Purpose of review: This article puts advances in the field of neurogenetics into context and provides a quick review of the broad concepts necessary for current practice in neurology.
Recent findings: The exponential growth of genetic testing is due to its increased speed and decreasing cost, and it is now a routine part of the clinical care for a number of neurologic patients. In addition, phenotypic pleiotropy (mutations in the same gene causing very disparate phenotypes) and genetic heterogeneity (the same clinical phenotype resulting from mutations in different genes) are now known to exist in a number of conditions, adding an additional layer of complexity for genetic testing in these disorders.
Summary: Although the growing complexity of technical knowledge in the ordering and interpretation of genetic tests makes it necessary for neurologists to consult medical geneticists, limitations in the availability of such professionals often means neurologists will be on the front line dealing with suspected or confirmed neurogenetic conditions. The growing availability of broad genetic testing through chromosomal microarray and next-generation sequencing and the expanded phenotypic spectrum of many conditions has implications for genetic counseling and medical management. This article discusses the various forms of genetic variability and how to test for each of them. It also provides an update on the most common forms of neurologic presentations of genetic disease and a review of testing strategies.