School of Women's and Children's Health, UNSW Sydney, Kensington, NSW, 2031, Australia.
Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, 2031, Australia.
Eur J Hum Genet. 2020 Jan;28(1):6-16. doi: 10.1038/s41431-019-0481-7. Epub 2019 Jul 30.
Genetics in paediatric oncology is becoming increasingly important in diagnostics, treatment and follow-up care. Genetic testing may offer a possibility to stratify survivors follow-up care. However, survivors' and parents' preferences and needs for genetics-related services are largely unknown. This mixed-methods study assessed genetics-related information and service needs of survivors and parents. Six hundred and twenty-two participants (404 survivors: mean age: 26.27 years; 218 parents of survivors: mean age of child: 13.05 years) completed questionnaires. Eighty-seven participants (52 survivors; 35 parents) also completed in-depth telephone interviews. We analysed data using multivariable logistic regression and qualitative thematic analyses. Thirty-six of 50 families who were offered cancer-related genetic testing chose to undergo testing. Of those not offered testing, 11% of survivors and 7.6% of parents indicated that they believed it was 'likely/very likely' that the survivor had inherited a gene fault. Twenty-nine percent of survivors and 36% of parents endorsed access to a genetics specialist as important in their care. Survivors (40.9%) and parents (43.7%) indicated an unmet need for information about genetics and childhood cancer. Parents indicated a higher unmet need for information related to the survivors' future offspring than survivors (p < 0.001). Many survivors and parents have unmet needs for genetics-related services and information. Greater access to services and information might allow survivors at high risk for late effects to detect and prevent side effects early and improve medical outcomes. Addressing families' needs and preferences during survivorship may increase satisfaction with survivorship care.
儿科肿瘤学中的遗传学在诊断、治疗和随访护理中变得越来越重要。基因检测可能为分层幸存者随访护理提供一种可能性。然而，幸存者及其父母对与遗传学相关的服务的偏好和需求在很大程度上是未知的。这项混合方法研究评估了幸存者及其父母与遗传学相关的信息和服务需求。622 名参与者（404 名幸存者：平均年龄 26.27 岁；218 名幸存者的父母：孩子的平均年龄为 13.05 岁）完成了问卷调查。87 名参与者（52 名幸存者；35 名幸存者的父母）还完成了深入的电话访谈。我们使用多变量逻辑回归和定性主题分析来分析数据。在提供癌症相关基因检测的 50 个家庭中，有 36 个家庭选择进行检测。在未接受检测的家庭中，11%的幸存者和 7.6%的父母表示，他们认为幸存者很可能/极有可能遗传了基因缺陷。29%的幸存者和 36%的父母认为获得遗传学专家的帮助对他们的治疗很重要。40.9%的幸存者和 43.7%的父母表示对遗传学和儿童癌症的信息有未满足的需求。与幸存者相比，父母表示对与幸存者未来后代相关的信息有更高的未满足需求（p<0.001）。许多幸存者和父母对与遗传学相关的服务和信息有未满足的需求。更多地获得服务和信息可能使有晚期效应风险的幸存者能够更早地发现和预防副作用，改善医疗效果。在生存期间满足家庭的需求和偏好可能会提高生存护理的满意度。
