目标:欧洲医疗辅助生殖(MAR)实践中的医疗保健专业人员对(扩展)携带者筛查((E)CS)的当前做法和看法是什么?
结论:研究结果表明,对ECS的支持有限,少于一半的受访者隶属于提供ECS的中心,以及欧洲各中心之间的实践差异很大。
背景:下一代测序的可用性,可以同时测试大量的基因,促进了ECS战略的引入和扩展,目前在辅助生殖方面特别在私营部门提供。
方法:使用在线SurveyMonkey工具设计了一项横断面调查,评估了在不同欧洲国家从事MAR实践的专业人员的实践和当前观点。基于网络的调查表包括有关MAR中(E)CS的当前实践的一般信息的问题以及有关所提供内容的问题,测试提供给谁,以及它是如何提供的。它主要由带有评论框的多项选择题组成,但也包括与(E)CS实践相关的受访者的态度/关注问题,和房间上传请求的文件(例如指南和基因面板)。总的来说,从2022年2月8日至2022年4月11日收集了338份回复。
方法:在线调查是由ESHRE中心办公室(发送的电子邮件为4889封)和欧洲人类遗传学学会(ESHG)中心办公室(发送的电子邮件为1790封)向ESHRE和ESHG成员发送的邀请电子邮件发起的,和社交媒体帖子。该调查针对欧洲MAR中心或配子银行以及位于非欧洲国家的参与欧洲体外受精监测联盟的中心。发送了两个提醒电子邮件。在排除收到的39个不完整的答复(例如,仅背景信息)后,来自40个不同国家的299名受访者被纳入分析。
结果:总体而言,42.5%(127/299)的受访者隶属于提供ECS的中心。认为有责任使准父母能够做出明智的生殖决定并防止父母遭受痛苦/负担是提供ECS的主要原因。提供ECS的中心中有近45%(39/87收到答案)提供了一个ECS面板,25.3%(22/87)的中心提供精选的ECS面板,29.9%(26/87)提供全外显子组测序和大型计算机面板。提供的ECS面板中包括不同范围的面板尺寸和条件。大多数受访者(81.8%;72/88收到答案)表示,他们提供的小组具有普遍性,针对整个人口。病原变异(89.7%;70/78收到答案),在较小程度上,可能的致病变异(64.1%;50/78收到答案),包括在ECS报告中,针对使用自己的配子进行MAR的个人和夫妇。根据87.9%(80/91收到答案)的受访者,患者必须付费接受ECS测试。大多数受访者(76.2%;61/80收到答案)报告说,在ECS测试之前和之后提供咨询。植入前基因检测,使用供体配子,产前诊断测试是与确定的携带者夫妇讨论的三种主要生殖选择。主要原因,根据受访者的说法,因为没有在他们的中心提供ECS,缺乏支持ECS的专业建议(52.5%;73/139收到答案)和夫妇的高费用或无法获得报销(49.6%;69/139)。受访者所遇到的挑战和道德困境主要围绕要约的内容展开,包括变体分类和面板的异质性,咨询,以及测试的成本。
结论:尽管受访者的总数是可以接受的,调查完成率欠佳。此外,开放式问题答案的异质性和一些答案的模糊性,除了不完整的回答,对解释调查结果提出了挑战。受访者不太容易理解一些问题,这也是合理的。出于这个原因,应答和无应答偏倚被认为是调查的进一步局限性.
结论:这项调查的结果可以帮助确定当前ECS在MAR领域的实践中的潜在挑战或需要改进的领域,并有助于讨论如何解决这些问题。结果强调,有必要激发关于在MAR中可能实施ECS的复杂性和利弊的更基于知识的辩论。
背景:与开发过程有关的所有费用均由欧洲人类生殖与胚胎学学会和欧洲人类遗传学学会基金支付。开发过程或手稿制作没有外部资金。A.C.是JunoGenetics的全职员工。L.H.宣布在过去36个月中从荷兰卫生研究与发展组织获得研究资助。她还参加了荷兰卫生委员会关于孕前携带者筛查的报告,并与VSOP荷兰遗传联盟(罕见和遗传性疾病的患者伞形组织)合作。L.H.和C.v.E.隶属于阿姆斯特丹大学医学中心,在非商业环境中提供ECS的医院。R.V.获得默克学院的演讲酬金,并且是西班牙生育协会执行委员会的无薪董事会成员。其他作者没有什么可透露的。
背景:不适用。
OBJECTIVE: What is the current practice and views on (expanded) carrier screening ((E)CS) among healthcare professionals in medically assisted reproductive (MAR) practices in Europe?
