School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Behavioral Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
Pediatr Blood Cancer. 2019 Aug;66(8):e27762. doi: 10.1002/pbc.27762. Epub 2019 Apr 22.
Genetic testing in children for hereditary cancer predisposition syndromes (CPSs) involves unique psychosocial and family-systems considerations. This retrospective study explored the perspectives and emotional reactions of parents and young adults about cancer-related genetic counseling and testing offered to children in the family.
Families were eligible if they had considered genetic testing for a child (≤18 years) within the family. Parents and young adults ≥16 years participated in semistructured interviews that we coded and identified key themes. We also quantitively assessed emotional distress, quality of life, impact of receiving genetic cancer risk information, and service-related satisfaction.
From 35 interviews (26 parents, nine young adults), we identified themes spanning families' experiences from referral to genetic services to the longer term impact of receiving information about family cancer risk from testing of children. Supported by quantitative data, families generally described positive experiences of genetic services and reported benefits to genetic testing. Nevertheless, families faced unique emotional and relational challenges that changed over the family lifecycle. Those challenges differed according to whether the child was asymptomatic or had a cancer diagnosis at testing. Parents of children with cancer described genetic consultations as a secondary concern to the immediate stressors of their child's treatment.
We conclude that the successful integration of cancer genetics into pediatric cancer care requires specialist pediatric genetic counseling and psychosocial support services that are able to respond to families' changing needs.
遗传性癌症易感综合征（CPS）儿童的基因检测涉及独特的心理社会和家庭系统考虑因素。本回顾性研究探讨了父母和年轻人对为家庭中的儿童提供的癌症相关遗传咨询和检测的看法和情绪反应。
如果家庭考虑对孩子（≤18 岁）进行基因检测，则有资格参加。≥16 岁的父母和年轻人参加了半结构化访谈，我们对这些访谈进行了编码，并确定了关键主题。我们还定量评估了情绪困扰、生活质量、接受遗传癌症风险信息的影响以及与服务相关的满意度。
从 35 次访谈（26 位父母，9 位年轻人）中，我们确定了主题，涵盖了家庭从转介到遗传服务到从儿童基因检测中获得家庭癌症风险信息的长期影响的经验。定量数据支持家庭普遍描述了遗传服务的积极体验，并报告了基因检测的益处。然而，家庭面临着独特的情感和关系挑战，这些挑战随着家庭生命周期的变化而变化。这些挑战因孩子是否在检测时无症状或患有癌症而有所不同。有癌症患儿的父母将基因咨询描述为他们孩子治疗的直接压力之外的次要关注点。
我们得出结论，成功将癌症遗传学纳入儿科癌症护理需要专门的儿科遗传咨询和心理社会支持服务，以满足家庭不断变化的需求。
