ARC 2018: Genetics and Hearing Loss (0.5 AAA/Tier 1 CEUs)
ARC2018: Genetics and Hearing Loss (0.5 AAA/Tier 1 CEUs)
Hearing loss is the most common congenital sensory impairment and birth defect. It has been well established that genetics plays an integral role in more than half of congenital hearing losses. Given the strong relationship between genetics and hearing loss in audiological practice, the Academy continues its commitment to providing audiologists the latest on genetics research as it relates to hearing impairment in clinical practice through the annual Academy Research Conference (ARC).
Chaired by Kathleen Arnos, PhD, ARC18 brought together in Nashville, TN a world-renowned lineup of leading researchers who presented their latest findings. Recorded in webinar format on April 18, 2018, ARC2018 is now available on eAudiology to purchase on-demand
Recorded at AAA 2018: This product contains 5 presentations and a panel discussion and is worth 0.5 CEUs/Tier 1.
The Basics of Genetics for the Clinician
Marci Lesperance, MD, Pediatric Otolaryngologist University of Michigan
Abstract: Recent advances in genetic technology have made it possible to identify a molecular etiology of hearing loss in an increasing proportion of patients. But how is this information relevant to clinicians and patients? This lecture will present an approach to the patient with hearing loss in order to provide the clinician with the background knowledge to offer the patient an informed choice regarding a genetic evaluation and/or genetic testing. Modes of inheritance including dominant, recessive, X-linked and mitochondrial inheritance. In addition, clinical challenges in diagnosing hereditary hearing loss will be discussed.
1. Describe modes of inheritance of hereditary hearing loss.
2. Explain the role of genetic diagnosis in guiding patient care.
3. List the most common forms of hereditary hearing loss.
Genetic Testing and Counseling in the Era of Precision Medicine
Arti Pandya, MD, Pediatric Clinical Geneticist, University of North Carolina
Abstract: Hearing loss is the most common neurosensory deficit that affects 1 in 500 children, with profound loss identified in 1 in 1000 newborns. The past few decades have witnessed remarkable progress in early detection of hearing loss through audiologic newborn screening and in identifying a genetic cause for a large proportion of profound loss. The completion of the Human Genome Project and other advances in developing mouse models for hearing loss have enabled identifying more than 250 genes that are important in both non- syndromic and syndromic forms of hearing loss. With the availability of technology to interrogate the genome and the recent initiative for Precision Medicine there are definite opportunities to tailor the care and management of children and adults with hearing loss. In the presentation, I propose to use case-based approach to highlight the advantages and limitations for such an approach.
1. Describe the advances in understanding genetic etiology of hearing loss.
2. List current available options for genetic testing for hearing loss.
3. Discuss the applications and utility of these newer platforms in evaluation and management of individuals with hearing loss.
Age-related Hearing Loss and Noise-Induced Hearing Loss—Old Problems and New Paradigms
Lawrence Lustig, MD, Otolaryngologist and Neurotologist, Columbia University Medical Center
Abstract: Age related hearing loss and noise induced hearing loss are the most common sensory impairments that affect humans. Research over the past 20 years has gradually elucidated the mechanisms that underlie both of these public health problems. Research has now definitively linked early noise exposure to age related hearing loss in animal models, and new data strongly suggests this relationship also applies to us. This talk will outline the molecular basis for age related hearing loss, noise-induced hearing loss, and the relationship between these 2 seemingly disparate disorders. Lastly, I will outline treatment options for these disorders going forward, including gene and molecular therapies.
1. Explain the molecular basis of age-related hearing loss.
2. Describe the mechanisms that underlie noise-induced hearing loss
3. Discuss how early noise exposure can lead to a more severe age-related hearing loss.
Genetic Associations with Vestibular Disorders and Unilateral Hearing Loss
Kelley Dodson, MD, Pediatric Otolaryngologist, Virginia Commonwealth University
Abstract: This presentation will summarize present current evidence underlying the genetic basis for certain types of unilateral and vestibular disorders. We will discuss the risk factors associated with congenital unilateral hearing loss and the importance of ascertaining the patient’s family history. Participants will gain an understanding of vestibular disorders with a genetic component and how these relate to inner ear structure and function. The presentation will also explore the potential of progressive hearing loss in the normal hearing ear in the context of certain genetic conditions.
1. Describe the risk factors for congenital and later-onset unilateral hearing loss and the evidence behind a genetic predisposition for this condition.
2. Identify the genetic factors that may underlie certain vestibular disorders and their clinical significance.
3. Recognize when to refer patients with unilateral hearing loss or vestibular disorders for further evaluation.
From Etiologic Diagnoses to Personalized Therapies for Hearing Loss
Cynthia Morton, PhD, Medical Geneticist, Brigham & Women's Hospital, Harvard University
Abstract: In this era of precision medicine, etiologic diagnoses are fundamental to facilitate individualized management and targeted therapeutics. Given most congenital hearing loss is hereditary with unparalleled genetic heterogeneity, next-generation sequencing and computing methods for rapid discovery of the genetic basis of a hearing loss are technological developments that will mark another milestone in newborn hearing screening and in optimized habilitation for deafness. Implementation of these approaches into newborn hearing screening and into diagnostic genetic testing will result in improved sensitivity and specificity and will enable presymptomatic diagnosis with potential for timely treatments.
1. Identify the percentage of a US pediatric population with abnormal audiograms estimated to receive a conclusive genetic diagnosis for their hearing loss following state-of-the-art panel testing today.
2. Describe potential optimized habilitation and management with implementation of genomic testing into newborn screening.
3. Explain the impact genomic testing is envisioned to have on current medical practice for newborns who fail their confirmatory testing with a view to future medical therapies.