Behavioral Changes after Psychiatric Genetic Counseling: An Exploratory Study

It is estimated that 1 in 5 people will experience psychiatric illness [1, 2]. Psychiatric disorders are caused by a complex interaction of biological, psychosocial, economic, and genetic factors [3, 4]. Lifestyle modifications such as physical exercise, good nutrition, and uptake of medical interventions such as prescribed medication and/or therapy are well-established protective factors that can help reduce the risks for illness onset or relapse [5‒9].

Genetic risk information has been presented as a promising public health tool to motivate changes in behavior that will protect individuals’ mental health [10]. However, many studies have shown that only providing patients with information on genetic health risks (usually in the form of a genetic test result) may not influence behavior [11‒13]. For example, randomized control trials examining the effect of genetic risk communication for type II diabetes, obesity, and smoking cessation failed to produce any long-term behavioral changes resulting in significant clinical outcome [14‒17]. Additionally, studies examining genotype-driven personalized nutrition information found no increase in healthy eating behaviors based on solely providing genetic-based information [18]. More recent studies have examined the impact of communicating polygenic risk scores for a variety of multifactorial disease and have found mixed results in terms of behavior change [19]. Importantly, genetic counseling – which encompasses counseling and support in addition to the information provision that was provided in these studies – has been hypothesized to be an effective strategy to elicit meaningful behavior change to reduce the risk for common complex diseases [12]. For example, studies of providing genetic risk information in the context of genetic counseling about Alzheimer’s disease have found some evidence to suggest that it may influence diet and exercise habits for some individuals [20].

While genetic counseling encompasses a risk communication component, it should extend beyond this information to provide personalized psychotherapeutic support counseling that may more effectively influence behavior [21]. It has been shown that genetic counseling, under these conditions, leads to an increased sense of perceived personal control and greater intention of engaging in positive health behaviors [22, 23].

In the context of psychiatric disorders, previous work has demonstrated that patients have increased levels of empowerment and self-efficacy after psychiatric genetic counseling (PGC) [24] and a reduction in psychiatric symptoms [25]. Conceptually, as empowerment and self-efficacy are necessary for behavior change, these outcomes further suggest that PGC has the potential to influence behavior, but few studies have yet to examine these outcomes. Therefore, we aimed to explore the perceptions of recipients of PGC with respect to if and how PGC led them to adopt any behavior modifications and the nature of these modifications.

We conducted an exploratory qualitative, semi-structured interview-based study with individuals who had received PGC in relation to their lived experience of mental illness to gather insights into participants’ perceptions of its impact on their behavior.

We recruited participants from the Adapt Clinic in Vancouver, Canada, which specializes in providing genetic counseling for psychiatric disorders. The clinic and its genetic counseling content and process are described in detail elsewhere, but briefly (to address reporting standards for genetic counseling outcomes research [26]), PGC is provided by board-certified genetic counselors, and patients do not pay out of pocket as services are covered by British Columbia’s Medical Services Plan. Session content focuses on helping the patient make personal meaning from what we understand from research about the factors that contribute to the development of psychiatric illness. Family history is typically collected via phone prior to a 1- to 1.5-h appointment (in person or via telehealth), which incorporates what is currently known about the etiology of psychiatric disorders with patients’ existing explanation of their illness and personal history. Genetic counselors also discuss protective factors and coping strategies (i.e., regular exercise, good nutrition, sleep, adherence to prescribed medication, social support networks, reduction of stress, and avoidance of certain recreational drugs) that can help reduce risks for illness onset or relapse. In addition, although testing for genetic susceptibility factors is not currently available, genetic counselors can facilitate patients’ understanding of risk through personalized estimates of chances for illness recurrence and assist patients with adoption of coping strategies to decrease risk behavior and protect mental health. Approximately 1 month after the appointment, each patient receives a follow up phone call, the purpose of which is to check in, answer additional questions, and see if another appointment is indicated (the vast majority of patients have a single session). Visual aids (“the jar model,” freely downloadable for members of the National Society of Genetic Counselors [NSGC], the Canadian Association of Genetic Counsellors [CAGC], and the Association of Genetic Nurses and Counselors [AGNC] from the organizations’ respective websites) are central to the information exchange and counseling that is provided.

