CEQA and UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Eur J Hum Genet. 2012 Sep;20(9):911-6. doi: 10.1038/ejhg.2012.56. Epub 2012 Mar 28.
The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the 'Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research.
新的基因技术的出现使得对整个人类基因组（微阵列、下一代测序）进行高效检测成为可能，这将对实验室（细胞遗传学和分子遗传学）和临床/医学遗传服务产生影响。由于所获得的信息量丰富且复杂，分析结果在其临床相关性和预测健康状况方面的解释对实验室和临床遗传学家都构成了挑战。需要讨论如何在后勤上最好地重组遗传服务，并确定遗传检测的临床实用性，以便患者可以获得适当的建议和遗传检测。为了权衡新基因技术的问题和挑战，欧洲人类遗传学协会（ESHG）于 2010 年 6 月 10 日在哥德堡举行了一系列研讨会。这是 ESHG 关于“基因检测的变化格局”卫星研讨会的一部分，由 ESHG 遗传服务质量和公共与专业政策委员会共同组织。听众由遗传学家、伦理学家、社会科学家和律师组成。在本文中，我们总结了研讨会期间的讨论，并提出了一些确定的前进方向，以改善和调整遗传服务，使患者获得准确和相关的信息。本文涵盖了伦理学、临床实用性、初级保健、遗传服务以及医疗保健和研究之间界限的模糊。
