Bon S B B, Wouters R H P, Bakhuizen J J, van den Heuvel-Eibrink M M, Maurice-Stam H, Jongmans M C J, Grootenhuis M A
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands; Department of Psychiatry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Genet Med. 2025 Jan;27(1):101250. doi: 10.1016/j.gim.2024.101250. Epub 2024 Sep 5.
Germline DNA sequencing is increasingly used within pediatric oncology, yet parental experiences remain underexplored.
Parents of children undergoing cancer predisposition gene panel sequencing (143 genes) were surveyed before and after disclosure of results. Questionnaires assessed knowledge, expectations, worries, satisfaction, and regret. Next to descriptives, linear mixed models and generalized mixed models were utilized to explore factors associated with knowledge and worries.
Out of 325 eligible families, 310 parents (176 mothers and 128 fathers of 188 families) completed all after-consent questionnaires, whereas 260 parents (150 mothers and 110 fathers of 181 families) completed all after disclosure questionnaires. Most parents hoped their participation would benefit others, although individual hopes were also common. Sequencing-related worries were common, particularly concerning whether their child would get cancer again, cancer risks for family members and psychosocial implications of testing. Parental satisfaction after disclosure was high and regret scores were low. Lower education was associated with lower knowledge levels, whereas foreign-born parents were at increased risk of experiencing worries.
Germline sequencing of children with cancer is generally well received by their parents. However, careful genetic counseling is essential to ensure that parents are adequately informed and supported throughout the process.
种系DNA测序在儿科肿瘤学中的应用越来越广泛，但父母的经历仍未得到充分探索。
对接受癌症易感基因panel测序（143个基因）的儿童的父母在结果披露前后进行了调查。问卷评估了知识、期望、担忧、满意度和后悔程度。除了描述性统计，还使用线性混合模型和广义混合模型来探索与知识和担忧相关的因素。
在325个符合条件的家庭中，310名父母（188个家庭中的176名母亲和128名父亲）完成了所有同意后的问卷，而260名父母（181个家庭中的150名母亲和110名父亲）完成了所有结果披露后的问卷。大多数父母希望他们的参与能使他人受益，尽管个人期望也很常见。与测序相关的担忧很普遍，特别是关于他们的孩子是否会再次患癌、家庭成员的癌症风险以及检测的心理社会影响。结果披露后父母的满意度很高，后悔得分很低。较低的教育程度与较低的知识水平相关，而外国出生的父母经历担忧的风险增加。
癌症患儿的种系测序总体上受到其父母的欢迎。然而，仔细的遗传咨询对于确保父母在整个过程中得到充分的信息和支持至关重要。
