Genetic Testing for Hearing Loss and Deafness Drives Tailored Care for the Deaf and Hard of Hearing and their Families
Presented by: University of Iowa
Date of Release: June 01, 2020
Educational Credits are not offered
Estimate time of completion: 1 hour
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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.
Target Audience
a. 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.
b. 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.
Learning Objectives
At the conclusion of the series, participants should be able to:
- Describe the clinical utility of whole exome/whole genome sequencing tests
- Identify clinical indications for whole exome/whole genome sequencing
- List determinants used to assess the probability of a variant’s pathogenicity
- Elaborate on the importance of pre-test counseling and consent
Session Learning Objectives
At the conclusion of this session, participants should be able to:
- Describe the complexities of genetic testing for hearing loss and deafness including genetic heterogeneity, copy number variants, and pseudogene regions.
- Review the clinical utility of genetic testing for hearing loss and deafness.
- Identify clinical and family history information vital to interpretation of genetic test results.
- Discuss the psychosocial impact of hearing loss and deafness and the role of genetic counseling in patient and family care.
Presenters
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
Financial Disclosures
Disclosure Statement
It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests (see definition below) within the past 12 months that creates a real or apparent conflict of interest. Disclosure must include financial relationships of the individual and those of their spouse/partner. Individuals who do not disclose will be disqualified from participating in a CME activity.
This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.
NOTE:
- ACMG will follow the ACCME’s expectation that no employees or owners of commercial interests will be involved as planners/faculty/presenters of a CME accredited activity.
- The ACCME definition of a commercial interest is any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.
- The ACCME does not consider providers of clinical service directly to patients to be commercial interests - unless the provider of clinical service is owned, or controlled by, an ACCME-defined commercial interest.
- Diagnostic laboratories are not considered commercial interests unless they are owned by or have a sister organization which is a commercial interest.
Planning Committee
Anne Slavotinek, MB.BS., PhD, FACMG
ACMG Education Committee Chair and Liaison to the Program Committee
Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate
John Bernat, MD, PhD, FACMG
University of Iowa
Disclosures: Grant/research support: Idorsia, Pfizer, Protalix, Sanofi Genzyme, Takeda. Advisory boards: Sanofi Genzyme, Takeda
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 (Divisions of Nephrology), 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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