Holtkamp Kim C A, Henneman Lidewij, Gille Johan J P, Meijers-Heijboer Hanne, Cornel Martina C, Lakeman Phillis
Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.
Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
J Community Genet. 2019 Apr;10(2):249-257. doi: 10.1007/s12687-018-0388-y. Epub 2018 Sep 18.
A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower than expected. Forty-four tests have been requested, partly by couples with a positive family history for CF, which was not the intended target group. Users were generally positive about the screening offer, citing accessibility, ease of testing, anonymity, and perceived shortcomings of regular healthcare as reasons for requesting screening. DTC CF carrier screening via a university hospital website is feasible, but is seldom used. Considering technological advances, continuation of this specific offer is questionable.
2010年，一家荷兰大学医院开始通过其网站直接向消费者提供囊性纤维化（CF）携带者筛查服务。为此进行了一项为期6年的过程评估，以评估该项服务。筛查按计划实施。然而，接受度低于预期。已收到44项检测请求，部分来自有CF家族病史的夫妇，而他们并非预期的目标群体。用户对筛查服务总体持积极态度，将可及性、检测便捷性、匿名性以及常规医疗保健的明显不足作为请求筛查的理由。通过大学医院网站进行直接面向消费者的CF携带者筛查是可行的，但很少有人使用。鉴于技术进步，继续提供这项特定服务存在疑问。
