Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseases.

European Journal of Human Genetics : EJHG
Ramal MoonesingheMuin J Khoury

Abstract

Genetic testing for susceptibility to common diseases based on a combination of genetic markers may be needed because the effect size associated with each genetic marker is small. Whether or not a genome profile based on a combination of markers could yield a useful test can be evaluated by assessing the discriminative accuracy. The authors present a simple method to calculate the clinical discriminative accuracy of a genomic profile when the relative risk and genotype frequency of each genotype are known. In addition, the clinical discriminative accuracy of a genetic test is presented for given values of the heritability and prevalence of the disease and for the population-attributable fraction of the combined genetic markers. For given values of relative risk and genotype frequency, the discriminative accuracy increases with increasing heritability but declines with increasing prevalence of the disease. For a given value of population-attributable fraction, the discriminative accuracy increases with increasing relative risks, but declines with increasing genotype frequency. On the basis of population-attributable fraction and estimates of heritability of disease, the number of risk genotypes required to have a reasonable clin...Continue Reading

References

May 3, 2003·Trends in Molecular Medicine·John P A Ioannidis
Jan 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Muin J KhouryW Dana Flanders
Sep 15, 2005·Journal of Medical Screening·J K Morris, N J Wald
Dec 16, 2005·International Journal of Epidemiology·Ramal Moonesinghe
Jan 19, 2006·Journal of Medical Screening·Nicholas J WaldSimon Rish
Aug 21, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·A Cecile J W JanssensMuin J Khoury
Sep 6, 2007·Genome Research·Naomi R WrayPeter M Visscher
Jan 18, 2008·The New England Journal of Medicine·S Lilly ZhengHenrik Grönberg
Dec 6, 2008·Emerging Themes in Epidemiology·Ramal MoonesingheMuin J Khoury

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Citations

Feb 4, 2012·Cancer Prevention Research·Matthew L SilvieraCarmen Sapienza
Jul 26, 2012·BMC Genomics·Jonathan M DreyfussMarco F Ramoni
Jul 10, 2013·Human Genomics·George P PatrinosDavid N Cooper
Aug 26, 2016·Journal of Human Genetics·Naoyuki KamataniMasanori Akita
May 26, 2011·Seminars in Ophthalmology·Margaret M DeangelisIvana K Kim
Oct 15, 2011·Human Heredity·M Luz CalleNuria Malats
Sep 24, 2013·Expert Review of Neurotherapeutics·Arjan Malekzadeh, Charlotte Teunissen
Oct 30, 2013·Genetic Epidemiology·Jincao WuMitchell H Gail
Apr 4, 2012·Diseases of the Colon and Rectum·Rishabh SehgalWalter A Koltun

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