The quantitative design allowed us to identify new and unexpected themes while building on established concepts, and to provide nuance, complexity, and context [Beeson, 1997
; Hull et al., 2001
]. Themes developed from this study have implications for clinical care related to education and counseling about familial risk.
The perception of family vulnerability in this study is consistent with a framework developed by Walter and colleagues [Walter et al., 2004
]. Using a meta-ethnographic approach, the researchers reviewed studies exploring understanding about family risk in various complex disorders. The resulting theoretical framework informs how individuals with familial risk develop and manage their sense of vulnerability. The framework includes three key constructs, salience (that is, worthiness of attention, e.g., acknowledgement that the disorder runs in the family), personalizing processes (applying personal models of inheritance and disease causation, e.g., explanations about why the disorder runs in the family), and a personal sense of vulnerability (i.e., sense of personal and family risk). The constructs are fluid and interdependent, and lead to coping and control efforts. The consistency of our results with the framework suggests that the process leading to perceived family vulnerability in our BPD population resembles that of other populations with complex disorders, and that interventions developed around family vulnerability in common disease may be useful across sub-specialty.
Comparing our results to existing psychiatric literature, as in other studies our participants perceived BPD to be burdensome to affected individuals and relatives [Schulz et al., 1982
; Smith et al., 1996
] and to be caused by genetic and environmental risk factors [Meiser et al., 2007
; Meiser et al., 2005
; Schulz et al., 1982
; Targum et al., 1981
]. Using a qualitative design allowed us to capture uncertainty about causal attributions; though participants were able to describe attributions readily, they often were not confident about those they put forward. For some participants, reported causal attributions varied during the interview, suggesting the attributions may be weakly held and dynamic. This invites an opportunity for providers to explore and clarify patient perceptions of etiology.
Most participants perceived an increased risk to close relatives. Affected individuals reported risk to family members to be quite high, consistent with other studies [Austin et al., 2006
; Lyus 2007
], while siblings reported a wider range of risks. As our population primarily included families with more than one affected relative, the increased risk perception may have some credibility.
Participants identified a strong sense of family and personal vulnerability originating from the familial nature (i.e., genetic and family environmental factors) of BPD. The diagnostic label’s strong effect on affected participants’ perceptions was unexpected, especially because many reported multi-generational mood issues and a long course of illness. The diagnostic label likely increased participants’ mental association between their own symptoms and their family histories, thus increasing their overall perception of family vulnerability. Siblings appreciated the saliency of their family histories at younger ages than did affected individuals, resulting in stronger than anticipated effects on their personal sense of vulnerability.
Most participants with children were not concerned about recurrence risk before reproduction. The reasons for lack of concern differed between the study groups. The majority of affected individuals reported not being aware of the risk. The majority of siblings reported some awareness of risk but little or no concern. Similarly, Meiser and colleagues found that many individuals with BPD were not aware of the risk, though their participants were from high-density families [Meiser et al., 2005
]. One can surmise that individuals with strong family histories might have awareness of risk to relatives even without a personal diagnosis, as noted in the sibling population in this study. For most parent participants, the desire to have children likely trumped perceived risk. Studies evaluating reproductive decision making in populations with known genetic risk suggest a similar denial of risk in those who strongly desire children [Shiloh and Saxe, 1989
]. The framework developed by Walter and colleagues [Walter et al., 2004
] suggests another conclusion, positing that perceptions of control play into salience (i.e., increased attention to outcomes perceived as controllable). Prospective parents likely perceive little control over the risk for BPD in children, particularly during pregnancy and infancy, which in turn may reduce their perceived saliency of their family history.
Participants indicated concern about and monitoring of children, a robust theme that has not been explored previously. Study participants indicated two strong but conflicting positions—a desire to end the cycle of illness in the family, and limited perceived control over risk to young relatives. Though participants expressed little faith in their efforts to ward off illness by improving child rearing, family communication, and environment, the efforts provided participants a sense of control over risk, and represented active attempts to protect their children’s health. These efforts at control may explain why the saliency of the family history remains high when related to children.
Participants expressed interest in genetic counseling, including a desire to better understand the cause despite having a reasonable understanding of common disease etiology. Patients are likely to look to their own families when developing causal attributions, and providers can similarly use patients’ family histories to educate about etiology. On the whole, participants were more interested in general information and counseling than quantified risk assessment based on family history, which was viewed as having benefits and limitations. Our findings suggest that patients may be most eager to discuss family risk following a BPD diagnosis and when concerns for children arise. Siblings may benefit from counseling around their own risk and about early illness symptoms.
As part of any intervention about family risk, participants advocated for psychological support related to living with risk in the family. Providers should include a strong focus on psychological issues during their genetic counseling sessions and should consider referral for more in-depth counseling. The context and purpose of etiology and risk counseling was important to participants, supporting the practice of having clients set the agenda for a genetic counseling session.
While genetic counseling may appeal to some patients who are considering reproduction, one cannot assume that patients will make reproductive choices based on psychiatric history. This may be because the desire to have children and a limited perception of control over risk decrease the saliency of perceived risk.
Patients and relatives may benefit from discussions about concerns for young children, their ability to provide a healthy home environment, and interventions based on early illness symptoms. Parents are likely to benefit from counseling around their limited control over illness onset in children. Though there are few data to support recommendations for affected individuals, providers may encourage parenting education [Craig, 2004
], parental support systems and outside daycare [Lee et al., 2006
], and family-based interventions [Beardslee et al., 2003
] as ways to attempt to reduce risk in children. Providers should stress the importance of early symptom identification and early treatment, and should empower affected individuals by reinforcing that their illness experience likely has made them more capable of noticing and responding to early symptoms.
Participants commonly used monitoring and cognitive distancing to cope with family vulnerability and limited control. Those who favor monitoring might most benefit from counseling around early symptom identification and risk reduction. Cognitive distancing, on the other hand, may decrease an individual’s interest in genetic counseling and may interfere with the cognitive and emotional processing of information provided during the session.
This study reveals important new themes and provides direction for professionals who counsel about family risk for BPD. In spite of its strengths, the study is limited in that it is a self-selected group. Participants were recruited from the NAMI and ClinicalTrials.gov websites, suggesting more knowledge about psychiatric illness than expected from the average affected individual or sibling. Participants may have been coping more successfully than average, because participation required organized thought and effort. Responses were subject to recall bias, and the use of hypothetical vignettes was likely imperfect in predicting responses in an actual situation. It is possible that participants’ mood at the time of the interview (i.e., whether participants were in a depressed, hypomanic, or manic state) may have affected their perceptions of risk and outlook for the future.
Our recruitment efforts did not capture a broad range in terms of family history; almost all participants had more than one affected family member. This is not surprising given the increased saliency of the subject matter for individuals with more affected family members, and is perhaps reflective of individuals who will seek genetic counseling related to psychiatric illness. Since half of the siblings had concerns about their own mental health, we presume this bias may have generated motivation to participate in the study.