Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium.
Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium.
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DOI：
10.1097/gim.0b013e3181efdbd0
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发表时间：
2010-10
期刊：
影响因子：
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通讯作者：
Consent and Community Consultation Working Group of the eMERGE Consortium
中科院分区：
文献类型：
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作者：
Clayton EW;Smith M;Fullerton SM;Burke W;McCarty CA;Koenig BA;McGuire AL;Beskow LM;Dressler L;Lemke AA;Ramos EM;Rodriguez LL;Consent and Community Consultation Working Group of the eMERGE Consortium
基因组研究正越来越多地通过大型、多地点的财团进行。例如，电子医疗记录和基因组学(Emerge)联盟由国家人类基因组研究所资助，以评估使用来自电子医疗记录的信息以及从现有队列研究、生物信息库或残留组织或血液样本中获得的数十万个单核苷酸多态进行全基因组关联研究(GWAS)的科学可行性和潜在价值。这项实验如果成功，将使大量研究成为可能，特别是因为越来越多的医疗信息以电子方式存储，随着基因分型和测序成本的降低。然而，能够利用现有的临床信息和样本进行GWA，虽然令人兴奋，但也提出了一些伦理、法律、社会和政策问题。这类研究提出的一些问题的例子包括：如果有的话，这类研究需要什么样的同意？使用以前收集的样本可能需要在什么时候获得新的同意？美国国立卫生研究院(NIH)认识到获得如此丰富的临床和基因变异数据的价值和成本，并希望合并数据集以实现更可靠的分析，因此强烈鼓励将由NIH资助的GWA，包括Emerge数据，放置在一个名为基因型和表型数据库(DBGaP)的中央储存库中，供其他合格的研究人员使用。1患者和研究参与者应该在多大程度上能够选择不通过政府资助的数据库(如db-GAP)与更广泛的研究社区共享他们的数据？当不同的数据源被组合在一起，然后在原始机构之外共享时，调查人员或生物库管理员保护参与者利益(包括隐私)的能力必然会发生变化。鉴于这种转变，最初收集样本的人的义务是否发生了变化，如果是的话，是如何变化的？根据数据和样本是来自寻求常规护理的患者还是来自先前存在的研究项目的参与者，研究人员的义务是否应该有所不同？如果有的话，研究成果应该在什么时候归还给参与者，无论是总体的还是个人的？那附带的发现呢？社区应该在这些项目的长期监督和治理中发挥什么作用？为了解决这些和相关的问题，每个Emerge站点都需要将基因研究人员和伦理、法律和社会影响(ELSI)调查人员聚集在一起，以解决此类研究的伦理和社会挑战。在大型科学研究中加入伦理因素为跨学科的ELSI研究提供了机会，可以立即对科学创新提出的新问题做出反应，这种方法在基因组学研究中正变得越来越常见。2-4 Emerge Consortium为从事此类研究提供了一个特别丰富的环境。这五个伙伴机构正在审查不同人群的数据，这些人群在人口统计特征、招聘方式以及他们与特定研究团队和机构的关系的深度和稳定性方面存在差异(表1)。每个Emerge站点都包括研究人员，他们带来了特定的学科观点和方法来研究使用电子医疗记录中的信息对GWAs的影响(表1)。(有关每个成员站点及其研究的更多信息，请访问www.www.…。
Increasingly, genomic research is being conducted through large, multi-site consortia. For example, the Electronic Medical Records and Genomics (eMERGE) Consortium was funded by the National Human Genome Research Institute to evaluate the scientific feasibility and potential value of performing genome wide association studies (GWAS) using information from electronic medical records together with hundreds of thousands of single nucleotide polymorphisms from samples obtained in the course of existing cohort studies, biorepositories, or from residual tissue or blood samples. This experiment, if successful, will enable a vast amount of research, especially because more and more medical information is stored electronically and as the cost of genotyping and sequencing decreases. However, the ability to use existing clinical information and samples for GWAS, while exciting, raises a number of ethical, legal, social, and policy issues. Examples of some of the issues raised by this type of research include the following: What sort of consent, if any, is required for such research? When might it be necessary to obtain new consent for the use of previously collected samples? Recognizing the value and the cost of obtaining such rich clinical and genetic variation data, and the desirability of combining datasets to permit more robust analysis, the National Institutes of Health (NIH) has strongly encouraged GWAS funded by the NIH, including the eMERGE data, be placed in a central repository called the database of Genotypes and Phenotypes (dbGaP) for use by other qualified investigators. 1 To what extent should patients and research participants be able to opt out of having their data shared with the broader research community through government-sponsored databases such as db-GaP? When diverse data sources are combined and then shared beyond the originating institutions, the abilities of investigators or biorepository managers to protect participants’ interests, including privacy, necessarily change. Given this shift, do the obligations of those who originally collected samples change, and if so, how? Should investigators’ obligations differ depending on whether data and samples come from patients seeking routine care or from participants in a pre-existing research project? When, if ever, should research results, either aggregate or individual, be returned to participants? What about incidental findings? And what role should communities play in long-term oversight and governance of these projects? To address these, and related concerns, each eMERGE site was required to bring together genetic researchers and ethical, legal, and social implications (ELSI) investigators to address the ethical and social challenges of such research. Building an ethics component into large scientific studies provides an opportunity for transdisciplinary ELSI research that is immediately responsive to the emerging issues raised by scientific innovation, an approach that is becoming more common in genomics research. 2–4 The eMERGE Consortium provides a particularly rich landscape in which to pursue such research. The five partner institutions are examining data from a variety of populations that differ in their demographic characteristics, the ways they were recruited, and in the depth and stability of their relationships with the particular research team and institution (Table 1). Each eMERGE site includes investigators who bring particular disciplinary perspectives and approaches to studying the implications of using information from electronic medical records for GWAS (Table 1).(Additional information about each member site and its research can be found at www …