The potential impact of genetic counseling for mental illness

Mental illness represents a common, complex set of disorders. Schizophrenia affects 1% of the population, and bipolar disorder affects slightly more people at 1–2% worldwide. In estimates for the Global Burden of Disease 2000 study, both schizophrenia and bipolar disorder are amongst the top 10 leading causes of non-fatal burden, accounting for more than 5% of the global burden of disease (http://www.who.int/whosis). These two illnesses are estimated to cost $1.2 trillion annually in the US alone (1). The emotional burden of mental illness takes a no less significant toll on family members of affected individuals (2).

Amongst the complex disorders, which include asthma, diabetes, hypertension, stroke, and multiple sclerosis, mental illnesses are relatively highly heritable (3).

Schizophrenia has an estimated heritability of 60–85%[4, 5], and the figure for bipolar disorder is around 70–85%[6, 7]. Heritability for mental illnesses is substantially higher than for other medical illnesses such as breast cancer or heart disease, diseases widely recognized by the public as having a familial component (8). Ongoing genetic research into these major mental illnesses has recently begun to bear fruit, and this field represents one of the most exciting areas of rapid advance in complex disorder genetics. Several genes seem to play a role in schizophrenia susceptibility and have even been deemed worthy of the label ‘schizophrenia genes’ (9).

Concurrent with considerable research on the genetic etiologies of major mental disorders, interest in the potential impact of this increasing knowledge, and the relevance to genetic counseling is increasing (9–20). Genetic counseling has been variously described over the decades, but perhaps the most enduring and oft-cited is the description devised by the American Society of Human Genetics (21):

Genetic counseling has applications in many different areas, but arguably the best established and characterized of these would be: prenatal diagnosis of genetic conditions, pediatric and adult onset disorders exhibiting simple Mendelian inheritance patterns, and genetic syndromes.

Despite the comparative newness of genetic counseling for complex genetic disorders, a relatively clear picture concerning the basic content of the session has been established (16–19). Goals for this application of genetic counseling have also been proposed, including – but not limited to – the promotion of health-enhancing behaviors, and facilitating accurate and useful risk perception (22). However, the process and potential impact of genetic counseling for mental illnesses remains ill defined.

To date, outcome studies of genetic counseling have largely, but not exclusively focused on counseling/testing for hereditary cancer (23–26). Outcome measures have included knowledge, anxiety, depression, and health-related behaviors. Other disorders where the outcome of genetic counseling/testing has been assessed include: Huntington's disease (where the process of coping with the test results and the psychological adjustment to knowledge about new genetic status have been shown to vary considerably) (27), myotonic dystrophy (28), and familial hypercholesterolemia (29). No data are yet available regarding the outcome or impact of genetic counseling for mental illnesses.

Genetic counseling for mental disorders occurs within a challenging context. First, individuals and their families affected by mental illness are arguably the group of people most profoundly affected by disease-associated stigma, guilt, and shame (30, 31). Secondly, information regarding genetics in mental illness is incomplete – even though susceptibility genes are being identified (9), the significance and mechanism of these genes in conferring mental illness susceptibility remains to be established (13, 32). There is currently no testing available related to any of these genes. Third, providing recurrence risks to family members are seldom easy (18) – empiric data are incomplete and recurrence risks are frequently in the form of broad ranges (17). Fourth, the environment is a potentially important interacting factor in disease pathogenesis (33–35). Thus, perhaps fittingly, the counseling for complex disorders could justifiably be described as complex.

Although there are limitations to current research, new developments do provide information useful to clinical practice. With the foundation of a clear picture of the basic content of a genetic counseling session for mental illness, a closer look at the role and potential impact of genetic counseling for mental illness seems appropriate.

Guilt, shame, and theories of the cause of mental illness

Families touched by mental illnesses often feel profoundly affected by stigma associated with the disease, as well as by feelings of guilt and shame. Whilst the words guilt and shame are often used synonymously, a distinction can be made between these states. Guilt is generally a self-reproach response to breach of internal standards or values, while shame is usually a response to actual or anticipated external stimuli (e.g. disapproval, ridicule, and scorn) (36). Historical attributions for mental illness provide an important perspective to help understand the origins of the guilt and shame associated with mental illness.

