Graduate Program in Genetic Counseling, Northwestern University, Chicago, IL, USA.
Adult Oncology, University of Illinois Chicago Hospital and Health Sciences System, Chicago, IL, USA.
J Genet Couns. 2021 Apr;30(2):533-543. doi: 10.1002/jgc4.1339. Epub 2020 Oct 18.
Pediatric brain tumor survivorship populations have not been typically offered genetic services as part of routine care. Genetic services can be defined as family history collection, genetic risk assessment for a patient and family members, and coordination of genetic testing. Prior research has focused on the integration of genetic services in the general pediatric oncology survivorship population and found a need for these services to be implemented. Gathering a family history and providing a genetic risk assessment have previously been determined to be an integral step in determining if an individual's cancer was due to a hereditary predisposition. The purpose of this study was to examine parental attitudes regarding the need for genetic services in their child's pediatric brain tumor survivorship clinic. Twelve semi-structured interviews were conducted with parents participating in the Brain STAR (Survivors Taking Action and Responsibility) program at Ann and Robert H. Lurie Children's Hospital of Chicago. A grounded theory approach was used to code and analyze the results thematically. Five key themes were identified: participants' perceived benefits and barriers regarding receiving genetic services, desirable time for implementation of these services, relevance of family history, and their thoughts regarding reproductive risk. These results provide insight for genetics professionals regarding the need for genetic services in this population, and how to best implement them.
儿科脑瘤幸存者群体通常未被纳入常规护理中提供遗传服务。遗传服务可被定义为收集家族病史、对患者及其家庭成员进行遗传风险评估以及协调遗传检测。先前的研究侧重于将遗传服务纳入一般儿科肿瘤幸存者群体，并发现需要实施这些服务。收集家族病史并提供遗传风险评估此前已被确定为确定个体癌症是否因遗传易感性所致的一个重要步骤。本研究旨在探讨父母对其儿科脑瘤幸存者诊所中子女接受遗传服务需求的态度。在芝加哥安和罗伯特·H·卢里儿童医院的“大脑之星（Survivors Taking Action and Responsibility）”计划中，对 12 名参与该计划的家长进行了半结构化访谈。采用扎根理论方法对结果进行主题编码和分析。确定了五个关键主题：参与者对接受遗传服务的感知益处和障碍、实施这些服务的理想时间、家族病史的相关性以及他们对生殖风险的看法。这些结果为遗传专业人员提供了有关该人群中遗传服务需求的深入了解，并提供了最佳实施方式。
