Genetics in Otolaryngology: Translational Research

Program Description Recent years have seen great advances in our understanding of the molecular genetic basis of many clinical disorders. Building on the success of the Human Genome Project, new technologies are in development to identify disease‐causing mutations through genetic testing. However, there is a knowledge gap among otolaryngologists regarding which patients should undergo genetics evaluation and how genetic testing should be utilized in the care of patients. The three participants are clinician‐scientists who investigate the genetic factors underlying human disease, and also apply their understanding of genetics to the care of patients. This panel will discuss the state of the art in genetic testing in otolaryngology as well as translation of recent research which will soon be clinically available. Dr Gruber will address cancer genetics, applying his work in cancer in general to head and neck tumors; Dr Runge will discuss the evaluation of auditory neuropathy beyond routine clinical measures and also genetic testing as an example of genetic hearing loss. Dr Lesperance will discuss approaches to genetic evaluation of the pediatric patient, for children with rare genetic disorders, multiple congenital anomalies, and for Mendelian disorders. The emphasis will be on providing the practicing otolaryngologist with the tools to counsel and evaluate their patients with potential genetic disorders. Educational Objectives 1) Describe relationships between genotype and phenotype in auditory neuropathy spectrum disorder. 2) List the most common methods of genetic testing and the risks and benefits of each. 3) Understand the role of the geneticist in evaluating patients with otolaryngologic disorders.