Adaptation to living with a genetic condition or risk: Mini-review

Clinical geneticists and genetic counselors understand quite well the impact of genetic conditions and risk on individuals, parents and families. The impact is loss; loss of one’s previous identity as a healthy person or loss of one’s expectations for having a baby without difference or medical compromise. This loss is not unique to genetic conditions or birth defects as it occurs when one receives a diagnosis of a serious acute illness or chronic condition. The diagnosis of any condition that significantly threatens one’s health leads to stress. Most affected individuals, parents and families manage the stress, and some demonstrate remarkable resilience. About a third, however, fail to adjust well to the stress of a genetic condition or risk (1, 2). These patients can benefit from help offered by their health care providers.

A contemporary definition of genetic counseling concludes with the goal of facilitating adaptation to a genetic risk or condition (3). Genetics health care providers frequently use “adaptation” in describing their patients. For example, “the Smiths seem to be adapting well to John’s condition.” It is a familiar term that suggests that a patient or family is doing well psychosocially and functionally. Yet in the professional literature it is unclear what is meant by adaptation and how genetics health care providers can facilitate it.

Generally, adaptation refers to the process of coming to terms with the implications of a health threat and the observable outcomes of that process. In the health psychology literature there are a variety of descriptors and definitions of adaptation, complicated by the use of the synonyms “adjustment” and “acceptance.” Other concepts closely tied to adaptation are quality of life and psychological well-being. Livneh and Antonak define it as “a)…cognitive reconciliation of the condition, its impact, and its chronic or permanent nature; b) an affective acceptance, or internalization, of oneself as person with a condition, including a new or restored sense of self-concept, renewed life values, and a continued search for new meanings; and c) an active pursuit of personal, social and/or vocational goals, including successful negotiation of obstacles encountered during the pursuit of these goals (4).” The variation and complexity in the process or desired outcomes described as “adaptation” reflect the current empirical and theoretical state of adaptation research. The inconsistency reflects the evolution in conceptualizing what it means for an individual, parent or family to adapt to a genetic condition or risk and for developing, using and studying interventions that may facilitate it.

Adaptation has been studied in adults with a variety of conditions, primarily those with the greatest public health impact; for example, cancer, cardiovascular disease and diabetes (4–9). It has also been studied among adults with disabilities (4). Adaptation of children and parents of children affected with rare conditions including genetic conditions and birth defects has been studied to a more limited degree (10–12). This mini-review summarizes what is known about adaptation across chronic diseases and disability, including genetic conditions, and what the evidence suggests for genetics health care providers.

Adaptation as a process

Humans are constitutionally resilient. Resilience is the ability to withstand and rebound from disruptive life challenges, becoming strengthened and more resourceful (13). It entails struggling effectively, working through and learning from adversity and integrating the experience into one’s life. The majority of people adapt to a chronic illness or disability over time with little help from health care providers. Yet the more health care providers understand the process, the more opportunity there is to intervene to enhance the process for those who are less successfully adapting; for example, by removing barriers or minimizing predictors of poor adaptation. To do so, providers need to understand what comprises adaptation, how to assess it, and how to intervene.

Adaptation is understood as a multi-dimensional temporal process. At any one point in time, one can be assessed as being more or less well adapted, but that assessment would be expected to change with time. The multidimensionality of adaptation has led to the development of several conceptual models. Comprehensive models account for intra- and inter-personal psychosocial dimensions as well as physical functioning, personality traits, and economic resources (4,14). While each of these domains influence adaptation, we focus on stress and coping models because they represent a central component of adaptation. In these models, important contextual factors such as character traits and economic resources are excluded. While, for example, an optimistic person of higher means may adapt more readily than a pessimistic person of lower means, personality traits and economic status are circumstances largely beyond the control of providers. Stress and coping models highlight concepts that providers can influence. We look first to Shelley Taylor’s Theory of Cognitive Adaptation (15).

