Lynch syndrome (LS) is an autosomal dominant disease characterized by the development of colorectal (CRC) and extracolonic cancers (Stuckless et al. 2007). Individuals living with LS may be faced with cancer onset in themselves and other family members, lifelong cancer screening, extensive treatment regimes and early deaths of family members. Confirmation of LS through predictive genetic testing can bring a lifetime of uncertainty to an entire family as members adjust to living with an indeterminate or evolving disease state. The research base on how individuals and families adjust to genetic-linked diseases following predictive genetic testing has increased our understanding of short-term impacts but gaps continue to exist in knowledge of important factors that facilitate or impede long-term adjustment.

In studies focusing on the impact of genetic-based diseases, the adjustment construct assumes many forms. Psychological/psychosocial adjustment is used interchangeably with psychological/psychosocial functioning, impact, distress, consequences and outcomes, among others. What is evident from a review of the scientific literature is a lack of consensus on how psychological adjustment is defined and operationalized (Wechsler & Sanchez-Iglesias 2012).

Quantitative studies that focus on hereditary cancer have primarily assessed short-term psychological functioning (i.e., cancer specific distress, anxiety, and depression) by using such standardized scales as the State-Trait Anxiety Inventory (Aktan-Collan et al. 2001; Claes et al. 2004; Collins et al. 2007; Esplen et al. 2001; Esplen et al. 2003; Esplen et al. 2007; Meiser et al. 2004), Impact of Events Scale (Aktan-Collan et al. 2001; Collins et al. 2007; Esplen et al. 2001; Esplen et al. 2003; Esplen et al. 2007; den Heijer et al. 2011), Hospital Anxiety and Depression Scale (Collins et al. 2007; Meiser et al. 2004; den Heijer et al. 2011), and the Center for Epidemiologic Studies for Depression Scale (Esplen et al. 2001; Esplen et al. 2003; Esplen et al. 2007). The evidence suggests that individuals who are part of LS families are not distressed (intrusive thoughts about cancer, anxiety and depression) in the short-term post-genetic testing. Prospective studies monitoring changes in psychological functioning during genetic testing show slight elevations in carriers distress levels immediately post-testing which return to baseline levels within a year, but decrease immediately for non-carriers and remain relatively stable over time (Aktan-Collan et al. 2001; Claes et al. 2004; Esplen et al. 2001; Murakami et al. 2004). Investigations of impact for longer periods revealed no differences in psychosocial outcomes between carriers and non-carriers at three (Collins et al. 2007; Foster et al. 2007) or five years post-testing (van Oostrom et al. 2003). The conclusion of meta-analyses and literature reviews is that genetic testing for hereditary cancer causes minimal psychological consequences (Bleiker et al. 2003; Braithwaite et al. 2006; Heshka et al. 2008; Meiser 2005).

There is additional support from the literature that a small, but significant, group of individuals experience adjustment problems and may be classified as having borderline distress (Esplen et al. 2007; van Oostrom et al. 2003; Heshka et al. 2008; Meiser 2005). Problems with psychological functioning may negatively impact long-term adjustment, particularly adherence to recommended screening protocols crucial for the prevention and early detection of cancer. Importantly, the evidence suggests that individuals with greater social supports and who belong to families with open communication are more likely to follow recommended protocols (Johnson et al. 2002; Keller et al. 2002; McCann et al. 2009), have less psychosocial distress (Claes et al. 2005; Loader et al. 2002; van Oostrom et al. 2007) and adjust better over the long-term (den Heijer et al. 2011).

With the sensitivity and specificity of standardized scales for detecting and monitoring psychosocial adjustment in this population questioned (Claes et al. 2004; Bleiker et al. 2003), Read, Perry and Duffy (Read et al. 2005) developed the Psychological Adaptation to Genetic Diseases (PAGIS) scale to evaluate the efficacy of genetic counseling and identify individuals requiring additional support. These researchers propose that psychological adaptation to genetic information is a multidimensional phenomenon comprised of non-intrusiveness, support, self-worth, certainty and self-efficacy. While the PAGIS demonstrated acceptable internal consistency and content validity in preliminary testing, there is no further reference to its use in subsequent studies. The Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire (Cella et al. 2002) was developed to measure positive and negative responses to genetic testing for cancer. The MICRA was initially validated among women at risk for breast cancer but, to our knowledge, has not been used in subsequent studies. Despite these disease-specific scales, there is no empirical evidence suggesting that they are capable of monitoring how well individuals adjust to genetic-based diseases in the short-and long-term (Biesecker & Erby 2008).

