Identity As a Clinical Tool in Families with a Rare Genetic Cancer Syndrome: "No One's like Us Mutants"

Introduction: Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome in which individuals with a TP53 mutation experience a significantly increased risk for developing multiple cancers starting from birth. Individuals with LFS experience wide variation in their cancer course, with limited options for prevention. Given this uncertainty, the need to develop appropriate psychosocial interventions for affected individuals is imperative to mitigate or reduce distress for this vulnerable population. An LFS diagnosis can consume individuals’ lives and affect their self perception, which can lead to notable changes in engagement with healthcare, risk tolerance, and ongoing screening. This study examined the role of identity in engagement with healthcare services, multifaceted decision making over time, and meaning making of the illness experience, while carefully considering how identity intersects with stigma, coping, and family dynamics.

Methods: A total of 45 families completed one or more interviews during annual visits to a national comprehensive screening program. The protocol included: participation in genetic testing, full body MRI screenings, meetings with physician and genetic counselors, and semi-structured interviews with all family members together. An interdisciplinary team analyzed a total of 66 interviews using interpretive description and modified grounding theory. The composition of the participants varied, enabling family-level analysis of couples, siblings, and parent-child dynamics. Interviews were qualitatively coded twice to increase inter-rater reliability and results were discussed weekly during team meetings.

Findings: Participants defined identity as an evolving construct of self and/or family, embedded in ongoing experiences with LFS. Identities influenced ways participants contextualized themselves on multiple levels: personal, familial, community, and societal. Descriptions of personal identity were enacted through coping mechanisms that individuals and families used to manage the daily and multigenerational impact of LFS. Notions of individual and shared identities, including non-LFS carrier partners, guided decision making related to oncologic and reproductive health care, as well as interpersonal communication between supportive networks and families. Family identity was expressed through labeling LFS as a shared challenges, while individuals distinguished their identities from the larger group in the unique ways they categorized, stigmatized, or ascribed meaning to LFS. Over half of individual participants expressed how they embraced or rejected an LFS identity espoused by family members with TP53 mutations, which created an in-group/out-group dynamic in family groups. Such a dynamic stimulated isolating stigma and resistance to shared interpretation of LFS risk and appropriate screening.  

Conclusion/Implications: Individuals and families with LFS utilize multifaceted identities to create collective meaning and engage in shared coping behaviors through adversity. Identity reveals underlying mechanisms and attributions that individual and families employ to preserve unity during periods of intense grief and ambiguity. Analysis of identity can inform critical decision making related to genetic testing, healthcare options, parenting, and reproductive decisions. Moreover, identity can be used as a clinical tool that allows providers to examine cases from a holistic perspective to better understand how to provide effective support concerning grief, complicated family dynamics, and diverse coping strategies. Overall, viewing how identity transcends generations allows for the identification of ongoing and future LFS population needs.