Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer Center, Texas Children's Hospital, Houston, Texas.
Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.
Pediatr Blood Cancer. 2019 Oct;66(10):e27907. doi: 10.1002/pbc.27907. Epub 2019 Jul 11.
Cancer predisposition syndromes (CPS) are caused by germline pathogenic variants that put an individual at increased risk of developing cancer throughout their lifetime. It is estimated that approximately 10-15% of children with cancer have an underlying CPS. Although research has investigated the clinical utility of genetic testing for children diagnosed with cancer, this study aimed to gain a deeper understanding of parental attitudes toward genetic testing in this population.
Attitudes toward genetic counseling and testing among parents of children diagnosed with cancer were solicited through questionnaires distributed to a pediatric cancer clinic and online support groups. Quantitative data were analyzed using descriptive statistics and chi-square tests for association.
The majority of participants had prior knowledge of genetic counseling (64.3%), yet most were not offered genetic counseling (59.5%). Fifty percent of parents reported interest in pursuing genetic counseling/testing and 31.0% reported uncertainty. Statistically significant associations were identified between interest in genetic counseling/testing and the child's age at diagnosis, child's sex, and participant annual income (P < .05).
Parents of children diagnosed with cancer generally expressed interest in genetic counseling/testing; however, notable uncertainty was also reported. In light of this uncertainty, genetic counselors have an ideal skill set to engage families in their decision-making process as they weigh the benefits and drawbacks to pursuing genetic testing among this population. Demonstrated parental receptiveness to genomic technologies supports expansion of genetics providers in pediatric oncology care.
癌症易感综合征（CPS）是由种系致病性变异引起的，使个体一生中患癌症的风险增加。据估计，大约 10-15%的癌症儿童存在潜在的 CPS。尽管已经研究了对诊断出患有癌症的儿童进行基因检测的临床实用性，但本研究旨在更深入地了解父母对该人群中基因检测的态度。
通过向儿科癌症诊所和在线支持小组分发问卷，征求了诊断出患有癌症的儿童的父母对遗传咨询和检测的态度。使用描述性统计和卡方检验对关联进行了定量数据分析。
大多数参与者事先了解遗传咨询（64.3%），但大多数未接受遗传咨询（59.5%）。 50%的父母表示有兴趣进行遗传咨询/检测，而 31.0%表示不确定。对遗传咨询/检测的兴趣与孩子的诊断年龄、孩子的性别和参与者的年收入之间存在统计学显著关联（P<.05）。
诊断出患有癌症的儿童的父母通常对遗传咨询/检测表示感兴趣；但是，也报告了明显的不确定性。鉴于这种不确定性，遗传咨询师具有理想的技能，可以在权衡对该人群进行基因检测的利弊时，让家庭参与他们的决策过程。父母对基因组技术的接受程度表明，在儿科肿瘤学护理中扩大遗传咨询师的数量是合理的。
