Diagnostic testing in neurogenetics. Principles, limitations, and ethical considerations.
Genetics has emphatically entered the practice of neurology. The last decade witnessed the discovery of the genetic basis of many diseases that primarily affect the nervous system. In areas such as neuromuscular and movement disorders, genetic testing has become a routine part of diagnostic testing. In areas like epilepsy, genetic advances likely will lead to new testing for certain patients. In dementia, the existence of a common predisposing genetic factor (apolipoprotein E) has already raised complex issues such as the appropriateness of genetic testing in specific clinical situations--issues that neurologists will confront more in the future. This article reviews basic principles of genetic testing, its application to neurology, and some limitations and ethical issues confronting the field.
Paulson
Henry L
HL
Department of Neurology, University of Iowa School of Medicine, Iowa City, IA 52242, USA. henry-paulson@uiowa.edu
D000544:Alzheimer Disease / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D004992:Ethics, Medical; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing / Q000941:ethics*; D005838:Genotype; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000941:ethics*; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics*; D011237:Predictive Value of Tests
D001057:Apolipoproteins E; D005819:Genetic Markers