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

机译:犬临床基因检测实验室的质量保证清单和其他注意事项:已发布标准和指南的后续措施

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摘要

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.Electronic supplementary materialThe online version of this article (10.1007/s00439-019-02013-9) contains supplementary material, which is available to authorized users.
机译:犬临床基因检测实验室目前没有监督。我们发布了一套初始的标准和指南,旨在为犬类测试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准则,我们制定了一个清单,可以用作自我评估,以识别其计划中的差距,以便随着时间的推移不断改进质量。由于当前没有组织愿意监督外部能力计划,因此清单为迈向内部自我评估提供了第一步,该评估可以定期用于监视改进。此外,我们尝试解决犬类界人士对稀有或私人突变,使用基于阵列的技术进行的基因筛查,正在提供的非同行评审的测试以及特定品种中某些突变的临床有效性的担忧。通过协调,交谈和辛勤工作,犬类基因测试界可以努力组织起来以改善测试,并为消费者提供更多透明度并为狗提供更好的结果。电子补充材料本文的在线版本(10.1007 / s00439-019-02013- 9)包含补充材料,授权用户可以使用。

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