When a diagnosis of a genetic condition or birth defect is made, for example, parents of an affected child first inquire about what the condition is and why it has occurred. “Why?” refers to understanding the cause within a greater search for meaning. From her research with breast cancer patients and others faced with a health threat, Taylor describes the necessity of finding meaning in the experience as an important early task in adaptation (15). One aspect of finding meaning involves identification of cause, referred to as the formation of causal attributions.

Genetics providers are often involved in discussions with parents about genetic or developmental causes of their child’s condition or with adults affected with a genetic condition. Affected individuals and parents of affected children often hold several different causal attributions, such as family history, God’s will and stress (16). Each attribution helps them to make sense of what happened, even when the causes seem to conflict. If one believes that a condition arose as a result of stress, for example, one can strive to avoid it in the future. This does not preclude one believing it was God’s will that it happened or that genetics played a role.

Further, parents seek to find existential meaning in their child’s condition. This process aims to understand WHY they came to be in the situation. When health care providers become involved in the existential journey of their patients they are afforded opportunities to help families integrate scientific understandings of cause with metaphysical or spiritual ones. Taylor’s research findings remind us that adults are capable of holding multiple causal attributions and that scientific ones need not trump existential ones. Geneticists help families adapt when they avoid suggesting that a scientific cause is the only or the most important causal attribution.

Geneticists are often involved in another task of adaptation described by Taylor as regaining mastery or control over one’s life. A diagnosis is initially disruptive and leaves parents or an individual feeling out of control. They seek ways to regain feelings of control by learning as much they can about the condition, taking control over aspects of medical care, joining support groups, striving to achieve a good outcome for themselves or their child, finding the best schools or other resources, and finding ways to meet their own or their child’s needs. With respect to families with children affected with a genetic condition, all of these activities have tangible benefits for the child but they also help parents to regain feelings of control over their child’s well-being. In a situation where they are not able to control whether the child is affected, they can control aspects of how the condition will affect their child and their family. At the end of this review we discuss ways that genetics providers can suggest opportunities for parents or individuals to regain control as a means of facilitating adaptation.

Ultimately, Taylor describes restoration of self-esteem as a further step in the process of adaptation (15). Studies indicate that those affected with chronic illness are often able to describe personal growth that results from their illness, resulting not only in restoration but even enhancement of self-esteem. Taylor described “positive illusions” or indications of renewal and hopefulness. Parents of children with genetic conditions do not necessarily prefer that their children are affected, but they similarly describe personal growth resulting from their experience, testimony to Taylor’s findings.

Overall, Taylor identifies three central components to the process of adaptation-a search for meaning, efforts to regain mastery or control and restoration of self-esteem-that individuals, parents and families accomplish over time. Defining the outcomes of this process helps providers to recognize whether someone has indeed “adapted.”

Adaptation as an outcome

How individuals adapt (as a process) and whether they adapt (as an outcome of having a condition) are distinct but related empirical questions. Descriptions of the process of adaptation suggest the existence of an outcome of positive adjustment to chronic illness, but they often fail to reveal observable indicators of the outcome of that process. Stanton and colleagues found at least five concepts related to positive adjustment in a literature review of adaptation to chronic disease (17): successful performance of adaptive tasks, absence of psychological disorder, low negative affect and/or high positive affect, functional status and appraisals of satisfaction or well-being. These concepts are measured distinctly using, for example, successful achievement of illness-related activities, absence of depressive symptoms, positive psychological well-being or high quality of life. These concepts, captured at any one time, can be thought of as a function of the complex multi-dimensional interplay among components of the adaptation process. Like the process, each outcome can be described as having intra- or interpersonal dimensions.

Intra-personal dimensions of adaptation outcomes are cognitive (self-esteem), affective (lack of depressive symptoms) and behavioral (functional status). Inter-personal dimensions relate to relationships with family and friends. These various dimensions are interrelated. For example, depressive symptoms may be correlated with low self-esteem. Researchers concur that adaptation is not merely the absence of pathology (18). A lack of depressive symptoms, for example, is not sufficient to suggest positive adaptation. Thus, assessment of adaptation state involves several dimensions of parents’ or individuals’ lives, including self-esteem, positive affect, successful coping and successful re-integration into the lives of family and friends.

