Ten Years of Incidental, Secondary, and Actionable Findings

被引:1
|
作者
Plon, Sharon [1 ,2 ]
Jarvik, Gail [3 ,4 ]
机构
[1] Baylor Coll Med, Dan L Duncan Canc Ctr, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Univ Washington, Med Ctr, Dept Med Med Genet, Seattle, WA USA
[4] Univ Washington, Med Ctr, Dept Genome Sci, Seattle, WA USA
来源
NEW ENGLAND JOURNAL OF MEDICINE | 2023年 / 389卷 / 19期
关键词
D O I
10.1056/NEJMe2310263
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In 2013, as sequencing tests that evaluated the genome or its coding regions (the exome) became available to aid in the diagnosis of suspected genetic disorders, the American College of Medical Genetics and Genomics (ACMG) issued a guideline(1) that included a set of medically important genes to be evaluated and reported independently of the indication for the test. Originally referred to as the ACMG Incidental Findings, this reporting guideline has undergone multiple updates and is now known as ACMG Secondary Findings (SF).(2) ACMG SF, version 3.0 (ACMG SF v3.0), recommends the reporting of pathogenic or likely pathogenic variants in 83 . . .
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收藏
页码:1813 / 1814
页数:2
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