Objectives:Germline genetic testing is increasingly being integrated into pediatric oncology and a large number of families are interested. Current research on the psychological impact of germline genetic testing is limited by a main focus on individual outcomes in parents or children and little is known about its impact at the family level. Our study addresses that limitation by exploring parents’ lived experiences of how their family—as a whole—is affected by germline genetic testing for cancer predisposition.Methods:In six families who opted for germline genetic testing in the context of cancer predisposition, both parents of six ill children (five boys) with an average age of 9.67 years (SD = 3.77 years) were interviewed individually (N = 12). Germline genetic testing was performed by exome sequencing followed by analysis of a panel of childhood cancer predisposition genes in pediatric cancer patients and their parents. Their experiences were elicited through semi-structured interviews and the data were analyzed using Multi Family Member Interview Analysis. This qualitative study was conducted at Ghent University Hospital in Belgium.Results:The findings demonstrated that while germline genetic testing was generally viewed as a valuable and straightforward step in the child’s oncology trajectory, parents found it difficult to distinguish its impact from the overwhelming stressors of their child’s cancer diagnosis and treatment. However, parents recognized that the testing also significantly affected various family-level processes. Five main themes were identified: talking about germline genetic testing, being together matters (more), differences in coping with germline genetic testing between partners, feelings of guilt and mutual forgiveness, and concerns about the future health of the family.Conclusions:Given the expanded use of germline genetic testing in pediatric oncology, it is critical for clinicians to address the family-level impacts of germline genetic testing. Although families are affected by these issues, they often do not raise them due to the overwhelming challenges posed by the cancer diagnosis and treatment. Proactively addressing these themes could improve the support provided to families undergoing germline genetic testing for cancer predisposition.
目的：生殖系基因检测正日益融入儿科肿瘤学临床实践，众多家庭对此表现出浓厚兴趣。目前关于生殖系基因检测心理影响的研究存在局限，主要聚焦于父母或儿童个体层面的结果，而对其在家庭层面的影响知之甚少。本研究通过探索父母对生殖系癌症易感基因检测如何整体影响其家庭的生活体验，以弥补这一研究空白。 方法：在六组选择进行癌症易感性生殖系基因检测的家庭中，分别对六名患病儿童（五名男孩，平均年龄9.67岁，标准差3.77岁）的双亲进行单独访谈（N=12）。通过外显子组测序及儿童癌症易感基因组合分析，对儿科癌症患者及其父母进行生殖系基因检测。采用半结构化访谈收集家庭体验数据，并运用多家庭成员访谈分析法进行数据处理。本定性研究在比利时根特大学医院开展。 结果：研究发现，虽然生殖系基因检测普遍被视为儿童肿瘤诊疗过程中有价值且直接的环节，但父母难以将其影响与儿童癌症诊断和治疗带来的巨大压力区分开来。然而，父母认识到检测也显著影响着家庭层面的多个进程。研究识别出五大主题：关于生殖系基因检测的沟通、家庭共处的重要性（增强）、伴侣间应对检测的差异、愧疚感与相互宽恕、以及对家族未来健康的担忧。 结论：随着生殖系基因检测在儿科肿瘤学中的广泛应用，临床医生必须重视其对家庭层面的影响。尽管家庭受到这些问题的困扰，但由于癌症诊断和治疗带来的巨大挑战，他们往往不会主动提出。积极关注这些主题将有助于改善对接受癌症易感性生殖系基因检测家庭的支持体系。
肿瘤(癌症)患者之家