In July 2023, the American Association for Cancer Research held the second Childhood Cancer Predisposition Workshop at which international experts in pediatric cancer predisposition met to update the previously published 2017 consensus statements on pediatric cancer predisposition syndromes. Since 2017, advances in tumor and germline genetic testing and increased understanding of cancer predisposition in pediatric cancer patients have led to significant changes in clinical care. Here, we provide an updated genetic counseling framework for pediatric oncology professionals. The framework includes: (1) referral indications and timing; (2) somatic and germline genetic testing options; (3) testing for adult-onset cancer predisposition syndromes in children with and without cancer; (4) evolving genetic counseling models to meet the increased demand for genetic testing; (5) barriers to cancer genetic testing and surveillance in children; and (6) psychosocial and equity considerations regarding cancer genetic testing and surveillance in children. Adaptable genetic counseling services are needed to provide support to pediatric oncology provider teams and diverse patients with pediatric cancer, cancer predisposition, and their families.

中文翻译：

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儿科癌症易感性评估和监测的遗传咨询师实践和建议的更新


2023年7月，美国癌症研究协会举办了第二届儿童癌症易感性研讨会，国际儿科癌症易感性专家齐聚一堂，更新了此前发布的2017年儿童癌症易感性综合征共识声明。自 2017 年以来，肿瘤和种系基因检测的进步以及对儿科癌症患者癌症易感性的了解不断加深，导致临床护理发生了重大变化。在这里，我们为儿科肿瘤专业人士提供更新的遗传咨询框架。该框架包括： (1) 转诊指示和时间安排； (2) 体细胞和种系基因检测选项； (3) 对患有和未患有癌症的儿童进行成人发病的癌症易感综合症检测； (4)不断发展遗传咨询模式，以满足日益增长的基因检测需求； (5) 儿童癌症基因检测和监测的障碍； (6) 关于儿童癌症基因检测和监测的社会心理和公平考虑。需要适应性强的遗传咨询服务来为儿科肿瘤提供者团队和患有儿科癌症、癌症易感性的不同患者及其家人提供支持。