The transformation of medical genetics by clinical genomics: hubris meets humility

被引：11
|
作者：
Grody, Wayne W. [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
机构：
[1] UCLA, Med Ctr, Sch Med,Div Med Genet, Inst Soc & Genet,Mol Diagnost Labs,Dept Path & La, Los Angeles, CA 90024 USA
[2] UCLA, Med Ctr, Sch Med, Inst Soc & Genet,Mol Diagnost Labs,Dept Pediat,Di, Los Angeles, CA 90024 USA
[3] UCLA, Med Ctr, Sch Med,Div Med Genet, Inst Soc & Genet,Mol Diagnost Labs,Dept Human Gen, Los Angeles, CA 90024 USA
[4] UCLA, Med Ctr, Sch Med,Div Mol Diagnost, Inst Soc & Genet,Mol Diagnost Labs,Dept Path & La, Los Angeles, CA 90024 USA
[5] UCLA, Med Ctr, Sch Med,Dept Pediat, Inst Soc & Genet,Mol Diagnost Labs,Div Mol Diagno, Los Angeles, CA 90024 USA
[6] UCLA, Med Ctr, Sch Med,Dept Human Genet, Inst Soc & Genet,Mol Diagnost Labs,Div Mol Diagno, Los Angeles, CA 90024 USA
[7] UCLA, Med Ctr, Clin Genom Ctr, Los Angeles, CA 90024 USA
来源：
GENETICS IN MEDICINE | 2019年 / 21卷 / 09期
关键词：
exome/genome sequencing; variant interpretation; secondary findings; quantum biology; clinical genomics; AMERICAN-COLLEGE; ACMG RECOMMENDATIONS; SEQUENCE VARIANTS; EXOME; GUIDELINES; MUTATIONS; STATEMENT; STANDARDS;
D O I：
10.1038/s41436-019-0450-0
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
There is no question that the advent of massively parallel ("next-generation") DNA sequencing has thrust Medical Genetics and Molecular Diagnostics into a new era, availing practitioners and patients of a form of genetic testing unprecedented in its scope and comprehensiveness. It has produced impressive diagnostic yield, ended the "diagnostic odyssey" for many patients and families, expanded the known phenotypes of countless disorders, and led to almost weekly new disease gene discoveries. Nevertheless, it still fails to identify the molecular cause of many patients who clearly exhibit genetic/syndromic conditions, while at the same time unmasking other sequence changes of uncertain significance or unexpected consequences. With over six years' experience in the clinical application of NGS, this seems an opportune time to take stock and face up honestly to how much we still do not know about genome action and, indeed, the DNA molecule itself. This review and assessment examines a number of residual deficiencies and misconceptions in clinical genomics, while daring to predict its future incorporation of other "-omics" approaches and even quantum phenomena in our unending quest to understand the heredity of Homo sapiens.
引用
收藏
页码：1916 / 1926
页数：11
相关论文
共 50 条
12345