NOV 26, 2012
Sequenom, Inc. has reported results from a study validating its laboratory-developed genetic test that combines patient disease stage with patient genetic variation to evaluate the risk of a patient with early or intermediate AMD to progress to advanced choroidal neovascularization within two, five and 10 years.
Investigators used patient DNA samples made available through the National Eye Institute's Age-Related Eye Disease Study (AREDS). More than 2,000 patients were genotyped for 13 single nucleotide gene polymorphisms in genes previously shown to be associated with CNV. Sequenom compared the predictive value of a phenotype model, based on the assessment of disease grade currently used in clinical practice.
The predictive model that combined genotype with phenotype was found to be more accurate in predicting CNV progression (AUC=0.96) than the phenotype model alone based on disease grade (AUC=0.89), concluding that inclusion of the genotype assessment is more effective in predicting CNV progression compared with phenotype alone.
"Physicians today rely on an assessment of patient disease stage to predict the risk of progressing to CNV, and this genetic laboratory developed test will help improve the accuracy of prediction by assessing individual risk based on the genetic predisposition of the patient," said Allan T. Bombard, MD, Sequenom's chief medical officer.