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基因检测整合方案(GTIPs):一种将直接面向消费者的检测及其他新型基因检测整合到患者护理中的新方法。

Genetic testing integration panels (GTIPs): a novel approach for considering integration of direct-to-consumer and other new genetic tests into patient care.

作者信息

Uhlmann Wendy R, Sharp Richard R

机构信息

Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan Health System, Ann Arbor, MI 48109, USA.

出版信息

J Genet Couns. 2012 Jun;21(3):374-81. doi: 10.1007/s10897-011-9468-4. Epub 2012 Jan 14.

Abstract

There has been a dramatic increase in the number of genetic tests available but few tests have practice guidelines. In addition, many tests have become available outside of clinical settings through direct-to-consumer (DTC) companies and several offer tests not considered standard of care. To address several practical challenges associated with the rapid introduction of clinical and DTC genetic tests, we propose that genetic counselors and geneticists organize expert panels in their institutions to discuss the integration of new tests into patient care. We propose the establishment of Genetic Testing Integration Panels (GTIPs) to bring together local experts in medical genetics, genetic counseling, bioethics and law, health communication and clinical laboratory genetics. We describe key features of this approach and consider some of the potential advantages and limitations of using a GTIP to address the many clinical challenges raised by rapidly emerging clinical and DTC genetic tests.

摘要

可用的基因检测数量急剧增加,但很少有检测具备实践指南。此外,许多检测通过直接面向消费者(DTC)的公司在临床环境之外就能获得,并且有几家公司提供的检测并非被视为标准治疗手段的检测。为应对与临床和DTC基因检测的快速推出相关的若干实际挑战,我们建议基因咨询师和遗传学家在其机构中组织专家小组,讨论将新检测纳入患者护理的问题。我们提议设立基因检测整合小组(GTIPs),以汇聚医学遗传学、遗传咨询、生物伦理学与法律、健康传播以及临床实验室遗传学方面的当地专家。我们描述了这种方法的关键特征,并考虑了使用GTIP来应对快速出现的临床和DTC基因检测所引发的众多临床挑战的一些潜在优势和局限性。

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