Family history: a guide for neurologists in the age of genomic medicine

Abstract

The field of neurogenetics has expanded dramatically over recent years. Neurogenetics has developed from a distinct subspecialty within neurology to something that transcends most of the common presenting conditions for neurologists. The importance of understanding the genetic contribution to conditions like epilepsy, neurodevelopmental disorders, and metabolic diseases has become very evident in neurology. In the era of personalized medicine and genomic testing, we have just begun to understand how genetic factors contribute to the development of disease, influence its natural history and severity, and determine its response to therapy. Genetic risk analysis and interpretation have become central components for the modern clinical assessment, and a comprehensive family history analysis is essential for neurologists. The benefits of collecting and updating a detailed pedigree are important for diagnostic guidance, risk counseling, and test interpretation. A review of genetic inheritance patterns, pedigree construction, and factors that influence disease presentation is outlined for the application in neurology practice.