Critical appraisal of the research evidence on adjustment challenges for LS families from studies using quantitative versus qualitative methodologies can lead to very different conclusions. Reliance on qualitative methods helps researchers identify areas of psychosocial impact that have implications for affective and behavioral outcomes. The evidence suggests that certain individuals have difficulty adjusting in the short- and long-term following confirmation of hereditary cancer (Bartuma et al. 2012; Carlsson & Nilbert 2007; Stermer et al. 2004; Watkins et al. 2011; Hamilton et al. 2009), feel burdened about communicating genetic risk information to family members (Hamilton et al. 2009), worry about cancer risk in others (Bartuma et al. 2012; Carlsson & Nilbert 2007), perceive that health care system supports post-genetic testing are inadequate (Stermer et al. 2004; Watkins et al. 2011), struggle to adhere to recommended screening protocols (Stermer et al. 2004; Watkins et al. 2011) and experience difficulty in coping with cancer in the self/others (Carlsson & Nilbert 2007).

Following the 2004 survey, our research team designed a grounded theory study to explore the meaning of genetic testing for individuals (n = 39) in LS families and develop a greater understanding of psychosocial and behavioral impacts for confirmed carriers and non-carriers. Data collection spanned the years 2004 to 2007. Purposive samples were recruited from 15 family groupings: a) 2004 survey respondents with an interest in further research (n = 22), b) additional individuals from families with the intron 5 splice site mutation to augment evolving family, carrier/non-carrier or affected/non-affected themes (n =10) and, c) individuals from families with the more recently identified exon 8 deletion to ensure comparability of experiences with intron 5 splice site mutation families (n = 7). Details on the sample and data analysis have been described elsewhere (Watkins et al. 2011). Semi-structured schedules guided data collection via face-to face interviews. A second interview confirmed the interpretive summaries constructed from each transcript, augmented gaps in the data and corroborated conceptual categories and properties. Table 1 summarizes study objectives, methods and key findings.

The conceptual model “Confronting and Accepting the Challenges of Living in Families with Genetic-Linked Diseases” emerged from analysis of the qualitative data. The model broadly conjectures that the situational and experiential contexts are important forces influencing how well individuals accept the hereditary link to cancer, are motivated to become involved in genetic testing, and adjust to living with a confirmed presence of LS in the family in the short- and long-term. The struggling to adjust construct focuses on psychosocial and behavioral adjustment in LS families. The findings suggest that while most individuals acknowledge the importance of knowing about their cancer risk, some are burdened by having to manage LS over time (i.e., struggle to adhere to recommended screening) and having to deal with cancer episodes in the self and/or others. Importantly, the impact of LS is not limited to carriers but extends to all family members. Family functioning and openness of communications seem critical in helping individuals deal with the ongoing challenges. Finally, the findings provide further support for the premise that some individuals in these families experience difficulty adjusting in the short- and long-term and, at times, struggle to effectively manage their disease.

Based on the research literature and quantitative and qualitative findings from the two projects conducted by the research team, it was concluded that reliable and valid clinical tools capable of identifying subgroups of individuals, as well as their families, who may be at-risk for psychosocial and emotional challenges post-genetic testing are needed for use in genetics clinics. Monitoring tools are needed to assess adjustment to LS (i.e., positive affect and well-being, motivation to follow recommended protocols and modify health behaviors, and the buffering impact of supports). It was also evident from the literature and our findings that health care providers tend to not only have limited insight into the extent of individual and family burden posed by genetic-based diseases but also fail to understand the level of support that might be needed to mitigate long-term effects.

In summary, emphasis on short-term outcomes, without thorough consideration of the social and familial contexts, can limit our understanding of long-term psychosocial adjustment. We argue that adjustment to hereditary cancer is broader than psychological outcomes and is an evolving process that ebbs and flows in response to changing personal and family experiences in the management of long-term cancer risk and emergence of cancer in the self and/or others. Personal and/or family experiences can facilitate or impede adjustment.

The study was conducted in three phases. Phase I consisted of item generation and refinement. Phase II consisted of a pilot study designed to generate data for preliminary assessment of the psychometric properties of the PAHD scale. Phase III was designed to generate additional data to facilitate final item selection and initial scale validation.

