Van Hoyweghen Sophie, Claes Kathleen B M, de Putter Robin, Wakefield Claire E, Van Poucke Marie, Van Schoors Marieke, Hellemans Sabine, Verhofstadt Lesley
Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
Department of Experimental-Clinical and Health Psychology, Faculty of Psychology and Educational Sciences, Ghent University, 9000 Ghent, Belgium.
Cancers (Basel). 2025 Feb 4;17(3):517. doi: 10.3390/cancers17030517.
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. 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. 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. 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.
种系基因检测越来越多地被纳入儿科肿瘤学领域，许多家庭对此感兴趣。目前关于种系基因检测心理影响的研究主要局限于关注父母或孩子的个体结果，而对其在家庭层面的影响知之甚少。我们的研究通过探讨父母在种系基因检测癌症易感性方面，其整个家庭是如何受到影响的生活经历，解决了这一局限性。在六个因癌症易感性而选择种系基因检测的家庭中，对六个患病儿童（五个男孩）的父母进行了单独访谈（N = 12），这些患病儿童平均年龄为9.67岁（标准差 = 3.77岁）。通过外显子组测序进行种系基因检测，随后对儿科癌症患者及其父母的一组儿童癌症易感性基因进行分析。通过半结构化访谈引出他们的经历，并使用多家庭成员访谈分析法对数据进行分析。这项定性研究在比利时根特大学医院进行。研究结果表明，虽然种系基因检测通常被视为儿童肿瘤治疗过程中有价值且直接的一步，但父母发现很难将其影响与孩子癌症诊断和治疗带来的巨大压力源区分开来。然而，父母认识到检测也显著影响了家庭层面的各种过程。确定了五个主要主题：谈论种系基因检测、在一起更重要、伴侣应对种系基因检测的差异、内疚感与相互原谅、以及对家庭未来健康的担忧。鉴于种系基因检测在儿科肿瘤学中的广泛应用，临床医生了解种系基因检测对家庭层面的影响至关重要。虽然家庭受到这些问题的影响，但由于癌症诊断和治疗带来的巨大挑战，他们往往不会提出这些问题。积极解决这些主题可以改善对接受种系基因检测癌症易感性的家庭的支持。