We present next Lazarus and Folkman’s Transactional Theory of Stress and Coping in which adaptation is the outcome that follows from primary and secondary appraisals and coping (19). Appraisals are perceptions of one’s ability to manage the stress of a health threat, and they lead to choices of coping strategies. Lazarus and Folkman’s model is the most widely used model to frame research on adaptation to a chronic health threat. There exists significant empirical evidence for its usefulness in predicting coping and adaptation (20). Findings suggest that appraisals are important predictors of adaption and ones that providers can enhance. For example, if a patient cannot envision a strategy to manage their condition, a provider could help to identify one that the patient feels s/he could implement.

Maes and colleagues elaborated on Lazarus and Folkman’s model with the addition of the influence of individuals’ life goals on adaptation to a condition (21). The more one’s central life goals are threatened by the condition, the more stressful the situation may be and the more difficult it will be to adapt. Thompson and colleagues further expanded the model to include family functioning in an effort to understand family adaptation to the stress of a condition (22). Studies of families with children affected with cystic fibrosis and sickle cell anemia provide support for the expanded model with the model’s variables accounting for up to 68% of the variance in familial adaptation to these conditions (23).

Zimmerman and Tansella expanded the Transactional Stress and Coping Model to a biopsychosocial model (24). Indicators of neuroendocrine and immune function appear as biological responses to stress and mediators of the relationship between coping and adaptation. The model further includes affect in recognition of Taylor’s positive illusions, which in her theory appear as outcomes of adaptation but can also serve as moderators of the process. The biopsychosocial model is new and relatively untested but includes an expanded group of predictors, suggesting further the limitations of linear or simple models and the complexity of assessing the components of adaptation and their inter-relationships.

Overall, adaptation is a dynamic process that is difficult to capture at a single point in time. However, understanding how a patient is functioning according to several different outcomes at a given time point provides some evidence of how effectively the patient is managing the stress of their condition. Despite expected variation over time, longitudinal studies of children with cystic fibrosis and their mothers have demonstrated relative stability in adaptation assessed over multiple time points (23), supporting some value in cross-sectional assessments.

Adaptation to chronic illness

Several studies have examined adults’ adjustment to chronic illness across different conditions (25). Overall, individuals affected with chronic illness have comparable levels of adjustment, and these levels have been shown to be more positive than those of depressed outpatients (4). Similarly, social support has been shown to be associated with positive adaptation across chronic conditions (8, 26–28).

Two broad conclusions can be drawn from the descriptive studies on adjustment to chronic illness (17). First, most individuals adjust well to chronic illness over time. Researchers caution however that this could be due to shifting comparison standards so that affected individuals compare themselves to others affected with the same condition rather than to unaffected individuals or to to their former selves. Taylor and Brown attribute this to the pervasive human tendency toward positive self-evaluation (29). It is also possible that chronic illness has a somewhat circumscribed, rather than a global, impact for most people (17). Secondly, considerable variability has been shown in psychological adjustment across studies and across individuals. The variation may be attributed to differences in outcome measures. Yet some variation may be explained by the differences in variables in the stress and coping models, such as the effectiveness of coping strategies and the availability of social support.

Adaptation to genetic conditions

Overall, far more studies have assessed distress among children and adults living with genetic conditions than have addressed the process or outcomes of adaptation. In a meta-analysis of 87 studies on adaptation of children to chronic physical illness, including cystic fibrosis and sickle cell anemia, adjustment problems including somewhat lower self-esteem were identified with greater frequency (30).

Occasionally studies reveal that coping is ineffective at managing the stress of a genetic condition. A recent study of adaptation to vision loss among 33 adults with retinitis pigmentosa found that participants had difficulties in health care-related, vocational, social and familial domains. When compared to diabetic patients, they were more poorly adapted (31). Similarly, a study of adults with myotonic dystrophy demonstrated severely impaired adaptation (32). Adaptation is more difficult in progressive disorders as individuals have to adapt to a moving target. One may adapt to a certain state of the condition, but when it worsens it adds new stress and initiates a cyclical process.

