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首页> 外文期刊>European journal of human genetics: EJHG >Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.
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Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

机译：欧洲医学辅助复制和遗传学的当前问题：研究，临床实践，道德，法律问题和政策。 欧洲人类遗传学学会和欧洲人类繁殖与胚胎学。

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摘要

In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide an update of selected topics that have evolved since 2005.
机译：2005年3月，来自欧洲人类遗传学和欧洲人类繁殖和胚胎学会的一群专家会议，讨论了遗传和协助生殖技术（艺术）之间的界面，并发表了一个延长的背景论文，建议和两项社会。七年后，2012年3月，举行了后续跨学科研讨会，涉及两个专业社团的代表，包括欧洲联盟Eurogentest2协调行动项目的专家。本次会议的主要目标是讨论临床遗传学和艺术之间的界面的发展。随着现在认识到生殖失败的更多遗传原因，并且越来越多的患者在概念之前经过基因组测试，无论是在常规医疗保健还是在直接消费者测试的背景下，都需要遗传咨询和遗传遗传诊断（PGD）可能会增加。迄今为止，遗传遗传筛查（PGS）没有随机临床试验的证据证实，证实该技术既有效又有效。全基因组测序可能在技术和解释结构域中产生更大的挑战，并且需要进一步反映艺术和PGD / PGS的遗传检测伦理。诊断实验室应根据国际公认的认证标准（国际标准组织 - ISO 15189）报告其结果。需要进一步研究，以解决与艺术对早期胚胎的表观遗传重编程的影响有关的问题。关于辅助繁殖的法律景观正在发展，但仍然仍然是非常异质和往往的矛盾。缺乏法律协调和不育次治疗的不均衡，PGD / PGS在欧洲及以后促进了相当大的跨境生殖照顾。本文的目的是补充以前的出版物，并提供自2005年以来已经发展的选定主题的更新。

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