Patients (≥18 years old) with a personal history of any psychiatric condition, whose primary presenting concern was their personal history, and who had completed their PGC appointment between September 1, 2015, and January 1, 2016, were invited to participate in our study. Patients were presented with information about the study either at the standard 1-month follow-up phone call or (for those who had completed their 1-month follow-up but had consented to receive information about research) by contact from a member of the research team (S.H.).

Participants were interviewed in person on the hospital premises or over the phone (according to participant preference) between October and December 2016. Interviews (all conducted by S.H., a graduate student in genetic counseling who had no prior clinical relationship with the participants) were conducted using a semi-structured interview guide (see online suppl. material; for all online suppl. material, see www.karger.com/doi/10.1159/000530366) which focused on the participant’s understanding of mental illness etiology and how they feel their understanding differs now, compared to before they had PGC, and their experience with PGC and its influence on their behavior. Participants were aware that the study was being conducted as part of S.H.’s graduate studies. These interviews were audiotaped, transcribed verbatim, and checked for accuracy.

Using constructivist interpretive description as our approach, we employed a constant comparative method of data analysis, whereby information from successive interviews was compared to emerging categories generated from previous interviews [27, 28]. All transcripts were coded and sorted into recurring thematic categories by one study investigator (S.H.), with secondary coding of a subset of transcripts by another member of the research team (E.M., a genetic counselor from the Adapt Clinic) to allow for in-depth discussion of key concepts. Data were coded and sorted into themes by hand, using highlighters/colored post-it notes and hardcopies of the printed-out transcripts. All members of the research team discussed emerging findings which then were used to develop a conceptual framework for how PGC influences participants’ behavior and management of their psychiatric disorder. Instead of using the concept of data saturation (a positivist concept that has been increasingly critiqued over time for often being arbitrarily invoked at a pragmatically convenient stopping point) and because a final point beyond which no further insights can be made is unrealistic [29‒31], we instead adopted the concepts of theoretical sufficiency and information power to guide our decisions about when to stop recruitment. Specifically, we considered recruitment and data collection to be complete when it was felt adequate data had been generated to meaningfully describe a phenomenon (theoretical sufficiency), and the data collected appeared to represent a likely diversity of experience (information power – a concept that considers the study aim, sample specificity, use of established theory, quality of dialog, and analysis strategy) [32‒35]. This process aimed to develop a framework which reflects our subjective and partial understanding as it is not possible to describe a complete and objective truth about the phenomenon of interest.

We obtained ethical approval from the UBC Children’s and Women’s Research Ethics Board (UBC C&W number: H16-01325).

Sixteen patients from the Adapt Clinic were invited to participate in our study. Eleven patients accepted the invitation, 1 patient declined, and 4 patients did not respond. Of the 11 patients who accepted, eight were interviewed for this study – at this point, data collection was halted as we felt theoretical sufficiency had been achieved. Two interviews were conducted in person, and six interviews were done over the phone. The average length of each interview was 49 min (range = 30–77 min).

Table 1 summarizes the socio-demographic characteristics of the study sample. At the time of the interview, an average of 9.5 months (range = 4–12 months) had elapsed since participants had their PGC appointment.

Participants recalled that before they had received PGC, they had varied understandings or misconceptions of the causes of psychiatric illness, which appeared to be associated with different emotions (Fig. 1a). PGC moved participants’ understanding of the etiology of psychiatric illness toward a multifactorial model and attended to the emotions related to their understanding of etiology. This resulted in participants having a deeper understanding of protective, risk-reducing factors and recognition of controllable versus uncontrollable contributors (Fig. 1b). This process (which is described in detail below) in turn seemed to contribute to the reported increase in uptake of protective, risk-reducing behaviors (Fig. 1c).

