Schultz Corinna L, Alderfer Melissa A, Lindell Robert B, McClain Zachary, Zelley Kristin, Nichols Kim E, Ford Carol A
Nemours Children's Health System/A.I. duPont Hospital for Children, Wilmington, DE, USA.
Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
J Genet Couns. 2018 Jun 16. doi: 10.1007/s10897-018-0267-z.
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives. Analysis utilized summary descriptive statistics and inductive qualitative content coding. Most parents (33/46; 72%) expressed beliefs that adolescence influences the importance of LFS testing and/or discussions about genetic risk. Twenty-six parents related this influence to cognitive, physical, and social changes occurring during adolescence. Aspects of adolescence perceived as promoting LFS testing/discussion included developmental appropriateness, risks of cancer in adolescence, need for medical screening decisions, influence on behaviors, transition to adult health care, and reproductive risks. Aspects of adolescence perceived as complicating LFS testing/discussions included potential negative emotional impact, misunderstanding, added burden, and negative impact on self-image or future planning. Parents recognize the complex influence that adolescence has on LFS testing and conversations surrounding results. Further research is needed to understand the actual impact of genetic testing on young people, and how to best support parents and adolescents within the broader context of heritable diseases.
李-佛美尼综合征（LFS）是一种具有高度遗传易感性的癌症综合征，可能在青春期或青年期之前或期间首次出现癌症。为子女提供LFS基因检测的家庭可以让我们了解青春期独特的发育背景如何影响父母对基因检测的看法以及对癌症风险的讨论。在这项研究中，对46名有LFS风险儿童的父母进行了半结构化访谈，以了解这些看法。分析采用了描述性统计摘要和归纳定性内容编码。大多数父母（33/46；72%）表示认为青春期会影响LFS检测的重要性和/或关于遗传风险的讨论。26名父母将这种影响与青春期发生的认知、身体和社会变化联系起来。被认为促进LFS检测/讨论的青春期方面包括发育适宜性、青春期患癌风险、医疗筛查决策的必要性、对行为的影响、向成人医疗保健的过渡以及生殖风险。被认为使LFS检测/讨论复杂化的青春期方面包括潜在的负面情绪影响、误解、额外负担以及对自我形象或未来规划的负面影响。父母认识到青春期对LFS检测以及围绕检测结果的对话具有复杂的影响。需要进一步研究以了解基因检测对年轻人的实际影响，以及如何在遗传性疾病的更广泛背景下为父母和青少年提供最佳支持。
