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Genomic screening and genomic diagnostic testing-two very different kettles of fish.
Genome Medicine ( IF 10.4 ) Pub Date : 2019-11-27 , DOI: 10.1186/s13073-019-0696-9
Leslie G Biesecker 1
Affiliation  

Genomic testing can be misunderstood as being determinative, when in reality it is the same as all other tests and context is essential for its correct interpretation. Two hypothetical cases of testing for Marfan syndrome demonstrate how clinicians should contextualize genomic test results and the implementation of Bayes theorem in clinical decision-making.

中文翻译:

基因组筛选和基因组诊断测试-两种截然不同的鱼缸。

基因组测试可能被误认为是决定性的,而实际上它与所有其他测试相同,而上下文对于正确地解释是必不可少的。两个假设的马凡氏综合征测试案例表明,临床医生应如何根据基因组测试结果进行情境化,以及在临床决策中实施贝叶斯定理。
更新日期:2020-04-22
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