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Gene Data Tool Advances Prospects for Personalized Medicine
Date:10/9/2009

--Applied to type 1 diabetes, widens net while increasing accuracy of individual risk assessments--

PHILADELPHIA, Oct. 9 /PRNewswire-USNewswire/ -- A sophisticated computational algorithm, applied to a large set of genetic markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes.

A research team led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, suggests that their technique, applied to appropriate complex multigenic diseases, improves the prospects for personalizing medicine to an individual's genetic profile. The study appears in the October 9 issue of the online journal PLoS Genetics.

Genome-wide association studies (GWAS), in which automated genotyping tools scan the entire human genome seeking gene variants that contribute to disease risk, have yet to fulfill their potential in allowing physicians to accurately predict a person's individual risk for a disease, and thus guide prevention and treatment strategies.

The authors say that for many diseases, the majority of contributory genes remain undiscovered, and studies that make selective use of a limited number of selected, validated gene variants yield very limited results. For many of the recent studies, the area under the curve (AUC), a method of measuring the accuracy of risk assessment, amounts to 0.55 to 0.60, little better than chance (0.50), and thus falling short of clinical usefulness.

Hakonarson's team broadened their net, going beyond cherry-picked susceptibility genes to searching a broader collection of markers, including many that have not yet been confirmed, but which reach a statistical threshold for gene interactions or association with a disease. Although this approach embraces some false positives, its overall statistical power produces robust predictive results.

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SOURCE The Children's Hospital of Philadelphia
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