Helix, San Carlos, California.
Mayo Clinic Laboratories, Rochester, Minnesota.
J Mol Diagn. 2019 Jan;21(1):3-12. doi: 10.1016/j.jmoldx.2018.09.006. Epub 2018 Nov 17.
The increasing quality and diminishing cost of next-generation sequencing has transformed our ability to interrogate large quantities of genetic information. This has led to a dramatic increase in the number of elective genomic tests performed. In this article, elective test denotes a test that a patient chooses to undertake without a clinical indication. The variety of elective genomic testing options is considerable. Because these offerings provide differing levels of sensitivity and specificity, it can be difficult to choose among them. A simple rubric to compare offerings is not readily available. We propose a framework designated completeness that evaluates both analytical and interpretative components of genomic tests. We then illustrate how this framework can be used to evaluate the expanding landscape of elective genomic testing.
下一代测序技术的质量不断提高，成本不断降低，这改变了我们分析大量遗传信息的能力。这导致了选择性基因组测试数量的急剧增加。在本文中，选择性测试是指患者在没有临床指征的情况下选择进行的测试。选择性基因组测试选项种类繁多。由于这些产品的灵敏度和特异性不同，因此很难在它们之间进行选择。一个简单的比较标准并不容易获得。我们提出了一个名为“完整性”的框架，用于评估基因组测试的分析和解释组件。然后，我们将说明如何使用该框架来评估不断扩大的选择性基因组测试领域。
