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Genetic Testing for Hearing Loss and Deafness Drives Tailored Care for the Deaf and Hard of Hearing and their Families- OnDemand
University of Iowa
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About this course

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  

CME credits expiration date: June 01, 2023

Estimate time of completion: 1 hour

Course must be completed by the expiration date

 

www.acmgeducation.net

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.

 

Educational Credit

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 enduring 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 Educational Credits

Pass a post-test with a score of 80% or better. Complete the activity evaluation form.

 

HIPAA Compliance

The ACMG supports medical information privacy.  While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized.  All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information.  If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.

 

Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:

 

Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
  1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
  2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.

 

  1. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.
  2. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.

 

Off-label Uses of Products

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.

 

 

 

 

 

 

 

 

 

 

 

  

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Summary
Availability: On-Demand
Available Jun 01, 2020 to Jun 01, 2023
Cost: ACMG Member: $15.00
Non-Member: $55.00
Postdoc/Trainee (M): $15.00
Postdoc/Trainee (NM): $55.00
Student (M): $15.00
Student (NM): $55.00
Credit Offered: 1 CME (AMA) Credit
1 CME (Other) Credit
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