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犬临床遗传检测实验室质量保证检查表及其他注意事项:对已发布标准和指南的跟进。

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.

机构信息

Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.

Feragen GmbH, Salzburg, Austria.

出版信息

Hum Genet. 2019 May;138(5):501-508. doi: 10.1007/s00439-019-02013-9. Epub 2019 Apr 13.

Abstract

There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance programs. To further those standards and guidelines, we have developed a checklist that can be used as a self-evaluation to identify gaps in their programs for continual quality improvement over time. Because there is currently no organization willing to oversee an external proficiency program, the checklist provides the first step toward an internal, self-assessment that can be used periodically to monitor improvements. In addition, we attempt to address concerns from the canine community regarding rare or private mutations, genetic screening using array-based technologies, non-peer reviewed tests that are being offered, and the clinical validity of certain mutations in particular breeds. Through coordination, conversation and hard work, the canine genetic testing community can strive to organize to improve testing and to provide more transparency to consumers and better outcomes for dogs.

摘要

目前,犬类临床基因检测实验室没有监管。我们发布了一套初始标准和指南,旨在为犬类检测实验室评估其质量保证计划提供基础。为了进一步完善这些标准和指南,我们开发了一份清单,可以用作自我评估,以确定其计划中的差距,以便随着时间的推移不断改进质量。由于目前没有组织愿意监督外部能力验证计划,因此该清单是朝着内部自我评估迈出的第一步,可定期用于监测改进情况。此外,我们还试图解决犬类社区对罕见或私人突变、基于阵列的技术进行基因筛查、提供未经同行评审的测试以及某些特定品种突变的临床有效性等方面的担忧。通过协调、对话和努力,犬类基因检测社区可以努力组织起来,以改进检测,并为消费者提供更多的透明度,为犬类带来更好的结果。

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