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Overview

Genomic case conferences are live webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics.   Genomic Case Conferences are free for Members/Trainees.

Session Description

Hearing loss is the most common sensory deficit worldwide, seen in 1 in 500 newborns. It is estimated that over 50% of hearing loss is due to genetic causes. About 70% of genetic hearing loss is nonsyndromic and can be linked to over 100 genetic loci while the remaining 30% of cases can be linked to one of over 400 syndromes with hearing loss as a phenotype. Given the genetic and phenotypic heterogeneity of hearing loss and deafness, comprehensive genetic testing plays a vital role in the etiological diagnosis and prognosis of this patient population. Genetic evaluation is recommended by the American Board of Medical Genetics and Genomics for all newborns and children who are deaf or hard of hearing, illustrating the importance of this evaluation in the care and management of these patients. In this presentation, we review cases sent for OtoSCOPE multigene panel testing at the Molecular Otolaryngology and Renal Research Laboratories (MORL). These cases will highlight the complexities of genetic testing for hearing loss and deafness, including genetic testing methodologies, variant interpretation, and phenotypic correlation. We will review the clinical utility of genetic testing for hearing loss and deafness. Additionally, we will discuss the psychosocial impact of hearing loss and deafness and the role of genetic counseling for the deaf and hard of hearing.    

Learning Objectives

At the conclusion of the series, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests
2. Identify clinical indications for whole exome/whole genome sequencing
3. List determinants used to assess the probability of a variant’s pathogenicity
4. Elaborate on the importance of pre-test counseling and consent

Session Learning Objectives

At the conclusion of this session, participants should be able to:

1. Describe the complexities of genetic testing for hearing loss and deafness including genetic heterogeneity, copy number variants, and pseudogene regions.
2. Review the clinical utility of genetic testing for hearing loss and deafness.
3. Identify clinical and family history information vital to interpretation of genetic test results.  
4. Discuss the psychosocial impact of hearing loss and deafness and the role of genetic counseling in patient and family care.

Faculty:

Richard JH Smith, MD

Director, Molecular Otolaryngology and Renal Research Laboratories, and the Iowa Institute of Human Genetics

Professor of Internal Medicine and Pediatrics, Otolaryngology, Molecular Physiology & Biophysics Sterba Hearing ResearchProfessor,Vice Chair- Department of Otolaryngology, University of Iowa
 

Amanda Schaefer, MS, LGC

Associate Genetic Counselor, Molecular Otolaryngology and Renal Research Laboratories

Department of Otolaryngology-Head & Neck Surgery, University of Iowa

Accreditation Statement

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Designation Statement

The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1 AMA PRA Category 1 Credits™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming your CME Credits

Complete the activity and carefully complete the evaluation form. Please allow 24 hours to view and print a certificate awarding 1 AMA PRA Category 1 Credits™.

Target Audience

1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Off-label Drug Use statement

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.

Disclosures of Financial Relationships

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Maximilian Muenke, MD, FACMG

Presenter Disclosures 

Richard JH Smith, MD

Director, Molecular Otolaryngology and Renal Research Laboratories, and the Iowa Institute of Human Genetics, Professor of Internal Medicine and Pediatrics, Otolaryngology, Molecular Physiology & Biophysics Sterba Hearing Research Professor, and Vice Chair- Department of Otolaryngology, University of Iowa

Has no relevant financial relationships to disclose.

Amanda Schaefer, MS, LGC

Associate Genetic Counselor, Molecular Otolaryngology and Renal Research Laboratories

Department of Otolaryngology-Head & Neck Surgery, University of Iowa

Has no relevant financial relationships to disclose.

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