Participants recalled having varied understandings of the cause of mental illness prior to receiving PGC. Half of participants talked about an original understanding that was incomplete as they had perceived mental illness to be entirely due to genetic factors or entirely due to environmental factors.

Participants with this incomplete understanding described feelings of shame, fear, and guilt associated with their explanations for illness. Many expressed feeling abnormal for having psychiatric symptoms and blamed themselves or family members.

The other half of participants had fragmented understanding, in which they reported some understanding about both genetic and environmental factors contributing to mental illness but were unsure how to connect these components into a coherent whole. For example,

Participants who had fragmented understanding expressed feelings of defeat and hopelessness. These feelings reportedly stemmed from their perception that, now that they had developed mental illness, there was not much they could do to influence their mental health.

Many participants with incomplete or fragmented understanding who had children remembered having feelings of fear about passing their psychiatric disorder on to their children prior to having PGC.

Among participants who prior to PGC had incomplete knowledge about cause, the introduction of a multifactorial etiology concept had a significant impact on their perception of mental illness.

Some participants expressed feeling relieved of guilt as they had previously blamed themselves or their families for their mental health problems.

For those with previously fragmented understanding and who were already engaging in protective behaviors, they appreciated the reminder of the importance of theses protective behaviors and how these behaviors can manage their higher risk for relapse given that they already have a lived experience of mental illness and have a higher risk for future episodes compared to the average person. The genetic counselor validated and supported their efforts to protect their mental health.

Some participants described that breaking down the risk factors for an episode of mental illness into controllable and uncontrollable factors relieved feelings of shame, guilt, and blame. Some of these participants also reported that the genetic counselor helped relieve some of their guilt around engaging in protective behaviors, whether they felt they were not doing enough or doing too much of them. The genetic counselor validated and encouraged them to acknowledge that they are doing their best to manage their mental health and to have compassion for themselves.

For all participants, the discussion of how protective factors and environmental stressors of varying effect sizes are incorporated into the multifactorial model appeared to be most impactful. PGC established a concrete connection between protective behaviors and the cause of mental illness by reframing protective behaviors to explain how they can directly influence the onset of symptoms.

Participants also reported an increased sense of control from recognizing that certain subtle environmental stressors – which are risk factors for mental illness – can be controlled or at least counteracted by protective behaviors, which helps maintain their mental health baseline and can hopefully stave off or reduce the impact of large and obvious environmental and genetic factors.

Similarly, PGC helped participants’ confidence in their ability to engage in protective behaviors.

Finally, for both participants with incomplete and fragmented prior understanding, normalizing and validating participants’ experience increased their acceptance of their mental illness.

All but one participant reported making changes to their mental health management after receiving PGC. These changes primarily encompassed an increase in uptake of risk-reducing protective behaviors. Some participants reported engaging in more physical activity while other reported being more mindful about their nutrition and adhering to their medication. Many participants described improved sleep as a major change since receiving PGC.

Several participants also reported they started seeing a counselor, psychologist, and/or psychiatrist more consistently for support after PGC. One participant reported that she used to regularly make last-minute cancellations on her psychiatrist, but since PGC, she has been seeing the psychiatrist on a regular basis.

Many participants reported engaging in self-care more often. The activities of self-care varied across participants – from getting hair done to socializing – but they were consistently described as activities that help relieve stress and improve mood.

Lastly, many of the participants reported making a greater effort to prioritize and advocate for their mental health. Whether they were negotiating in social situations or interacting with healthcare professionals, participants were more determined in getting the support they need in order to protect their mental health.

Aside from one participant, who reported that her mental health was unchanged, participants reported that their general mood had improved since PGC.

Some participants have reported that they had not had an episode of psychiatric illness since they had PGC.

For those participants who have had active symptoms since PGC, they reported that the recovery time for these symptoms has shortened.

Participants discussed how they feel their active symptoms since PGC are more manageable and they are able to understand and accept their symptoms which allows them to engage with better self-care.

