Psychosocial burdens and unmet supportive care needs of partners and relatives of individuals with Li‐Fraumeni syndrome: A mixed‐methods study

Li-Fraumeni syndrome (LFS) is a rare but highly penetrant cancer predisposition syndrome caused by pathogenic variants in the tumor suppressor gene TP53. Individuals diagnosed with LFS should adhere to intense surveillance programs for early tumor detection. The literature highlights several psychosocial challenges for this group. However, the scarce and mainly qualitative research on LFS families suggests that people close to individuals with LFS (e.g., partners, spouses, kin, friends) are likely also burdened by this condition. Therefore, the aim of our study was to assess their unmet supportive care needs (uSCN) as well as the psychosocial burdens and challenges they face. For this convergent mixed-methods study, first, we used validated questionnaires: the Supportive Care Needs Survey for Partners and Caregivers (SCNS P&C) to assess uSCN; the short form of the Fear of Progression questionnaire for partners (FoP-Q-SF/P); the distress thermometer (distress of last week on a scale from 0 to 10), and the corresponding problem list. Descriptive statistics were used to analyze quantitative data from a total of 43 participants. The majority reported clinically relevant levels of distress (70%) and fear of progression (56%). With respect to uSCN, "health-care services and information needs" and "emotional and psychological needs" were the most relevant. "Feelings about death" was the item that was reported as unmet the most (69%). Second, we conducted additional semi-structured telephone interviews on unmet needs and challenges with 19 of our participants, which we transcribed and analyzed via content analysis. Interviewees reported high involvement in organizing and managing life around LFS, with "emotional and problem-focused coping" strategies. Our study reveals numerous informational and emotional burdens and uSCN in partners and relatives of individuals with LFS. A familial or systemic approach to genetic counseling and health care may be beneficial for improving the well-being of individuals who are directly and indirectly affected by LFS.