ABSTRACT

Historically, the most important legacy of the Human Genome Project in the field of neuroscience will be the era of experimental human neurogenetics: the ability to create experimental animal models of otherwise exclusively human neurologic disorders, and to perform experimental research using those animal models. However, while neurologists and their patients and families await the improved treatments that experimental neuroscience promises, a direct and immediate consequence of the discovery of disease genes, genetic testing is already available in clinical practice. We review below the role of genetic testing in neurology, and the role of the neurologist in ensuring that genetic tests are used and interpreted properly.