Kraepelin established the clinical description of schizophrenia and bipolar disorder in 1893 and 1899, respectively. He went on to produce a classification system for mental illnesses based on cause, symptomatology, course, final stage, and pathological anatomical findings. Following development of this classification system, which has continued relevance, many theories of the origin of mental illness were considered. One theory, which was influenced by the work of Freud, directly attributed mental illness to instability in the care-giving relationship – a role at the time almost exclusively played by the mother. This led to the concept of the schizophrenogenic mother (37). Physical distance, erratic patterns of behavior, or physical or emotional abuse on the part of the care-giver were proposed to interfere with trust and security, potentially giving rise to anxiety and psychological problems later in childhood or early adulthood. The legacy of this particular theory still lingers, and many mothers of a certain age report being blamed by healthcare professionals for their son's or daughter's illness.

Even in modern western culture, some theories can still be interpreted as attributing blame to families. One such concept concerns expressed emotion (EE). For family members with established mental illness, evidence suggests that in families with a high level of EE there is a higher frequency of relapse of illness (38). EE is often cited as being demonstrated by critical comments, hostility, or emotional over-involvement. The natural assumption from these observations has been that high levels of EE leads to increased stress in the patient and precipitates a relapse (38). Many studies have indeed showed a correlation between these factors, but the results are by no means conclusive (39). The theory has been criticized as culturally biased, and whether a high level of EE is a cause or an effect of living with a mentally ill family member is questioned (40, 41).

It is unsurprising that many families harbor deep-seated feelings of responsibility for their loved one's illness. However, as a consequence of increasing recognition of the biological causes of mental illness, psychoeducation for affected families generally encompasses the ‘chemical imbalance in the brain’ model of mental illness.

The Maryland chapter of the National Alliance for the Mentally Ill addresses positive aspects of these changes:

(http://www.md.nami.org/aboutmi.htm)

In addition to attributions of causation, history provides additional sources of feelings of guilt and shame. The eugenics movement during the 1900s to 1940s, which was implemented in countries including Germany, USA, and Britain, involved various programs of compulsory sterilizations and euthanasia targeting individuals with mental illness. The justification was largely economic, and ‘feebleminded’ individuals were deemed to be ‘useless eaters’ (42). In present times, knowledge of this history could continue to be extremely damaging to the self-esteem of individuals with mental illness and their families. As well, the influence of nation states on individual choices concerning reproduction continues to exist.

In China, history and culture values the needs of and benefits for the community over the needs of and benefits for the individual. There is a view that the population is dangerously large and that too many people have a disability (43). As a result, eugenic programs have been initiated. China currently has a stated aim to prevent new births of inferior quality. By law, marriage where one or both parties have schizophrenia or bipolar disorder is to be postponed until the illness is resolved. Even then, childbirth is forbidden. The given reasons for this are that severe mental illness usually develops in youth, that affected individuals are unable to carry out their marital, parental, or civic responsibilities, and lastly, that it is hereditary (44). There is evidently great concern about the hereditary nature of these illnesses amongst Chinese psychiatrists (45). Unfortunately, there is little access to genetic counseling, and understanding of the interaction of genetic risk factors and the environment needs to be improved. In general, there is poor acceptance of people with mental illness by both society and affected families. A psychiatric patient is considered a source of disruption and chaos, someone who is an inherent threat to public order and who needs to be controlled by outside forces (45). An incredible amount of stigma is attached to mental illness – with affected individuals facing open discrimination.

The importance of stigma

Stigma can be defined as a mark or label that sets an individual apart as being different in the negative sense, making them undesirable, and precipitating social rejection and discrimination. Stigma has a strong and directly negative impact on self-esteem (46) and well-being (47). Individuals with mental illness who have a high level of self-esteem have better adherence with prescribed treatment and better recovery of function than individuals with low self-esteem.

