Family Health Leaders: Lessons on Living with Li‐Fraumeni Syndrome across Generations

Abstract

Li-Fraumeni Syndrome (LFS) is a hereditary disorder that confers an approximately 90% lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored healthcare roles for managing LFS-related cancer risks and treatments that were assumed by parents, adolescents, and adult children. Semi-structured interviews were conducted with 23 families. Family groupings were comprised of 2-5 members, with the younger generation in each family ranging in age from 7 to 40 years. Using grounded theory methods, we conducted open and focused coding of interview transcript content. Family members described how the role of health leader was implemented in their family, as well as factors such as maturation of a child or death of a member that determined who assumed particular roles and how these roles shifted over time. They often expressed collective responsibility for helping relatives understand LFS and implement appropriate cancer risk management. Members demonstrated their health role by attending others' medical appointments for support or information gathering. The health leader role was intergenerational and provided the family necessary support in navigating complicated healthcare decisions. Our findings provide insight into healthcare providers regarding how LFS patients and their relatives develop unique medical decision-making and caring roles influenced by the hereditary nature of LFS, and how these roles change over time. Providers who are attuned to family role dynamics may be better able to meet relatives' psychosocial and medical needs by understanding how living with LFS influences the family system's functioning and facilitating members' support for each other.

Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey

“…As for further coping strategies among individuals with LFS, family structures as well as familial collective support and responsibility were detected as having an outstanding role that should be considered in the future. 32 Notably, one-quarter of individuals with LFS did not follow current surveillance guidelines. A previously described reason for nonparticipation in surveillance programs among individuals with LFS is missing insurance coverage.…”

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

“…The task of the TP53 VCEP was to specify the ACMG/AMP guidelines to assist with the clinical classification of variants in the TP53 gene. There is a rapidly growing number of individuals without personal or family history consistent with LFS who have germline TP53 variants (Batalini et al, 2019; Fortuno, James, & Spurdle, 2018), and cancer surveillance for people with TP53 pathogenic germline variants is time intensive and emotionally stressful (Ballinger et al, 2017; Kratz et al, 2017; Pantaleao et al, 2019; Villani et al, 2016; Young et al, 2019). Therefore, robust TP53 variant classification is essential for optimal clinical care.…”

Psychosocial interventions and needs among individuals and families with Li‐Fraumeni syndrome: A scoping review

“…While the emotional burdens associated with the decision to pursue TP53 testing and to undergo surveillance have been presented, the chronicity of living with LFS also contributes to psychological burden, that may include distress and heightened anxiety (e.g., general anxiety, LFS-related anxiety, cancer-specific distress). 48,50,63,64 Lammens et al, in 2010, categorized the psychosocial impact of LFS into these areas:…”

“…Intra-family communication needs were highlighted across several studies. 12,46,50,52,53,58,63,65,66 Individuals emphasized the importance of feeling supported by their family members in responding to the challenges of living with LFS, including when choosing a risk management strategy, working with providers in developing a treatment plan for a newly diagnosed cancer, and coping with complex financial and psychological burdens. Families placed great value on functioning as a team, while simultaneously acknowledging individual views.…”

“…Families placed great value on functioning as a team, while simultaneously acknowledging individual views. 63 LFS has been identified as a "family condition" with emotional and social effects between individuals in a family network. 66 In a qualitative case study with families, participants' experience with genetic testing and lack of LFSdedicated surveillance was complex and impacted by their family dynamics, including desired information preferences for adult and children, leaving a legacy, and genetic transmission.…”