The PAHD scale was the outcome of a program of research that relied on survey and qualitative methods to inform the research team about psychosocial adjustment challenges in LS families. The scale was developed from content defining the struggling to adjust construct of a theoretical model generated from grounded theory. A four-member research team developed the scale by generating a large set of potential items, refining the items, and validating item content using experts and individuals from families with hereditary cancer.

By developing the PAHD from a qualitative data base, the content is steeped in the personal experiences of individuals from families with hereditary cancer. Various authors argue that instrument item-content generated from qualitative data is more likely to capture the experiences of targeted groups (Coyle & Williams 2000; McAllister 2001). It is also argued that clinical tools developed in this manner have better content and face validity and excellent psychometric properties (Gilgun 2004).

The current study provides initial evidence to support the psychometric properties of the PAHD scale. The pilot study supported the relevancy of item content and logic of the two subscale structure. Application of the MAP-R to findings from the larger sample suggests that the PAHD has acceptable internal consistency reliability, item-convergent validity and item-discriminant validity (Ware et al. 1997). Intrascale correlations compared with scale Cronbach’s alphas indicate that the two subscales (BK and FC) of the PAHD are measuring distinct but interrelated concepts.

The BK scale is intended to capture the subjective perception of individual and family burden from knowing about the presence of LS in the family. The mean BK score suggests that participants, on average, reported experiencing a little to moderate burden. Although no significant differences were observed for carrier and affected status or time since genetic testing, women tended to report higher levels of burden than men. Despite the limited insight from existing literature on the depth and scope of the long-term struggles of individuals living within LS families, several authors acknowledge that their complexity is shaped by the interaction of experiential cancer-based knowledge from the past and present as well as individual coping styles (Bleiker et al. 2003; McAllister 2001; d’Agincourt-Canning 2005; Kenen et al. 2003; McAllister 2002; Rolland & Williams 2005). Results from the current study support previous qualitative findings that a subgroup of individuals experience psychosocial distress in the long-term following confirmation of hereditary cancer (Watkins et al. 2011; Hamilton et al. 2009).

The second subscale, FC, is intended to capture the importance of having access to resources and family supports in sharing the burden and challenges of hereditary cancer. The mean score suggests that respondents, on average, gave high ratings to the presence of supportive family structures. Again study findings did not vary based on carrier and affected status or time since genetic testing, but women tended to value family supports more than men.

The low to moderate correlation between the two subscales support the multidimensional nature of the PAHD scale. Given that the correlations between the two scales of the PAHD are less than their reliability coefficients, there is evidence of unique reliable variance measured by each scale. A major premise of the model from which the PAHD was developed is that living in families characterized by open, supportive relationships facilitates psychosocial and emotional adjustment and decreases the burden associated with the presence of hereditary cancer. Therefore, it was expected that the subscales of the PAHD would correlate well with each other.

The findings suggest that individuals with more perceived support from family and friends tended to be less burdened from dealing with the challenges posed by hereditary cancer in the family. The value of the strength and stability of family support systems for facilitating positive coping and adjustment at the individual and family level is receiving increased attention in the research literature on genetic-based diseases (van Oostrom et al. 2003; McAllister 2001; Kenen et al. 2003; Rolland & Williams 2005).

The results of these analyses provide support for the uniqueness of the PAHD subscales and add further credence to its validity. Future studies are needed to determine the scale’s potential for monitoring the long-term psychosocial adjustment.

The use of qualitative data to develop the PAHD has produced a scale that is steeped in the experiences of individuals and families with hereditary cancer. Initial testing suggests that the scale is psychometrically sound and capable of assessing psychosocial adjustment. Although study results support other findings reported in the literature, the PAHD scale is unique in that it is specific to hereditary cancer. As a clinical monitoring tool for use following genetic testing, it has the potential to identify those who are experiencing psychosocial challenges and who may require additional support for optimal adjustment.

The PAHD scale has been adapted and is being piloted in a second population with hereditary disease. A focus of this pilot is to examine the psychosocial impact of arrhythmogenic right ventricular cardiomyopathy (ARVC) on individuals and families post-genetic testing. The next stage of research for the project team will focus on implementing the PAHD scale in Community Familial Cancer Genetics Clinics throughout Newfoundland and Labrador.

Psychosocial Adjustment to Hereditary Diseases (PAHD) Scale.