Studies of adaptation to genetic conditions have been largely descriptive but some explore variables that predict positive outcomes. Studies of adults with cystic fibrosis and spina bifida identify effective coping strategies that result in better interpersonal relationships and social functioning (33). Studies of parents of children with cystic fibrosis, sickle cell anemia, fragile X syndrome, and “rare” disorders also identify effective coping as a predictor of relatively positive adaptation to their child’s condition (11, 12, 22). Findings generally emphasize the usefulness of emotion-focused coping for situations that cannot be altered and of task-focused coping for aspects that can be addressed (34). Collectively, these researchers call for additional studies into identification of factors that predict less adaptive outcomes to identify interventions that can enhance the process, highlighting the need for familial interventions.

Several broad conclusions can be drawn from the literature on adaptation among children, parents and families affected with genetic conditions. First, findings suggest that the disorder (severity) does not predict adaptation. While the amount of stress generated depends in part on the chronicity, lethality, and severity of the condition, there are mediators of these variables, including the ability and desire to access the cognitive resources needed to adapt. Second, while the majority of affected individuals adapt well, there are those who are less successful at coping and would benefit from interventions. Third, children’s adaptation parallels that of their parents, specifically the mother’s. Yet there is little agreement on degree of adaptation in children among informants. Parents, siblings and health care providers assess information about children’s adaptation differently. To understand adaptation in children, multiple informants need to be studied. One approach is to study adaptation within families.

Well-designed studies using newer methods such as social network models will capture the complex structure of communication and familial interactions amongst members. Findings can be used to develop interventions aimed at the less adaptive interactions.

Similar to our cautions from the literature on adaptation to chronic illness, the ways adaptation is defined and measured varies significantly among studies and limits our ability to fully understand the process or its outcomes. While most recent studies of adaptation to genetic conditions consider adaptation to be a multi-dimensional concept, studies vary in both their choice of dimensions and measurement scales, selecting from a menu of distinct measures of psychological distress, self-esteem, physical or social functioning, or general sense of well-being. Much of this work has emphasized measures of psychological distress (including symptoms of depression or anxiety), which may more appropriately be viewed as the result of more or less successful adaptation rather than as a measure of adaptation itself. If evidence-based recommendations are to be made with regard to the most effective interventions for improving adaptation, there is a clear need for a multi-dimensional outcome measure that could capture an individual’s level of adaptation to living with a genetic condition at a given time point. Based on the expanded stress and coping models, such a measure should capture both intrapersonal and interpersonal outcomes of the process, including cognitive and emotional responses to the condition as well as the condition’s impact on self-esteem, social relationships, and the search for spiritual or existential meaning.

Remaining empirical questions

The research summarized is significantly limited by its inconsistencies in conceptualizing adaptation, study design, lack of evidence-based theoretical frameworks, and in choice of outcome measures. Findings from these studies therefore are limited in their empirical and clinical implications. Concepts from evidence-based theories of adaptation should continue to be assessed and revised in well-designed studies according to their effects on adaptation. These studies of adaptation should be framed by central theories across diseases to provide consistency in understanding concepts that influence adaptation using comparable outcomes. Studies should maximize use of validated measures and minimize the social desirability of responses. The more expanded biopsychosocial model of adaptation would provide further understanding of biological indicators of stress and their role as mediators. Adaptation studies should expand beyond individual to include familial adaptation with well-designed multi-dimensional approaches such as social networks. Other models of familial adaptation expanding upon stress and coping theories will benefit from path analysis and other tests of the models themselves and the inter-relatedness of the constructs. In sum, improvements in the definitions, models, constructs, outcomes and assessments of the models of adaptation will all contribute to our understanding of this complex process.

