Basic medical genetics for the otolaryngologist

Abstract

Medical genetics is becoming an increasingly important part of the practice of medicine across every medical specialty. For otolaryngologists, understanding the genetic basis of hearing loss, tumors of the head and neck and other otolaryngologic conditions is crucial to effectively incorporating medical genetics information, tools and services into patient care. A clinician who understands the genetic basis of disease, mechanisms of genetic mutation and patterns of inheritance will be positioned to diagnose genetic conditions, interpret genetic test results, assess genetic risks for relatives of patients and refer patients and families for medical genetics and other specialty care. The family medical history is an indispensible tool that, when used properly, can aid in the recognition of genetic susceptibilities within a family and offer opportunities for early intervention. However, obtaining a family medical history is not as simple as it might seem. Knowing what questions to ask, how to properly draw a pedigree and how to recognize patterns of inheritance are critical to obtaining an informative family medical history and using the information in a clinical setting. This article provides a brief introduction to basic medical genetics that includes descriptions of the human genome, the genetic basis of human disease and patterns of inheritance, and a primer for collecting family medical history information.