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遗传咨询师作为精准医学时代的社会和行为科学家。

Genetic counselors as social and behavioral scientists in the era of precision medicine.

机构信息

Research Triangle Institute International, Washington, District of Columbia.

出版信息

Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):10-14. doi: 10.1002/ajmg.c.31609.

Abstract

In the era of precision medicine, translating genomics into clinical care will involve answering key questions in social and behavioral research. The scope of this research addresses assessing how clients perceive and use genomic information, and how effectively genetic counseling is meeting clients' needs. Outcomes are central to enhancing practice effectiveness, improving patient outcomes, and informing cost effective services to address workforce challenges. While genetic counseling is generally thought of as a clinical practice, genetic counselors contribute to research in several ways. Counselors are actively involved in interpretation of sequence data, collaborate in clinical research teams, and serve as lead investigators. This commentary highlights genetic counselors as social and behavioral scientists and reviews evidence generated by genetic counselors, describes advanced training in research, and posits key social and behavioral research questions for genetic counseling in translating genomic science in the era of precision medicine.

摘要

在精准医学时代,将基因组学转化为临床护理将涉及回答社会和行为研究中的关键问题。这项研究的范围包括评估客户如何感知和使用基因组信息,以及遗传咨询在满足客户需求方面的有效性。结果对于提高实践效果、改善患者预后以及为解决劳动力挑战提供具有成本效益的服务至关重要。虽然遗传咨询通常被认为是一种临床实践,但遗传咨询师可以通过多种方式为研究做出贡献。咨询师积极参与序列数据分析、合作开展临床研究团队,并担任首席研究员。本评论将遗传咨询师视为社会和行为科学家,并回顾了遗传咨询师生成的证据,描述了研究方面的高级培训,并提出了在精准医学时代将基因组科学转化为遗传咨询的关键社会和行为研究问题。

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