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

Abstract

Li-Fraumeni syndrome (LFS), a rare cancer predisposition syndrome caused by germline mutations in the TP53 gene, is associated with significant lifetime risk of developing cancer and warrants extensive and long-term surveillance. There are psychosocial impacts on individuals and families living with this condition, from the initial diagnosis throughout multiple stages across the lifespan, but these impacts have not been systematically reviewed and organized. The objective of this scoping review was to synthesize and characterize the literature on psychosocial screening and outcomes, educational needs, support services, and available interventions for patients and families with LFS. A systematic search of six databases was most recently conducted in August 2020: (PubMed/MEDLINE (NLM), EMBASE (Elsevier), Cochrane Library (Wiley), CINAHL (EBSCO), PsycINFO (OVID), and Web of Science (Clarivate Analytics). A total of 15 757 titles were screened, and 24 articles included. Several important themes were identified across studies: factors associated with TP53 genetic testing, LFS surveillance, psychological outcomes, and communication. Findings related to these themes were organized into age-specific categories (age agnostic/across the lifespan, childhood, adolescence and young adulthood, and adulthood).

Genetic predisposition to cancers in children and adolescents

“…Although decision-making is usually conducted by their guardians, it is essential that children are included in the process, after consideration of their capacity and conditions [30][31][32]36]. Providing a space where children, especially adolescents, and parents can both express their thoughts and receive advice in the absence of their parents/children is helpful.…”

“…Surveillance can influence individuals' lives in various aspects. Frequent medical visits and travel distance can create logistical difficulties [36,53]. The cost of surveillance varies according to the healthcare system.…”

“…The cost of surveillance varies according to the healthcare system. Surveillance can also have a variety of psychological effects [36,54]. It can have positive impacts, such as the peace of mind that comes from knowing one's current health status and feeling that one is controlling cancer, but it can also cause fear or anxiety related to screening and possibility of receiving bad results.…”

Whole‐body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study

“…Thus, it is not unusual that these families have multiple affected family members simultaneously. A recently published review on several psychosocial aspects of being a TP53 carrier in surveillance identified need for psychosocial support for these families 10 . Because of the high cancer risks, the European guidelines from 2020 11 recommend surveillance with whole‐body MRI (WB‐MRI) to carriers of all ages, although in many countries, including Sweden, this has not yet been implemented in routine care.…”

“…A recently published review on several psychosocial aspects of being a TP53 carrier in surveillance identified need for psychosocial support for these families. 10 Because of the high cancer risks, the European guidelines from 2020 11 recommend surveillance with wholebody MRI (WB-MRI) to carriers of all ages, although in many countries, including Sweden, this has not yet been implemented in routine care. In the Swedish TP53 Study (SWEP53), adult carriers are offered routine surveillance with WB-MRI including MRI of the breasts and brain.…”