Genet Med. 2024 Jun 25:101197. doi: 10.1016/j.gim.2024.101197. Online ahead of print.
ABSTRACT
PURPOSE: Germline testing in pediatric cancer presents opportunities and challenges. Understanding family perspectives, experiences, and preferences will optimize integration into routine care.
METHODS: Following PRISMA guidelines, we searched four databases for studies exploring perspectives, experiences, and preferences of parents/caregivers and/or patients regarding germline testing of children with cancer. Qualitative and quantitative data was extracted, organized, and summarized by research question and themes.
RESULTS: We identified 2286 unique articles, of which 24 were included. Interest in and uptake of testing was high. Families were motivated by altruism and a desire for inheritance/causation information. Testing barriers included psychological concerns, timing of the testing approach if offered at diagnosis or in a high-risk cancer setting and privacy/discrimination. Testing experiences highlighted challenges yet also positive impacts, with results providing psychological relief and informing proactive decision-making. Timing preferences varied, however allowing time to adjust to a new diagnosis was a common theme. Most wanted to receive as many germline sequencing-related results as possible.
CONCLUSION: Findings underscore the importance of integrating germline analyses into pediatric cancer care with flexibility and support for families facing challenges. Where possible, consent should be provided at a time that suits each family’s situation with access to information aligning with their needs and preferences.
PROSPERO: CRD42023444890.
PMID:38943478 | DOI:10.1016/j.gim.2024.101197
