Ioannou L, Massie J, Collins V, McClaren B, Delatycki M B
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Vic., Australia.
Public Health Genomics. 2010;13(7-8):449-56. doi: 10.1159/000276544. Epub 2010 Jan 14.
A population-based cystic fibrosis (CF) carrier screening program was introduced in Victoria, Australia in 2006, and was offered to couples planning a pregnancy or in early pregnancy for a fee. Individuals received pre-test advice from their doctor and through a brochure. Carriers identified received genetic counseling. The aim of this study was to assess the attitudes of people undertaking screening. Between January 2006 and June 2008 all carriers (n = 79) and a randomly selected cohort of non-carriers (n = 162) were invited to participate. A purpose-designed questionnaire explored the following domains: knowledge, recollection and meaning of carrier status, reasons for having screening, anxiety and communication of results to family members. Forty-seven carriers (62%) and 65 non-carriers (41%) returned the questionnaire. Most participants were female (97%) aged 35-39 (46%). The main reasons for choosing screening were the perception of CF as a severe condition and a doctor's recommendation. All carriers correctly recalled their carrier status and the risk of having a child with CF, while 3 non-carriers (4.7%) were unsure of their carrier status and 12 (22%) incorrectly recalled their residual risk. Carriers answered the knowledge questions correctly more often than non-carriers. There was no difference in anxiety between carriers and non-carriers. The majority of carriers informed relatives of their increased risk of being a carrier. We conclude that participants' attitude towards carrier screening for CF was generally very positive. Our model of screening could be applied on a larger scale.
2006年，澳大利亚维多利亚州引入了一项基于人群的囊性纤维化（CF）携带者筛查计划，该计划向计划怀孕或处于孕早期的夫妇收费提供。个体从医生处以及通过一本小册子获得检测前的建议。被鉴定为携带者的个体接受了遗传咨询。本研究的目的是评估进行筛查的人群的态度。在2006年1月至2008年6月期间，所有携带者（n = 79）和一组随机选择的非携带者（n = 162）被邀请参与。一份专门设计的问卷探讨了以下领域：携带者状态的知识、回忆及意义、进行筛查的原因、焦虑以及向家庭成员传达结果。47名携带者（62%）和65名非携带者（41%）返回了问卷。大多数参与者为女性（97%），年龄在35 - 39岁之间（46%）。选择筛查的主要原因是认为CF是一种严重疾病以及医生的建议。所有携带者都正确回忆起了他们的携带者状态以及生育CF患儿的风险，而3名非携带者（4.7%）不确定自己的携带者状态，12名（22%）错误地回忆了他们的残余风险。携带者比非携带者更常正确回答知识问题。携带者和非携带者在焦虑方面没有差异。大多数携带者告知了亲属他们作为携带者风险增加的情况。我们得出结论，参与者对CF携带者筛查的态度总体上非常积极。我们的筛查模式可以更大规模地应用。
