is unknown if the tested person's perceptions are consistent with actual spousal anxiety and support.
The sample in this analysis is largely made up of members of the Church of Jesus Christ of Latter-day Saints (Mormons). Religious characteristics may make this sample somewhat different from other populations, though the potential support available to members of this church suggests that our results are conservative. Also, the subjects had extensive genetic counseling prior to testing as well as after learning their genetic test results, which may not be available in future nonresearch settings.
The effects of cancer family history may limit the utility of studies addressing the psychosocial effects of genetic testing. Although we cannot rule out the possibility that individuals whose families have more cancer than is the norm (and who generally form the basis for research studies of the psychosocial sequelae of genetic testing) have differing responses, we did not find that having first- or second-degree female relatives with breast and/or ovarian cancer affected the responses of subjects in this analysis.
There have been few reports of the effects of spouses on the responses of individuals to genetic testing. Lodder et al. [2001] report that spouses of carriers have higher posttest anxiety than spouses of noncarriers, but no interaction of that anxiety with distress of the tested person is indicated. The data of Manne et al. [2001] indicate that women who test positive for the mutation and who have supportive spouses fare better than those who do not have supportive spouses. Both of these studies were limited to women tested for the mutation and their husbands. In addition, that analysis was based on a sample with a larger proportion of women who had already had cancer, unlike this sample.
A significant strength of this analysis is that it examines both males and females. The effects of positive mutation status are not limited solely to women, since male carriers may also pass the mutation to their children. Thus, although the effect on women is demonstrably greater than on men, it is not limited to women. As our analysis shows, male carriers who perceive their spouses to be anxious and nonsupportive at the time of testing may be distressed by their results up to 2 years posttesting. Focusing clinical intervention on females may deprive male carriers of much needed intercession and support. The differences between males' and females' responses to genetic testing should be elucidated by further study.
In conclusion, we have been able to identify a subset of carriers who are at risk for clinically elevated distress levels up to 2 years posttesting. Our results suggest that women with “burdensome” spouses in particular may be at risk for elevated levels of distress that grow with time. Such information may allow greater focus of genetic counseling on the spouse of the potential tested person than has been the case to date.
We note that we have not yet looked at the effect of testing on spouses. The concordance between actual and perceived effects of testing on spouses may assist clinicians in management of the effects of genetic testing. Additionally, given the rise in single-parent families, more attention may need to be paid to children as possible support givers. They, like spouses, have dual roles in this situation.
Given the rise in single-parent families, more attention may need to be paid to children as possible support givers. They, like spouses, have dual roles in this situation.
However, since children are potentially directly affected by their parent's genetic status, their relationship may be more complex. Truly effective interventions to minimize test-related distress will require further investigation and understanding of the complex psychosocial dynamics of genetic testing for late-onset disorders.
Acknowledgements
The authors thank Cathleen Zick for her insightful comments when the project was being formulated.