Stigma negatively impacts not only the affected individual, but the family as well (48). This so-called associative stigma (whereby an individual is stigmatized because of their association with an already stigmatized person) is a serious problem in its own right (49). Family members may be blamed for causing their loved one's illness, they may have their own mental health questioned, or be rejected by friends (50). This stigma experienced by family members leads to increasing withdrawal and isolation, decreasing the size of the social network, and reducing emotional support. Quality of life is reduced, sense of burden increases, and medical conditions are exacerbated [51, 52]. The stigma felt by the family also impacts the affected individual. The probability of early detection by the family of signs of relapse is lower, and the likelihood of the family seeking and/or accepting treatment for the affected individual is reduced (53).

The effects of stigma are far-reaching, multifaceted, and unambiguously negative. Stigma is regarded by the World Psychiatric Association as such an important negative influence on the lives of individuals with mental illness and their close family members, that an international campaign has been initiated which aims to combat the stigma and discrimination associated with mental illness (30, 31).

The role of genetics in mental illness: potential impact of education on guilt, shame, and stigma

As already discussed, many, if not most families still quietly nurse the fear that they have somehow caused the mental illness in their loved one (54). Both shame and guilt may be experienced by members of affected families, and distinguishing these responses from each other can facilitate the utilization of appropriate counseling interventions – these are discussed in detail elsewhere (36). However, a potential consequence of increased awareness of the role of genetics in mental illness is reduction in the guilt and shame associated with the parental fear of responsibility for the mental illness in an offspring. A family member states¹:

Feelings of guilt in particular can be exacerbated in situations where the cause of a particular illness is unclear (36). Thus, providing information regarding the genetic contribution to mental illness could serve to decrease ambiguity and therefore also guilt. However, while there is potential for decreasing guilt by increasing knowledge, this is inescapably intertwined with the potential to exacerbate guilt (22). As is also the case for families affected with other genetic conditions, families affected by mental illness face increased guilt at having passed on a genetic pre-disposition. As this parent of an adult son with bipolar disorder says:

Genetic counselors need to deal delicately with issues such as these and have strategies for delivering information about the role of genetics whilst carefully reassuring individuals that passing on particular genes is not a source of blame. Detailed guidelines are available elsewhere regarding strategies and timing for dealing with this complex issue (36).

Another common theme in guilt relates to denial or failure to recognize early symptoms. Another parent says:

Family members often have no experience of, or exposure to mental illness at the time of the first occurrence of a mental health crisis in a family member. In this situation, families benefit greatly from reassurance that unawareness of the nature and magnitude of the unfolding illness is very common.

Concerning stigma, genetic explanations may help de-mystify mental illnesses and lessen fear of individuals with a mental illness. Attribution of mental illness to the affected individual (such as bad character) leads to desire for increased social distance (or avoidance). In contrast, attribution of mental illness to other sources (such as stress or circumstance) leads to reduced social distance or deceased avoidance (55). In the words of another parent:

Decreased fear and avoidance of individuals with mental illness should reduce discrimination against these individuals and families, and decrease stigma. Educating affected families, and enabling them to share their new knowledge with friends and relatives could reduce the negative impact of the stigma, or reduce the stigma experienced. Either way, genetic counseling for mental illness holds the potential for improving quality of life for family members and improving the prognosis for affected individuals.

However, genetic explanations of mental illness may have very different consequences. If a society labels affected individuals as biologically defective and different, genetic explanations may give rise to a stigma-increasing ‘us and them’ mentality (50). The happenings in China illustrate an extremely negative consequence of a narrow interpretation of progress in genetic understanding. In a similar way, some psychiatrists and social psychologists have suggested that emphasis on biological etiologies could increase within-family stigma, by leading parents to regard their affected children as defective (50).

With care, the genetic contribution to mental illness can be explained in such a way to avoid fostering an ‘us and them’ attitude towards affected individuals. Although research on specific interventions is lacking, strategies which may help to develop positive attitudes are available. One instrument that may potentially be useful is the multifactorial threshold model (56). This approach demonstrates that the majority of individuals have an intermediate pre-disposition towards complex disorders and emphasizes the similarities between affected and unaffected individuals. A second strategy that may also potentially be useful in this scenario is to stress that genetic variations are not specific to individuals with illnesses in which genes play a role. It is likely that every single person has several of these variations.