These data provide practical insights into the aspects of PGC that are critical to invoking behavior change. In sum, the connection between cause and protective behaviors must make sense to patients; however, prior to PGC, this connection often is not made clearly. Further, misconceptions about cause can generate feelings of guilt, shame, fear, and hopelessness. PGC helps solidify the connection between etiology of psychiatric disorders and protective factors and addresses these emotions. Guilt and fear can arise from patients’ low confidence in their ability to engage in behavior changes to reduce risk. PGC helps build self-compassion and self-efficacy, enabling patients to engage in protective behaviors, which seemed to motivate behavior change and consequently improved mental health outcome.

Though previous studies exploring and documenting behavior changes after genetic counseling are sparse [36‒38] (reviewed in [39]), our findings build logically upon and are broadly consistent with previous work. For example, previous studies have shown that genetic counseling for other etiologically complex conditions increases the degree to which patients perceive their condition to be controllable [22, 23] – which suggests that behavior change may be a possible downstream outcome. Accordingly, studies have shown that genetic counseling influences adherence to medical management recommendations [37, 38] in pediatric and cancer settings. Finally, patients’ perceptions of the process of PGC were recently explored [40]; though the primary focus of this work was not on behavioral change outcomes of the process, it did emerge from the data as a theme [40]. Our data – collected with a specific focus on exploring behavioral change outcomes – provide depth and richness to, and build upon, our developing understanding of patients’ experiences of the outcomes of PGC.

Our data suggest that the behavior changes that can be an outcome of genetic counseling are facilitated by two clusters of processes within the genetic counseling session. Specifically, first, the PGC process ensures that patients’ understanding of cause of illness is connected to suggestions for risk reduction strategies (“protective factors”) in a manner that is both conceptually coherent and personalized. The genetic counselors help separate controllable vulnerability factors from those that are uncontrollable and ensure that patients understood the personal relevance of the information (i.e., genes and environment combine together to precipitate illness, and that as someone who already has lived experience of psychiatric illness, the protective factors are especially important). The second PGC process that our data suggests can facilitate behavioral change as an outcome is addressing emotional issues like guilt, shame, stigma, and fear that can originate from misconceptions about the cause of mental illness and uncertainties about ability to manage mental health.

These two clusters of processes (Fig1a–c) identified in our data align with behavior change models like the self-regulation theory which suggests that behavior change is supported by two parallel streams [41]: cognitive representation (which refers to an individual’s pre-existing perception of a disease including their perception of cause and their ability to cope), and emotional response to the health information.

A substantial body of previous work [13‒17] has shown that genetic information in the form of a genetic test result does not elicit significant behavior change. Given models of behavior change like self-regulation theory that are supported by the data we present here, these previous findings are not surprising. Genetic counseling, however, should be a very different process than simple provision of a genetic test result – ideally, it should be psychotherapeutic rather than simply educational – especially if the goal is to help patients make behavior changes to protect their health in the future. The genetic counseling that the participants received in this study did not include the return of genetic test results. Since the participants all already had a mental illness, the focus of the genetic counseling was not about providing risk estimates (based on family history) but rather was focused on helping patients understand the role of both genetic and environmental factors in the development of their mental illness. Thus, our study also highlights that disclosing genetic testing and/or numeric genetic risk information is perhaps not critical to facilitating behavior change related to illness management.

