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

被引：12

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

共 67 条

[1] Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq [J].

Aicher, Joseph K. ;

Jewell, Paul ;

Vaquero-Garcia, Jorge ;

Barash, Yoseph ;

Bhoj, Elizabeth J. .

GENETICS IN MEDICINE, 2020, 22 (07) :1181-1190

[2] The "All of Us" Research Program [J].

Denny J.C. ;

Rutter J.L. ;

Goldstein D.B. ;

Philippakis A. ;

Smoller J.W. ;

Jenkins G. ;

Dishman E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2019, 381 (07) :668-676

[3] OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders [J].

Amberger, Joanna S. ;

Bocchini, Carol A. ;

Schiettecatte, Francois ;

Scott, Alan F. ;

Hamosh, Ada .

NUCLEIC ACIDS RESEARCH, 2015, 43 (D1) :D789-D798

[4] Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort [J].

Bertoli-Avella, Aida M. ;

Beetz, Christian ;

Ameziane, Najim ;

Rocha, Maria Eugenia ;

Guatibonza, Pilar ;

Pereira, Catarina ;

Calvo, Maria ;

Herrera-Ordonez, Natalia ;

Segura-Castel, Monica ;

Diego-Alvarez, Dan ;

Zawada, Michal ;

Kandaswamy, Krishna K. ;

Werber, Martin ;

Paknia, Omid ;

Zielske, Susan ;

Ugrinovski, Dimitar ;

Warnack, Gitte ;

Kampe, Kapil ;

Iurascu, Marius-Ionut ;

Cozma, Claudia ;

Vogel, Florian ;

Alhashem, Amal ;

Hertecant, Jozef ;

Al-Shamsi, Aisha M. ;

Alswaid, Abdulrahman Faiz ;

Eyaid, Wafaa ;

Al Mutairi, Fuad ;

Alfares, Ahmed ;

Albalwi, Mohammed A. ;

Alfadhel, Majid ;

Al-Sannaa, Nouriya Abbas ;

Reardon, Willie ;

Alanay, Yasemin ;

Rolfs, Arndt ;

Bauer, Peter .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2021, 29 (01) :141-153

[5]

Blue Shield Calif, 2020, NEWS RELEASE 0309

[6] Pitfalls of clinical exome and gene panel testing: alternative transcripts [J].

Bodian, Dale L. ;

Kothiyal, Prachi ;

Hauser, Natalie S. .

GENETICS IN MEDICINE, 2019, 21 (05) :1240-1245

[7] Issues surrounding the health economic evaluation of genomic technologies [J].

Buchanan, James ;

Wordsworth, Sarah ;

Schuh, Anna .

PHARMACOGENOMICS, 2013, 14 (15) :1833-1847

[8] Limitations of exome sequencing in detecting rare and undiagnosed diseases [J].

Burdick, Kendall J. ;

Cogan, Joy D. ;

Rives, Lynette C. ;

Robertson, Amy K. ;

Koziura, Mary E. ;

Brokamp, Elly ;

Duncan, Laura ;

Hannig, Vickie ;

Pfotenhauer, Jean ;

Vanzo, Rena ;

Paul, Michael S. ;

Bican, Anna ;

Morgan, Thomas ;

Duis, Jessica ;

Newman, John H. ;

Hamid, Rizwan ;

Phillips, John A., III .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) :1400-1406

[9] Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications [J].

Chen, Xiaoyu ;

Schulz-Trieglaff, Ole ;

Shaw, Richard ;

Barnes, Bret ;

Schlesinger, Felix ;

Kallberg, Morten ;

Cox, Anthony J. ;

Kruglyakl, Semyon ;

Saunders, Christopher T. .

BIOINFORMATICS, 2016, 32 (08) :1220-1222

[10] Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel [J].

Chiang, Theodore ;

Liu, Xiuping ;

Wu, Tsung-Jung ;

Hu, Jianhong ;

Sedlazeck, Fritz J. ;

White, Simon ;

Schaid, Daniel ;

de Andrade, Mariza ;

Jarvik, Gail P. ;

Crosslin, David ;

Stanaway, Ian ;

Carrell, David S. ;

Connolly, John J. ;

Hakonarson, Hakon ;

Groopman, Emily E. ;

Gharavi, Ali G. ;

Fedotov, Alexander ;

Bi, Weimin ;

Leduc, Magalie S. ;

Murdock, David R. ;

Jiang, Yunyun ;

Meng, Linyan ;

Eng, Christine M. ;

Wen, Shu ;

Yang, Yaping ;

Muzny, Donna M. ;

Boerwinkle, Eric ;

Salerno, William ;

Venner, Eric ;

Gibbs, Richard A. .

GENETICS IN MEDICINE, 2019, 21 (09) :2135-2144

← 1 2 3 4 5 6 7 →