Dipartimento di Scienze Mediche e Chirurgiche: Centro di Ricerca sui Tumori Ereditari, Università di Bologna & UO Genetica Medica, Azienda Ospedaliero-Universitaria di Bologna Policlinico S.Orsola-Malpighi, Bologna, Italy.
School of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
Eur J Hum Genet. 2019 Feb;27(2):291-299. doi: 10.1038/s41431-018-0262-8. Epub 2018 Oct 4.
Presymptomatic testing for hereditary cancer syndromes should involve a considered choice. This may be particularly challenging when testing is undertaken in early adulthood. With the aim of exploring the psychosocial implications of presymptomatic testing for hereditary cancer in young adults and their parents, a cross-sectional survey was designed. Two questionnaires were developed (one for young adults who had considered presymptomatic testing, one for parents). Questionnaires were completed by 152 (65.2%) young adults and 42 (73.7%) parents. Data were analysed using descriptive statistics, inferential testing, and exploratory factor analysis and linear regression analysis. Young adults were told about their potential genetic risk at a mean age of 20 years; in most cases, information was given by a parent, often in an unplanned conversation. Although testing requests were usually made by young adults, the majority of parents felt they had control over the young adult's decision and all felt their children should be tested. Results suggest that some young adults did not understand the implications of the genetic test but complied with parental pressure. Counselling approaches for presymptomatic testing may require modification both for young adults and their parents. Those offering testing need to be aware of the complex pressures that young adults can experience, which can influence their autonomous choices. It is therefore important to emphasise to both parents and young adults that, although testing can bring benefits in terms of surveillance and prevention, young adults have a choice.
遗传性癌症综合征的症状前检测应涉及慎重的选择。当在成年早期进行检测时，这可能特别具有挑战性。本研究旨在探讨年轻成年人及其父母对遗传性癌症症状前检测的心理社会影响，设计了一项横断面调查。开发了两份问卷（一份用于考虑症状前检测的年轻成年人，一份用于父母）。共有 152 名（65.2%）年轻成年人和 42 名（73.7%）父母完成了问卷。使用描述性统计、推断测试、探索性因素分析和线性回归分析对数据进行了分析。年轻成年人在平均 20 岁时被告知他们的潜在遗传风险；在大多数情况下，信息由父母提供，通常是在未经计划的对话中。尽管检测请求通常由年轻成年人提出，但大多数父母认为他们可以控制年轻成年人的决定，并且所有人都认为他们的孩子应该接受检测。结果表明，一些年轻成年人不理解基因检测的含义，但会顺从父母的压力。症状前检测的咨询方法可能需要同时为年轻成年人及其父母进行修改。提供检测的人需要意识到年轻成年人可能会面临的复杂压力，这些压力会影响他们的自主选择。因此，向父母和年轻成年人强调，尽管检测可以在监测和预防方面带来好处，但年轻成年人有选择的权利非常重要。