CONCLUSIONS: The findings show a limited support for ECS with less than half of the respondents affiliated to centres offering ECS, and substantial variation in practice between centres in Europe.
BACKGROUND: The availability of next-generation sequencing, which enables testing for large groups of genes simultaneously, has facilitated the introduction and expansion of ECS strategies, currently offered particularly in the private sector in the context of assisted reproduction.
METHODS: A cross-sectional survey evaluating practice and current views among professionals working in MAR practice in different European countries was designed using the online SurveyMonkey tool. The web-based questionnaire included questions on general information regarding the current practice of (E)CS in MAR and questions on what is offered, to whom the test is offered, and how it is offered. It consisted mostly of multiple-choice questions with comment boxes, but also included open questions on the respondents\' attitudes/concerns relevant to (E)CS practice, and room to upload requested files (e.g. guidelines and gene panels). In total, 338 responses were collected from 8 February 2022 to 11 April 2022.
METHODS: The online survey was launched with an invitation email from the ESHRE central office (n = 4889 emails delivered) and the European Society of Human Genetics (ESHG) central office (n = 1790 emails delivered) sent to the ESHRE and ESHG members, and by social media posts. The survey was addressed to European MAR centres or gamete banks and to centres located in non-European countries participating in the European IVF-monitoring Consortium. Two reminder emails were sent. After exclusion of 39 incomplete responses received (e.g. only background information), 299 respondents from 40 different countries were included for analyses.
RESULTS: Overall, 42.5% (127/299) of respondents were affiliated to centres offering ECS. The perceived responsibility to enable prospective parents to make informed reproductive decisions and preventing suffering/burden for parents were the main reasons to offer ECS. A single ECS panel is offered by nearly 45% (39/87 received answers) of the centres offering ECS, 25.3% (22/87) of those centres offer a selection of ECS panels, and 29.9% (26/87) offer whole exome sequencing and a large in silico panel. Different ranges of panel sizes and conditions were included in the ECS panel(s) offered. Most of the respondents (81.8%; 72/88 received answers) indicated that the panels they offer are universal and target the entire population. Pathogenic variants (89.7%; 70/78 received answers), and to a lesser extent, likely pathogenic variants (64.1%%; 50/78 received answers), were included in the ECS report for individuals and couples undergoing MAR with their own gametes. According to 87.9% (80/91 received answers) of the respondents, patients have to pay to undergo an ECS test. Most respondents (76.2%; 61/80 received answers) reported that counselling is provided before and after the ECS test. Preimplantation genetic testing, the use of donor gametes, and prenatal diagnostic testing were the three main reproductive options discussed with identified carrier couples. The main reason, according to the respondents, for not offering ECS in their centre, was the lack of professional recommendations supporting ECS (52.5%; 73/139 received answers) and the high cost for couples or reimbursement not being available (49.6%; 69/139). The challenges and moral dilemmas encountered by the respondents revolved mainly around the content of the offer, including the variants classification and the heterogeneity of the panels, the counselling, and the cost of the test.
CONCLUSIONS: Although the total number of respondents was acceptable, the completion rate of the survey was suboptimal. In addition, the heterogeneity of answers to open-ended questions and the ambiguity of some of the answers, along with incomplete responses, posed a challenge in interpreting survey results. It is also plausible that some questions were not easily understood by the respondents. For this reason, response and non-response bias are acknowledged as further limitations of the survey.
CONCLUSIONS: The results of this survey could aid in identifying potential challenges or areas for improvement in the current practice of ECS in the MAR field and contribute to the discussion on how to address them. The results underline the need to stimulate a more knowledge-based debate on the complexity and the pros and cons of a possible implementation of ECS in MAR.
BACKGROUND: All costs relating to the development process were covered from European Society of Human Reproduction and Embryology and European Society of Human Genetics funds. There was no external funding of the development process or manuscript production. A.C. is full-time employee of Juno Genetics. L.H. declared receiving a research grant during the past 36 months from the Netherlands Organisation for Health Research and Development. She has also participated in a Health Council report of the Netherlands on preconception carrier screening and collaborated with the VSOP Dutch Genetic Alliance (patient umbrella organization on rare and genetic disorders). L.H. and C.v.E. are affiliated with Amsterdam University Medical Centre, a hospital that offers ECS in a non-commercial setting. R.V. received honoraria for presentations from Merck Academy and is unpaid board member of the executive committee of the Spanish Fertility Society. The other authors had nothing to disclose.
BACKGROUND: N/A.