OPINION Beyond odds - ratios communicating disease risk based on genetic profiles

被引：117

作者：

Kraft, Peter ^{[1
]}

Wacholder, Sholom ^{[2
]}

Cornelis, Marilyn C. ^{[3
]}

Hu, Frank B. ^{[3
]}

Hayes, Richard B. ^{[2
]}

Thomas, Gilles ^{[2
]}

Hoover, Robert ^{[2
]}

Hunter, David J. ^{[1
,2
,3
,4
,5
]}

Chanock, Stephen ^{[2
]}

机构：

[1] Harvard Univ, Program Mol & Genet Epidemiol, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[2] NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[3] Harvard Univ, Dept Nutr, Sch Publ Hlth, Boston, MA 02115 USA

[4] Brigham & Womens Hosp, Channing Lab, Boston, MA 02115 USA

[5] Harvard Univ, Sch Med, Boston, MA 02115 USA

来源：

NATURE REVIEWS GENETICS | 2009年 / 10卷 / 04期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; OPERATING CHARACTERISTIC CURVE; PROSTATE-CANCER; ATTRIBUTABLE RISK; BREAST-CANCER; LOCI; PREVENTION; FINASTERIDE; LIMITATIONS; PREDICTION;

D O I：

10.1038/nrg2516

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The brisk discovery of novel inherited disease markers by genome-wide association (GWA) studies has raised expectations for predicting disease risk by analysing multiple common alleles. However, the statistics used during the discovery phase of research (such as odds ratios or p values for association) are not the most appropriate measures for evaluating the predictive value of genetic profiles. We argue that other measures - such as sensitivity, specificity, and positive and negative predictive values - are more useful when proposing a genetic profile for risk prediction.

引用

页码：264 / 269

页数：6

共 53 条

[11] On criteria for evaluating models of absolute risks [J].

Gail, MH ;

Pfeiffer, RM .

BIOSTATISTICS, 2005, 6 (02) :227-239

[12] Weighing the risks and benefits of tamoxifen treatment for preventing breast cancer [J].

Gail, MH ;

Costantino, JP ;

Bryant, J ;

Croyle, R ;

Freedman, L ;

Helzlsouer, K ;

Vogel, V .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1999, 91 (21) :1829-1846

[13]

Gartner CE, 2008, NEW ENGL J MED, V358, P2738

[14] What is the clinical utility of genetic testing? [J].

Grosse, Scott D. ;

Khoury, Muin J. .

GENETICS IN MEDICINE, 2006, 8 (07) :448-450

[15]

Haddow J.E., 2003, Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease eds, P217

[16] Letting the genome out of the bottle - Will we get our wish? [J].

Hunter, David J. ;

Khoury, Muin J. ;

Drazen, Jeffrey M. .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (02) :105-107

[17] Why most discovered true associations are inflated [J].

Ioannidis, John P. A. .

EPIDEMIOLOGY, 2008, 19 (05) :640-648

[18]

Janssens ACJW, 2008, NEW ENGL J MED, V358, P2739

[19] Predictive testing for complex diseases using multiple genes: Fact or fiction? [J].

Janssens, A. Cecile J. W. ;

Aulchenko, Yurii S. ;

Elefante, Stefano ;

Borsboom, Gcrard J. J. M. ;

Steyerberg, Ewout W. ;

van Duijin, Cornelia M. .

GENETICS IN MEDICINE, 2006, 8 (07) :395-400

[20] Genome-based prediction of common diseases: advances and prospects [J].

Janssens, A. Cecile J. W. ;

van Duijn, Cornelia M. .

HUMAN MOLECULAR GENETICS, 2008, 17 :R166-R173

← 1 2 3 4 5 6 →