Health professionals’ practice for young people with, or at risk of, Li–Fraumeni syndrome: An Australasian survey

Abstract

Li-Fraumeni syndrome (LFS), a rare cancer syndrome caused by pathogenic germline variants in TP53, has serious implications for adolescents and young adults (AYAs; aged 15-39 years). The early-onset and multi-organ cancer risk associated with LFS means health professionals must concurrently contend with the developmental needs of individuals who are diagnosed from a young age, and recent changes in practice due to advances in whole-body cancer surveillance. To help understand how current practice meets the developmental needs of AYAs with, or at risk of, LFS, we conducted a national online survey to explore the experiences of health professionals who care for this population in Australia and New Zealand. Forty-three respondents completed the survey (56% genetic counselors), one-third of whom had facilitated predictive TP53 testing for minors (n = 14/43, 33%). In hypothetical scenarios describing 15-year-olds eligible for predictive TP53 testing, respondents were more supportive of testing for emotionally mature compared to immature minors (p = .009); and more supportive of adolescent wishes compared to parental wishes for testing (p = .020) when families held discordant views on testing. Genetic health professionals were more likely than oncology health professionals to address psychological (p = .017) and information needs about reproductive options for LFS during consultations than to refer them on (p = .004). All respondents supported comprehensive risk management for LFS, but noted important medical, logistical, and psychosocial limitations for AYAs. This study offers valuable insight into developmentally appropriate practices of Australasian health professionals who care for AYAs with, or at risk of, LFS. These findings suggest they may foster the autonomy of minors undergoing predictive TP53 genetic testing and be supportive of new whole-body risk management guidelines. K E Y W O R D S adolescent and young adult, counseling techniques, health professionals, Li-Fraumeni syndrome, practice, predictive genetic testing, psychosocial, referral practices, risk management, survey, workforce 1 | INTRODUC TI ON Adolescents and young adults (AYAs; aged 15-39 years) represent a unique cohort in health settings. The AYA years represent a significant transitional life stage characterized by physical and cognitive maturation, identity exploration, growing independence from family, social role transitions, forming long-term partnerships, and

How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? “With Li‐Fraumeni syndrome, it’s just an intermission”

“…This research was conducted at the National Cancer Institute with a largely homogenous population of young adults who were mostly white, highly educated, and engaged in research. All participants had access to specialist care for LFS, which is unavailable in most oncology settings 35 . Data were collected during the COVID‐19 pandemic; the long‐term impact of the pandemic on hereditary cancer care remains unclear.…”

“…All participants had access to specialist care for LFS, which is unavailable in most oncology settings. 35 Data were collected during the COVID-19 pandemic; the long-term impact of the pandemic on hereditary cancer care remains unclear.…”

Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome

“…This analysis is nested in a larger qualitative interview study exploring young people’s experiences of LFS in Australia (Forbes Shepherd, 2020). This project was informed by interpretive description, a common methodology used to inductively develop qualitative findings relevant for clinical practice (Thorne et al, 1997), in this case genetic counseling practice.…”

“…The bulk of the cancer risk associated with LFS manifests early in life, with up to 50% of individuals with LFS developing cancer by age 30, and nearly 100% by age 70, during which time developing multiple cancers is likely (Mai et al, 2016). As a result, young people (aged 15–39 years) with LFS traverse their formative years of development negotiating complex and significant life decisions about genetic testing, cancer treatment and risk management, risk reduction (for women), and reproduction (Forbes Shepherd, 2020, 2021; Forbes Shepherd et al, 2020).…”