There are also other potential negative consequences of providing affected families with information about the role of genetics. For example, unless handled with care, the family with new knowledge regarding the genetic contribution to mental illness could look at the illness from a deterministic standpoint, for example ‘There is nothing that we could have done. He is genetically programmed to have mental illness’[3, 29, 57]. This belief can result in no hope of recovery and ignoring the importance of lifestyle choices and the environment (29) – all expressions of stigma. In the worst-case scenario, the family gives up on the affected individual.

In actuality, the reverse is true. There is hope for recovery from mental illnesses, and lifestyle choices (such as whether or not to take illicit drugs) and the environment (high stress or low stress) are critically important. Time spent describing the multifactorial nature of mental illnesses, and the importance of contributions of both genetics and the environment can help avoid deterministic views. As well, although genes may pre-dispose to illness, they are also likely to make significant contributions to the likelihood of recovery.

The impact of genetic counseling for mental illness on stigma remains uncertain. What is clear from these diverse views is that the educator should be aware of all the potential implications of the information. Education must be provided in a very well thought out manner in order to avoid potential pitfalls and promote positive consequences.

Providing recurrence risks: impact on stigma

Counseling concerning the genetic contribution to mental illness is closely tied to providing recurrence risks for family members. Discussion of recurrence risks causes anxiety for any family affected by a genetic illness. This seems to be particularly acute for families affected by mental illness. Preliminary data indicates that as many as a third of individuals who have a close relative with a mental illness chose to have fewer or no children as a result of this family history. Most of these individuals have not received genetic counseling and in general recurrence risks are overestimated (Austin, J.C. unpublished data).

Providing families affected by mental illness with recurrence risk information has the potential for unaffected relatives to be labeled as ‘at risk’ and treated in the same discriminatory manner as the affected individual – a phenomenon known as anticipatory stigma (50). Imagine a situation where a 19-year-old recently diagnosed with schizophrenia has a 10-year-old brother who sometimes has temper tantrums. Based on his behavior, the parents of the 10-year-old assume that he too is going to develop schizophrenia, just like his sibling and accordingly, begin to treat him differently and bring him for repeated psychiatric assessments. This obviously has the potential to be very damaging for the development of the 10-year-old.

There is however, a subtly different, yet infinitely more positive potential consequence of the family's increased awareness of the genetic contribution to mental illness. In this situation, the family is aware of the elevated risk for mental illness amongst siblings of an affected individual and is also aware of the signs and symptoms of the onset of a mental health crisis. The family would then be ideally placed and prepared to intervene and seek appropriate help for the sibling should they become concerned that a mental illness was developing. As this mother of three children points out:

In order to facilitate optimal adjustment of the family to the information regarding recurrence risks, it may be helpful for the counsellor to initiate an open discussion of the potential impact of their new knowledge on their awareness of other family members' mental and emotional states.

One theme that frequently emerges during such discussions, is concern regarding the difficulty in recognizing the differences between normal adolescent behaviors and emerging mental illness in close relatives of affected individuals. It may be helpful for the counselor to acknowledge the difficulties in differentiating between these presentations and to emphasize the importance of open communication within the family regarding issues of mental health. Furthermore, the counselor should provide reassurance to the family that they are in the best possible position to seek timely interventions (leading to improved prognosis) should they have any future concerns regarding potential emerging mental illness in close relatives of affected individuals. The new keen awareness of the mental health of other family members should be normalized by the counselor and the associated difficulties and potential benefits acknowledged.

The role of environment in mental illness: potential impact on family members' guilt

Families generate their own explanations of the causes of disease based on their experience (58). These explanations for the origins of mental illnesses often extensively feature environmental factors, which are also often associated with significant guilt. For example, families often have questions that have remained unspoken for years, such as whether the mental illness is a result of smoking during pregnancy, a head injury as a result of a fall at 4 years when no one was watching for a brief moment, or a childhood immunization. Thus, a review of genetic counseling for mental illness cannot be complete without discussion of the role of the environment in the pathogenesis of the illness. In order to provide genetic counseling in a manner that enables families to assimilate new information into their own existing belief system, it has been shown that discovering and addressing the family's explanations regarding the etiology of the disease is crucial (58). Comprehensive genetic counseling for complex disorders requires understanding of the role of environmental factors in determining illness susceptibility.

