Hetherington Kate, Wakefield Claire E, McGill Brittany C, Tucker Katherine M, Donoghoe Mark W, Daly Rebecca, Hunter Jacqueline D, Ballinger Mandy, Fuentes-Bolanos Noemi A, Ziegler David S
Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales, Australia.
School of Clinical Medicine, Discipline of Paediatrics, UNSW Medicine and Health, UNSW Sydney, Kensington, New South Wales, Australia.
Neurooncol Adv. 2024 Jul 31;6(1):vdae133. doi: 10.1093/noajnl/vdae133. eCollection 2024 Jan-Dec.
Advances in our understanding of the genetic basis of childhood cancer, including primary central nervous system cancers, are improving the diagnosis, treatment, and clinical management of pediatric patients. To effectively translate scientific breakthroughs into enhanced clinical care, it is essential we understand and learn from the experiences of patients, families, and health professionals.
This report summarizes findings from 4 Australian psychosocial substudies exploring the perspectives of patients, parents, clinicians, and scientists participating in research related to childhood cancer genetics. Specifically, these studies focus on the psychosocial impact of germline testing in children, surveillance for children with a cancer predisposition syndrome and the perspectives of healthcare professionals who deliver this testing and surveillance.
Data presented highlight some of the opportunities and challenges associated with the changing context of genetic predisposition testing for children, adolescents and yound adults with cancer and illustrate how embedding psychosocial data collection in clinical research can answer important questions in the field and inform the design of patient-centric models of care, resources, and workforce training.
By embracing these perspectives, we can ensure that advances in genetic research translate into enhanced family experiences, and, ultimately, improved outcomes for children and young people with cancer, and their families.
我们对儿童癌症（包括原发性中枢神经系统癌症）遗传基础的理解取得了进展，这正在改善儿科患者的诊断、治疗和临床管理。为了有效地将科学突破转化为更好的临床护理，我们必须了解并借鉴患者、家庭和医疗专业人员的经验。
本报告总结了4项澳大利亚社会心理子研究的结果，这些研究探讨了参与儿童癌症遗传学相关研究的患者、父母、临床医生和科学家的观点。具体而言，这些研究关注儿童种系检测的社会心理影响、对患有癌症易感性综合征儿童的监测，以及提供此类检测和监测的医疗专业人员的观点。
所呈现的数据突出了与儿童、青少年和年轻癌症患者遗传易感性检测背景变化相关的一些机遇和挑战，并说明了将社会心理数据收集纳入临床研究如何能够回答该领域的重要问题，并为以患者为中心的护理模式、资源和劳动力培训设计提供信息。
通过接受这些观点，我们可以确保遗传研究的进展转化为更好的家庭体验，并最终改善癌症儿童和年轻人及其家庭的结局。
