The impact of population heterogeneity on risk estimation in genetic counseling

BMC Medical Genetics
Wenlei LiuGary A Chase

Abstract

Genetic counseling has been an important tool for evaluating and communicating disease susceptibility for decades, and it has been applied to predict risks for a wide class of hereditary disorders. Most diseases are complex in nature and are affected by multiple genes and environmental conditions; it is highly likely that DNA tests alone do not define all the genetic factors responsible for a disease, so that persons classified into the same risk group by DNA testing actually could have different disease susceptibilities. Ignorance of population heterogeneity may lead to biased risk estimates, whereas additional information on population heterogeneity may improve the precision of such estimates. Although DNA tests are widely used, few studies have investigated the accuracy of the predicted risks. We examined the impact of population heterogeneity on predicted disease risks by simulation of three different heterogeneity scenarios and studied the precision and accuracy of the risks estimated from a logistic regression model that ignored population heterogeneity. Moreover, we also incorporated information about population heterogeneity into our original model and investigated the resulting improvement in the accuracy of risk estim...Continue Reading

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Citations

Feb 22, 2012·Forschende Komplementärmedizin = Research in Complementary Medicine·Mones Abu-AsabHakima Amri
Jul 12, 2005·Statistics in Medicine·Wenlei LiuGary A Chase
Dec 17, 2019·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Fanglin GuanTianxiao Zhang

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