2023 Early Hearing Detection & Intervention Conference
March 5-7, 2023 • Cincinnati, OH
2/28/2017 | 3:00 PM - 3:30 PM | Improving Early Intervention via a Single Comprehensive Genetic Screening for Prelingual Children with Hearing Loss | Hanover C
Improving Early Intervention via a Single Comprehensive Genetic Screening for Prelingual Children with Hearing Loss
About 2 to 3 out of every 1,000 children in the US are born with a detectable level of hearing loss in one or both ears (CDC and NIDCD). A genetic etiology is suspected in two thirds of these patients. Genetic testing offers unique insights into the cause of hearing loss and guides medical management and intervention. Optimized early interventions of prelingual children of congenital deafness are essential for language development. Both the Joint Committee on Infant Hearing (JCIH, 2007) and the American College of Medical Genetics (ACMG, 2002) recommend genetic testing for infants identified with hearing loss.
However, numerous mutations in more than 100 genes can cause hearing loss. Traditional testing of one gene at a time cannot meet the efficacy or overcome the cost burden of using genetic tests as a follow up for the mandatory newborn hearing tests. NIDCD supported this research to develop a comprehensive next generation sequencing (NGS) test for deafness genes. The NGS deafness test (Oto-DA3) allows the sequencing of 129 deafness genes in a single test. The development of a high throughput report platform further made it possible for physicians and genetic counselors to translate the test result to the patients or the families of patients. The test has been used for more than 1000 patients, and causal genetic variants were identified in 45-50% of the sporadic deafness patients. For confirmed congenital hearing loss cases, causal gene variants were diagnosed in almost all the cases using Oto-DA3 test. An example of how the test was administrated to a congenital hearing loss case will be presented. The implementation of this comprehensive deafness genetic test will significantly improve the diagnosis of congenital hearing loss and the selection of optimized management and interventions for language development of prelingual children while incurring a much reduced medical cost.
- Emphasize the importance of early genetic testing for prelingual children
- Understand the benefits of using a comprehensive gene panel testing supported by National Institute of Deafness and Other Communicative Diseases (NIDCD) grant that allows mutation detections of 129 deafness genes in a single test
- Understand the procedure of the test and the report of a comprehensive deafness gene test
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Presenters/Authors
Xi Lin
(), Emory University, xlin2@emory.edu;
Xi Lin is a Professor in the Dept of Otolaryngology of the Emory University School of Medicine. His research interest is in the mechanism of genetic deafness caused by mutations in connexin family of genes. He is also interested translational research of the high-throughput sequencing technologies in detecting mutations in newborns who fail the 1st round universal newborn hearing screening.
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Dong Qian
(), Otogenetics Corporation, dqian@otogenetics.com;
Otogenetics is a GLP-compliant, CLIA-certified next generation sequencing (NGS) laboratory. We have processed over 25,000 NGS samples with fast turnaround times and excellent coverage. Otogenetics offers disease-specific sequencing panels and can customize gene panels targeting your research interest/disease focus. We also offer low input RNA sequencing and multiple RNASeq workflows.
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Chad Haase
(), Otogenetics Corporation, chaase@otogenetics.com;
Otogenetics is a GLP-compliant, CLIA-certified next generation sequencing (NGS) laboratory. We have processed over 25,000 NGS samples with fast turnaround times and excellent coverage. Otogenetics offers disease-specific sequencing panels and can customize gene panels targeting your research interest/disease focus. We also offer low input RNA sequencing and multiple RNASeq workflows.
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Brantley Wyatt
(), Otogenetics Corporation, bwyatt@otogenetics.com;
Otogenetics is a GLP-compliant, CLIA-certified next generation sequencing (NGS) laboratory. We have processed over 25,000 NGS samples with fast turnaround times and excellent coverage. Otogenetics offers disease-specific sequencing panels and can customize gene panels targeting your research interest/disease focus. We also offer low input RNA sequencing and multiple RNASeq workflows.
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Mónica Rojas-Peña
(), Otogenetics Corporation, mrojaspena@otogenetics.com;
Otogenetics is a GLP-compliant, CLIA-certified next generation sequencing (NGS) laboratory. We have processed over 25,000 NGS samples with fast turnaround times and excellent coverage. Otogenetics offers disease-specific sequencing panels and can customize gene panels targeting your research interest/disease focus. We also offer low input RNA sequencing and multiple RNASeq workflows.
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Krista Fridley Ewing
(), Otogenetics Corporation, kewing@otogenetics.com;
Otogenetics is a GLP-compliant, CLIA-certified next generation sequencing (NGS) laboratory. We have processed over 25,000 NGS samples with fast turnaround times and excellent coverage. Otogenetics offers deafness testing as well as other disease-specific sequencing panels. We also offer multiple RNA Sequencing workflows.
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Ping Chen
(), Emory University School of Medicine, ping.chen@emory.edu;
Dr. Chen's research is focused on morphogenesis of the mammalian auditory sensory organ. The mammalian auditory organ, the organ of Corti, consists of highly stereotyped arrays of sensory hair cells and supporting cells suspended along the cochlea duct. During development, the precursor cells that give rise to the organ of Corti withdraw from the cell cycle synchronously prior to initiation of terminal differentiation. Subsequently, the postmitotic organ of Corti undergoes terminal differentiation in a gradient along both the basal-to-apical and medial-to-lateral axes of the cochlea to form a polarized sensory mosaic topographically innervated by acoustic ganglion neurons. This terminal differentiation of the organ of Corti is accompanied by the continued growth of the coiled cochlea and its sensory organ independent of cell division.
Her first research focus is to study the molecular mechanisms regulating cellular differentiation during the development of the organ of Corti. In addition, her lab examines the cellular and molecular mechanisms that shape the unique features of the mammalian auditory organ during terminal differentiation.
Deafness is one of the most common birth defects in humans. Many forms of deafness are due to defects in these developmental processes. Our study may reveal molecular mechanisms underlying deafness and provide important clues for applications targeted for hearing improvement.
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