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Chunk #39 — Discussion — Conclusion

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The genetic interpretation of area under the ROC curve in genomic profiling.
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diseases can imply quite different proportions of genetic variance explained by the genomic profile, which is often overlooked (e.g. [5]). Ultimately, genomic profiles may be used without contributions from environmental risk factors, since the contribution from the genomic profile can be estimated perinatally, prior to exposure by many environmental risk factors and when limited family history of disease is available. Indeed, one purpose of a genetic risk predictor is to allow individuals to choose to modify their exposure to environmental risks. We provide a simple online calculator (http://gump.qimr.edu.au/genroc) to calculate i) the maximum AUC for a genomic profile of a disease given estimates of disease prevalence and sibling recurrence risk or heritability of liability, ii) the proportion of variance explained on the liability scale given an estimate of AUC from a risk predictor and disease prevalence and iii) proportion of genetic variance or of sibling risk explained given an estimate AUC, disease prevalence and sibling recurrence risk [2].