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首页> 外文期刊>Human Reproduction >Current issues in medically assisted reproduction and genetics in Europe: Research, clinical practice, ethics, legal issues and policy
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Current issues in medically assisted reproduction and genetics in Europe: Research, clinical practice, ethics, legal issues and policy

机译：欧洲医学辅助生殖和遗传学的当前问题：研究，临床实践，伦理，法律问题和政策

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Study question: How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? Summary answer: The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. What is known already: 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 ART and published an extended background paper, recommendations and two Editorials. Study design, size, duration: An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. Participants/materials, setting, methods: In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. Main results and the role of chance: As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs 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 (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. Limitations, reasons for caution: The legal landscape regarding assisted reproduction is evolving, but still remains very heterogeneous and often contradictory. The lack of legal harmonization and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe, and beyond. Wider implications of the findings: This continually evolving field requires communication between the clinical genetics and IVF teams and patients to ensure that they are fully informed and can make well-considered choices.
机译：研究问题：自2005年以来，遗传学与辅助生殖技术（ART）之间的界面如何演变？简要答案：随着我们对不育症遗传学的了解加深，我们能够进行更全面的基因检测，ART与遗传学之间的联系变得更加紧密。众所周知：2005年3月，来自欧洲人类遗传学会和欧洲人类生殖与胚胎学学会的专家组举行会议，讨论了遗传与ART之间的关系，并发表了扩展的背景文件，建议和两项社论。研究设计，规模，持续时间：举行了一次跨学科讲习班，来自专业协会的代表和来自欧洲联盟Eurogentest2协调行动项目的专家参加。参与者/材料，背景，方法：2012年3月，来自欧洲人类遗传学会，欧洲人类生殖与胚胎学学会和EuroGentest2协调行动项目的专家小组举行会议，讨论临床遗传学与ART之间的联系。主要结果和机会的作用：由于现在已经认识到生殖衰竭的更多遗传原因，并且越来越多的患者在受孕前接受基因组测试，无论是在常规医疗保健中还是在直接面向消费者的测试中，遗传咨询和PGD的需求可能会增加。迄今为止，植入前基因筛查（PGS）还没有来自RCT的证据来证实该技术既有效又有效。全基因组测序可能会在技术和解释领域带来更大的挑战，并且需要进一步反思ART和PGD / PGS中的基因检测伦理。诊断实验室应根据国际认可的认证标准（ISO 15189）报告其结果。为了解决与ART对早期胚胎的表观遗传重编程影响有关的问题，需要进行进一步的研究。局限性，谨慎的原因：关于辅助生殖的法律格局正在不断发展，但仍然非常不统一，并且常常是矛盾的。缺乏法律上的统一以及不孕治疗和PGD / PGS的获取不均，在欧洲及其他地区促进了相当多的跨境生殖保健。研究结果的广泛含义：这个不断发展的领域要求临床遗传学和IVF团队与患者之间进行沟通，以确保他们充分了解情况并可以做出深思熟虑的选择。

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