Environmental factors contributing to schizophrenia were recently reviewed (59). Current research concerns roles for obstetric complications (60), urban upbringing (35, 61), winter birth (62), history of head injury (63, 64), and immigration (65, 66). Relative risks attributable to these influences range from 1.1 to 2 for winter birth, to possibly as much as 10 for immigration. These relative risks are generally lower than the relative risk attributed to genetic factors. However, prevalence of exposure to many of these factors is high in the general population, and the associated attributable risk may therefore be substantial (67).

Although associations between these influences and subsequent mental illness have been identified, the mechanisms by which these influences make their contributions remain the subject of much discussion (68). Other influences such as history of trauma (69), illicit drug use (70), and stressful life events (71) appear to play a role in many cases of mental illness, but relative risks are difficult to assign, and again, their mechanisms of action remain unknown. Still other factors (such as a history of various viral infections) (72–74) remain debated as to whether they contribute to susceptibility to mental illness. In summary, discussing the contribution of the environment to mental illness with family members requires an emphasis to be placed on the relatively small contributions of these individual risk factors and the limitations of our current understanding.

As has already been discussed, most families feel some degree of responsibility for their loved one's illness at some stage. One particular environmental factor that seems to be of crucial importance in a mental health crisis, is stress (53). A relatively effective way to reduce the likelihood of recurrence of a mental health crisis is to reduce stress, and this forms part of current practice guidelines for schizophrenia (75). Despite the disagreement surrounding the cause-and-effect relationship between EE and mental illness relapse, it has been recommended that families should be educated about techniques to reduce home-life stress for the affected individual (40). Providing this education whilst simultaneously attempting to minimise the families’ feelings of responsibility for their loved ones’ illness is a delicate and difficult balance.

Although this goes beyond the training of most in genetic counseling, identification of families with significant stress is important, and referral can then be made to appropriate team members for intervention. A general principle is that families benefit from being reassured that frustration with, and criticism of their affected family member are completely normal responses to an abnormal and upsetting situation and that they may notice themselves responding this way because they feel confused and want their loved one to be back to normal. The family and the affected individual may benefit from being helped to understand that by reducing these responses, they may reduce the stress for their affected loved one and therefore, decrease the chance for a recurrence of a mental health crisis [40, 53].

Genetic counseling for mental illness

Genetic counseling sessions for mental illness arguably require more specialized skills than sessions dealing with many other kinds of illness. While the multifactorial nature of the inheritance may be no more complex, the delicacy required when discussing both the genetic and environmental contributions in the context of the often difficult psychosocial family situation makes mental illness counseling particularly challenging. The following points may be useful when counseling families for mental illness:

This paper has attempted to address some of the issues surrounding the potential impact of genetic counseling for mental illness and has attempted to highlight ways in which the negative implications of increased genetic knowledge can be avoided. This is in no way a comprehensive guide to genetic counseling for mental illnesses. In dealing with mental illness, while genetic counselors face a great deal of responsibility, there is equally great potential to have a significant impact for the affected individual, family, and perhaps even society. Counseling outcome is dependant on a multitude of interacting factors, including counselee characteristics, counseling relationship characteristics (76), and societal and cultural factors. However, whether the impact of genetic counseling for mental illness is positive or negative depends (at least in part) on the attributes of the counselor (77); including skill, experience, training, knowledge, awareness of the issues, and sensitivity.

Acknowledgements

The authors thank Dr Tania Lecomte, Dr Bill MacEwan, Dr Weihong Song, and Dr Veronica Pearson for stimulating discussions and helpful comments. JCA and WGH were supported by CIHR NET-54013, the Michael Smith Foundation for Health Research, and the Provincial Health Services Authority of British Columbia.