GENETICS | Genetic Association Studies in Human Epilepsy and Pharmacogenetics of Antiepilepsy Drugs

Twenty-first century medicine will be greatly influenced by our growing ability to correlate genotype with phenotype. Genetic association studies offer many promises, but many challenges remain before data generated from this approach will find clinical application. Decades of research on the human genome, and advances in molecular technology, have culminated in an ability to rapidly catalog millions of DNA variations in any one individual. Comparing the form and frequency of these DNA variations between persons with disease and healthy controls holds the promise of identifying genetic factors that underlie pathology. This information will lead to direct improvements in both diagnostics and treatments. In addition, correlation between genetic markers and response to medicinal drugs (pharmacogentics) will revolutionize the way in which drugs are prescribed. Pharmacogenetic markers will add an evidence-based approach to help the physician determine the most appropriate selection of a first line drug, dosing titration schedules, and possible adverse effects. Improvements in disease phenotyping, in statistical interpretation of results, and in consistency of methodology across laboratories are some of the major obstacles that need to be addressed for genetic association studies to contribute to diagnosis and treatment of human complex traits.