Respondents’ individual accounts led to development of the Awareness and Surveillance Trajectory. Awareness and interpretation of risk arise from a personal or family history of HNPCC-associated cancers, similar to families at risk for hereditary breast and ovarian cancer (HBOC) (Hamilton et al, 2008; Werner-Lin, 2007). As Hamilton and colleagues state, “…a life trajectory is a multi-dimensional description of the processes of knowing one’s risk” (2008; p. 4).
The trajectory can facilitate understanding of how experiential knowledge affects risk interpretations. Experiential knowledge arises from living with, experiencing, or knowing hereditary cancer (d'Agincourt-Canning, 2005
). Experiential knowledge of HNPCC-associated cancers affected risk interpretations and movement through the trajectory. Lack of experiential knowledge (e.g., an unknown history) might provide insight into interpretations that do not demonstrate clear links to personal or family history. Future studies could examine the influence of extensive vs. minimal family history on interpretations of risk, and the applicability of these findings beyond families at risk for rare cancer syndromes.
Individual interpretations of risk were consistently associated with screening behaviors, suggesting that they are translated into preventive action. Helping at-risk individuals link their risk interpretations, family experiences, and cancer screening behaviors could facilitate participation in cancer screening. Knowing what individuals think about their own personal risk for cancer, particularly in families without identified HNPCC mutations, could be essential to understanding their current cancer screening practices and intervening to ensure appropriate screening intervals.
Explanations of risk provide the context within which individuals interpret and reinterpret beliefs about their personal risk for cancer and associated screening strategies, as seen in the Awareness and Surveillance Trajectory. As shown in the trajectory, respondents' interpretations of their personal risk of developing cancer were consistent with their actions (i.e. surveillance strategies). Assessment of interpretation of personal or family history of disease could help clinicians understand why at-risk individuals respond in different ways to heightened risk for disease. It is essential that individuals at risk for conditions such as HNPCC have access to health care providers who can assess their interpretations of risk and current screening behaviors, then strategize to facilitate cancer screening.
Explanations of risk are important for families without known mutations for HNPCC. Mutation identification enables testing of at-risk family members and clarification of risk status, and sharing mutation information may prompt appropriate screening by at-risk family members (Hadley, et al., 2004
; Pentz, et al., 2005
). Families without known mutations cannot rely on mutation-focused discussion to emphasize increased risk for disease, but could use risk explanations to inform and educate others about HNPCC and their health screening decisions. This analysis improves our understanding of the perspective of at-risk individuals in families without identified HNPCC mutations. These results may also be relevant for families meeting Amsterdam criteria in which genetic testing is not available or pursued, or families without a significant history of cancer in which genetic testing is pursued (EGAPP Working Group, 2009
Individual and family experiences with cancer, and the context provided by these experiences, are important for understanding how people respond to risk (d'Agincourt-Canning, 2005
). Respondents discussed risk for cancer in the context of their personal and family histories of disease. Interpretations by respondents with innate explanations resulted in elevated assessments of personal risk. “Family history” served as a proxy for genetics or heredity, similar to how blood or ‘bad blood’ were proxies for heredity in families at risk for HBOC (Kenen, Ardern-Jones, & Eeles, 2003
). While genetics has different lay definitions (Skirton & Eiser, 2003
), family history is a concrete representation of risk (Bottorff, Ratner, Johnson, Lovato, & Joab, 1998
; Hamilton & Bowers, 2007
). Families with indeterminate genetic test results may focus on what is known: many family members have had cancer. Other studies demonstrated a focus on family history among families with known mutations (Cox & McKellin, 1999
; d'Agincourt-Canning, 2005
; Hamilton & Bowers, 2007
; McAllister, 2003
). Studies simultaneously exploring these conceptualizations in families with and without identified mutations would be valuable.
Findings may be limited by the relatively small sample size, the focus on a rare genetic condition, and the exclusion of mutation-positive families. Future studies including larger, more diverse samples could help determine whether these findings are more broadly applicable.
HNPCC affects men and women equally, but respondents in this study were overwhelmingly female. This may reflect patterns of family communication, or the possible role of women as kin-keepers (Koehly, et al., 2003
). Future research should endeavor to recruit an equal number of males and females, to ensure that these findings reflect the entire experience of being at risk for HNPCC in a family with indeterminate genetic test results.
Learning more about clients’ interpretations and explanations of risk would improve understanding of beliefs about family conditions and associated health behaviors (Skirton & Eiser, 2003
). Explanations provide insight into overall family health literacy and understanding of the condition in the family. In contrast, individual interpretations drive screening behaviors. Understanding how individual clients interpret their risk in the context of family history of disease, and what actions they take in response, can provide valuable tools for clarifying information about the hereditary condition and appropriate actions to minimize risk. For example, clients whose language focuses on family history may benefit from the use of similar terms in a counseling session. Following genetic counseling and/or testing, explanations could guide the development of family-focused interventions, which may be particularly useful in families without identified mutations. Explanations of risk may also be important in families that do not meet syndrome-specific criteria, but that have significant family histories of particular health conditions. Clarifying risk status in the absence of an identified mutation is an important component of care for families without identified mutations.
Genetic mutations are often assumed to cause conditions that run in families, such as HNPCC. However, at-risk individuals in families without identified genetic mutations demonstrate a broad range of interpretations of personal risk, responses to interpretations, and explanations of the cancer in their families. Understanding how individuals make sense of their family histories in the absence of identified genetic mutations can facilitate appropriate guidance. These findings add to the limited literature on families without identified HNPCC mutations, and could facilitate examination of interpretation of risk information in families at risk for other conditions.