Applications and limitations in translating genomics to clinical practice

被引：4

作者：

Van Ness, Brian ^{[1
]}

机构：

[1] Univ Minnesota, Dept Genet Cell Biol & Dev, Minneapolis, MN 55455 USA

来源：

TRANSLATIONAL RESEARCH | 2016年 / 168卷

关键词：

D O I：

10.1016/j.trsl.2015.04.012

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Recent efforts to broadly apply genetics to clinical practice have been driven by the rapid advancement of genomic technologies and the discovery of genes associated with disease risk, progression, and treatment response. Yet there remain valid concerns about the complexities and limitations that confront the popular notion of clinical utility of genetics in personalized medicine. Research is still very much in the mode of discovery. The excitement of discovery and applications to diagnostics are well described in each of the articles in this issue. Yet, each article appropriately acknowledges the limitations that need to be overcome to apply new knowledge to clinical practice.

引用

页码：1 / 5

页数：5

共 17 条

[1]

American Medical Association and Medco Health Solutions, 2013, 59 ANN AM SOC HUM GE

[2] A prudent path forward for genomic engineering and germline gene modification [J].

Baltimore, David ;

Berg, Paul ;

Botchan, Michael ;

Carroll, Dana ;

Charo, R. Alta ;

Church, George ;

Corn, Jacob E. ;

Daley, George Q. ;

Doudna, Jennifer A. ;

Fenner, Marsha ;

Greely, Henry T. ;

Jinek, Martin ;

Martin, G. Steven ;

Penhoet, Edward ;

Puck, Jennifer ;

Sternberg, Samuel H. ;

Weissman, Jonathan S. ;

Yamamoto, Keith R. .

SCIENCE, 2015, 348 (6230) :36-38

[3] A New Initiative on Precision Medicine [J].

Collins, Francis S. ;

Varmus, Harold .

NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (09) :793-795

[4] Translating the genetics of cystic fibrosis to personalized medicine [J].

Corvol, Harriet ;

Thompson, Kristin E. ;

Tabary, Olivier ;

Le Rouzic, Philippe ;

Guillot, Loic .

TRANSLATIONAL RESEARCH, 2016, 168 :40-49

[5] Gut Check: Testing a Role for the Intestinal Microbiome in Human Obesity [J].

Flier, Jeffrey S. ;

Mekalanos, John J. .

SCIENCE TRANSLATIONAL MEDICINE, 2009, 1 (06)

[6]

Food and Drug Administration, 2014, ANT DET DRAFT GUID I

[7] ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [J].

Green, Robert C. ;

Berg, Jonathan S. ;

Grody, Wayne W. ;

Kalia, Sarah S. ;

Korf, Bruce R. ;

Martin, Christa L. ;

McGuire, Amy L. ;

Nussbaum, Robert L. ;

O'Daniel, Julianne M. ;

Ormond, Kelly E. ;

Rehm, Heidi L. ;

Watson, Michael S. ;

Williams, Marc S. ;

Biesecker, Leslie G. .

GENETICS IN MEDICINE, 2013, 15 (07) :565-574

[8]

Joyner MJ, 2015, NY TIMES, pA27

[9] Initial sequencing and analysis of the human genome [J].

Lander, ES ;

Int Human Genome Sequencing Consortium ;

Linton, LM ;

Birren, B ;

Nusbaum, C ;

Zody, MC ;

Baldwin, J ;

Devon, K ;

Dewar, K ;

Doyle, M ;

FitzHugh, W ;

Funke, R ;

Gage, D ;

Harris, K ;

Heaford, A ;

Howland, J ;

Kann, L ;

Lehoczky, J ;

LeVine, R ;

McEwan, P ;

McKernan, K ;

Meldrim, J ;

Mesirov, JP ;

Miranda, C ;

Morris, W ;

Naylor, J ;

Raymond, C ;

Rosetti, M ;

Santos, R ;

Sheridan, A ;

Sougnez, C ;

Stange-Thomann, N ;

Stojanovic, N ;

Subramanian, A ;

Wyman, D ;

Rogers, J ;

Sulston, J ;

Ainscough, R ;

Beck, S ;

Bentley, D ;

Burton, J ;

Clee, C ;

Carter, N ;

Coulson, A ;

Deadman, R ;

Deloukas, P ;

Dunham, A ;

Dunham, I ;

Durbin, R ;

French, L .

NATURE, 2001, 409 (6822) :860-921

[10] Personal genomes: The case of the missing heritability [J].

Maher, Brendan .

NATURE, 2008, 456 (7218) :18-21

← 1 2 →