Recommendations for health care providers

Based on the understanding that psychological adaptation to illness occurs through a dynamic process, multidimensional interventions for improving adaptation outcomes have been developed. Studies have tested the effectiveness of a clinical intervention on adaptation and largely demonstrate greater adaptation (22). Such interventions have ranged from the use of an interactive website to specific individual or group counseling sessions (35–40). Although the design and emphasis of these programs have varied depending upon the age of the target population and the nature of the targeted illness, each has attempted to have an impact in several key psychological processes suggested by the theoretical understanding of adaptation: finding meaning, fostering a sense of personal control, restoring self-esteem, and reappraising personal resources. The existing evidence suggests that these interventions are able to positively affect patient outcomes such as feelings of self-worth, depression, anxiety, and physical functioning. Although evaluations have focused on comprehensive, multi-component interventions designed to simultaneously affect more than one aspect of the adaptation process, elements of these interventions can be incorporated into routine genetics practice.

Interventions designed to assist in the process of finding meaning within the illness experience have provided structured mechanisms for patients to tell the story of their illness, either through directed writing exercises, shared video journals, or verbal processing (34, 36, 41). This experience of talking or writing about the personal journey allows individuals opportunity for cognitive restructuring that facilitates the development of meaning. By inviting patients to share their personal experiences with genetic conditions, geneticists and genetic counselors not only foster the process of finding meaning, but may also be able to help individuals to integrate the scientific explanations for illness with other causal explanations.

Geneticists may also be able to assist with patients’ needs to gain control over some aspect of the genetic condition. While the ability to control the course of the condition or even some symptoms may be limited, patients benefit from finding a sense of control in other ways (38, 39, 42, 43). Within the context of a genetics visit, the geneticist has the opportunity to strategize with the patient about controllable aspects of their condition. The provider can help the patient identify concrete ways of gaining some control, including finding information about the condition, managing what information about the condition is disclosed to others, developing positive responses to stressful situations, or making treatment and management decisions that are consistent with the patient’s goals. Patients may also benefit from brief interventions designed to enhance their feelings of self-worth (35, 38, 42, 43). Through the process of listening to the patient’s illness experience, a geneticist may be able to help identify and emphasize the patient’s personal strengths. For instance, a patient that is frustrated with a lack of athletic prowess may be redirected to focus on achievements in academics or social endeavors.

Another way in which genetics providers can promote the psychological adaptation of their patients is through assisting with the process of reappraising personal resources that may facilitate the development of active coping strategies (40, 42, 44). For example, genetics providers can help parents or adults assess their strengths in managing health-related stress. Finding examples of past successes can help individuals to identify strategies that they can apply to current or future challenges.

Although geneticists are faced with time pressures when managing each patient’s visit, the appropriately-timed use of any one of the interventions described above may facilitate a patient’s on-going process without greatly extending the length of the visit. A one-time intervention can have an effect on an individual’s adaptation as the skills presented can be effectively adopted in the absence of a long-term relationship with a patient. While many patients may also benefit from referral to more intensive multi-dimensional psychological interventions, the strategies described above can be used by genetics providers within regularly scheduled visits to help facilitate positive psychological adaptation for patients with genetic conditions and their family members.

In the rapidly evolving field of clinical genetics, more risk information and diagnoses will be shared and the need for adaptation expanded to a greater sector of the general population. The uncertain nature of new genetic risk and diagnostic information will add a layer of difficulty in achieving adaptation. Uncertainty challenges the identification of effective coping resources and interferes with positive adaptation. We can expect the adaptation process to become more difficult for those receiving genetic information that poses a threat to their health and well-being. Thus, the need for better studies and effective interventions, particularly for managing uncertainty, will be increasingly important to the future of effective clinical genetics practice.

“I believe in adaptation… But adaptation is not the same as becoming tolerant of or inured to something. Adaptation allows for creative possibilities.” Donald Rosenstein, M.D., Clinical Director, NIMH/NIH, father of a son, Kobe, who has autism (45).