Our study showed that patients with a personal history of psychiatric illness recalled having misconceptions and/or uncertainties prior to PGC about the cause and protective behaviors associated with mental illness, which caused feelings of guilt, shame, fear, and hopelessness. PGC reframed the etiology of mental illness and related it to protective factors as controllable factors that promote mental health as well as addressed the emotions related to patients’ perceptions of etiology. After PGC, patients reported increased sense of control, confidence, and acceptance of their psychiatric disorder. This change in perception may explain the reported increase in uptake of protective behaviors and consequent improved mental health outcomes among participants. There is a need for more rigorous research studies of all kinds that aim to explore the behavioral outcomes of well-described genetic counseling interventions [42] across all sub-disciplines. The specific behavioral outcomes of genetic counseling may vary according to clinical context (e.g., cancer as compared to cardiovascular genetic counseling) and focus of the genetic counseling intervention. However, there is great value in understanding – through both qualitative and quantitative work – the mechanism for and frequency of such changes, as well as any downstream effects they may have (e.g., economic, health outcomes). For example, the data presented here identify specific behavior changes that could inform larger quantitative studies exploring behavior changes after PGC.

Though our sample size is relatively small, we achieved theoretical sufficiency through the power of the information we gathered. Though our participants were of diverse ethnicity and varying ages, they were relatively homogeneous in other ways – they were primarily women with depression (which is also a reflection of the population of patients seen in the Adapt Clinic) – this facilitated the achievement of theoretical sufficiency, but does leave open the possibility that for other groups of patients (less frequently seen in the Adapt Clinic), the behavioral outcomes of PGC may be quite different. Most of our participants had limited recall about specific details from their genetic counseling interaction. While this could be perceived as a weakness, it also meant that we focused on what had been most meaningful about the interaction for participants – what had really made an impact for them. Participants’ lack of recall of specific details of their session could have been related to the fact that, for most, quite some time had passed between their session and the interview (4–12 months). Again, while this could be perceived as a weakness, it also serves to suggest that the effects of PGC are sustained over time. Our data were also collected in 2016 and thus may not reflect current experiences of patients.

The interviews may also be subject to social desirability bias and recall bias, and influenced by the fact that patients are able to self-refer to psychiatric genetic counseling. Our findings may not be applicable to genetic counseling for other conditions, due to both the population studied and the approach and focus of PGC (e.g., absence of genetic testing).

This study was conducted to fulfill a degree requirement as part of training. The authors thank Ms. Jenna Scott, Ms. Tracey Oh, Ms. Patricia Birch, Dr. Alison Elliot, Dr. Neal Boerkoel, and Dr. Alicia Semaka for their input, Nicole Liang for transcribing the interviews, and the Translational Psychiatric Genetics Group (TPGG) for their support. J.A. was supported by the Canada Research Chairs program and the BC Mental Health and Substance Use Services. The authors offer gratitude to the Coast Salish Peoples, including the xʷməθkwəy̓əm (Musqueam), Skwxwú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations, on whose traditional, unceded, and ancestral territory we have the privilege of working. We acknowledge that our efforts in reconciliation and repatriation need to go far beyond land acknowledgments, and we hold ourselves publicly accountable to learning and doing as much as we can to support efforts in returning the land to its rightful custodians.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed verbal consent was obtained from all participants included in the study; this procedure – and the study overall – was reviewed and approved by the University of British Columbia Children’s and Women’s Research Ethics Board (H16-01325).

E.M., A.I., and J.A. are or have all been involved in the provision of PGC services, but otherwise declare that they have no conflicts that could bias this work. S.H. declares no conflict of interest that could bias this work.

This study was funded by the NSGC Psychiatric Special Interest Group.

S.H. contributed substantially to the design of the work, acquisition of data, and analysis and interpretation of the data; drafted the manuscript; approved the final version; and agrees to be accountable for all aspects of the work. E.M. contributed substantially to the analysis and interpretation of the data, revised the manuscript for important intellectual content, approved the final version, and agrees to be accountable for all aspects of the work. A.I. contributed substantially to the interpretation of the data, revised the manuscript for important intellectual content, approved the final version, and agrees to be accountable for all aspects of the work. J.A. contributed substantially to the design of the work and analysis and interpretation of the data, co-drafted the manuscript, approved the final version, and agrees to be accountable for all aspects of the work.

Stephanie Huynh and Emily Morris contributed equally to this work.

The data that support the findings of this study are not shared due to privacy or ethical considerations. Queries can be directed to the corresponding author.