What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?

被引：13

作者：

Murdock, David R. ^{[1
]}

Rosenfeld, Jill A. ^{[1
]}

Lee, Brendan ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

ANNUAL REVIEW OF MEDICINE | 2022年 / 73卷

基金：

美国国家卫生研究院;

关键词：

MEDICAL GENETICS; AMERICAN-COLLEGE; EXOME; REANALYSIS; GENES; VARIANTS; RESOURCE; UTILITY; ISSUES; CARE;

D O I：

10.1146/annurev-med-042120-014904

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Genetic testing has undergone a revolution in the last decade, particularly with the advent of next-generation sequencing and its associated reductions in costs and increases in efficiencies. The Undiagnosed Diseases Network (UDN) has been a leader in the application of such genomic testing for rare disease diagnosis. This review discusses the current state of genomic testing performed within the UDN, with a focus on the strengths and limitations of whole-exome and whole-genome sequencing in clinical diagnostics and the importance of ongoing data reanalysis. The role of emerging technologies such as RNA and long-read sequencing to further improve diagnostic rates in the UDN is also described. This review concludes with a discussion of the challenges faced in insurance coverage of comprehensive genomic testing as well as the opportunities for a larger role of testing in clinical medicine.

引用

页码：575 / 585

页数：11

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