Deafness in the genomics era

Shearer, A. Eliot; Hildebrand, Michael S.; Sloan, Christina M.; Smith, Richard J.H.

doi:10.1016/j.heares.2011.10.001

Cited by 98 publications

(102 citation statements)

References 48 publications

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“…The main advantage of these tests is their ability to address the problem of genetic heterogeneity, wherein many different genes result in phenotypes that cannot be easily distinguished clinically. [92][93][94][95][96] Several NGS tests are now clinically available and can be found by querying the GeneTests and Genetic Testing Registry websites. 97,98 NGS tests that use disease-targeted exon-capture approaches restrict sequencing to specific genes, such as genes known to be associated with hearing loss.…”

Section: Genetic Testing For the Etiologic Diagnosis Of Hereditary Hementioning

confidence: 99%

“…In some cases, it may be helpful to have tests performed in laboratories that ACMG PrACtiCe Guidelines focus on genetic causes of hearing loss because these laboratories may be more likely to report test performance with respect to hearing-related genes and to have developed approaches to specifically analyze relevant regions of the genome that may be refractory to more general NGS approaches. [92][93][94][95][96]99 …”

Section: Genetic Testing For the Etiologic Diagnosis Of Hereditary Hementioning

confidence: 99%

See 1 more Smart Citation

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

214

134

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DEFINITIONSDeaf: a community with a distinct culture and language shaped by the experience of being deaf or hard of hearing, which may include deaf, hard-of-hearing, and hearing individuals deaf: an auditory phenotype characterized by a total or neartotal loss of the ability to hear hard of hearing: an auditory phenotype characterized by a partial loss of the ability to hear hearing loss: an auditory phenotype characterized by any degree of loss of the ability to hear; depending on cause, hearing loss can be temporary or permanent-this guideline focuses on permanent hearing loss Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

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Section: Genetic Testing For the Etiologic Diagnosis Of Hereditary Hementioning

confidence: 99%

Section: Genetic Testing For the Etiologic Diagnosis Of Hereditary Hementioning

confidence: 99%

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

214

134

View full text Add to dashboard Cite

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“…MPS in general relies on targeted genomic enrichment (TGE) for simultaneous isolation of hundreds or thousands of genomic regions prior to high-throughput sequencing. A detailed description of MPS technology is outside the scope of this review but can be found elsewhere 2–4 . Sequenced genetic regions can include only exons or gene regions of interest (a targeted disease specific gene panel) or all exons of all genes in the genome (exome sequencing).…”

Section: Introductionmentioning

confidence: 99%

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

Shearer

Smith

2015

Otolaryngol.--head neck surg.

Self Cite

129

110

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Objective To evaluate the use of new genetic sequencing techniques for comprehensive genetic testing for hearing loss. Data Sources Articles were identified from PubMed and Google Scholar databases using pertinent search terms. Review Methods Literature search identified 30 studies as candidates that met search criteria. Three studies were excluded and eight studies were found to be case reports. 20 studies were included for review analysis including seven studies that evaluated controls and 16 studies that evaluated patients with unknown causes of hearing loss; three studies evaluated both controls and patients. Conclusions In the 20 studies included in review analysis, 426 control samples and 603 patients with unknown causes of hearing loss underwent comprehensive genetic diagnosis for hearing loss using massively parallel sequencing. Control analysis showed a sensitivity and specificity > 99%, sufficient for clinical use of these tests. The overall diagnostic rate was 41% (range 10% to 83%) and varied based on several factors including inheritance and pre-screening prior to comprehensive testing. There were significant differences in platforms available in regards to number and type of genes included and whether copy number variations were examined. Based on these results, comprehensive genetic testing should form the cornerstone of a tiered approach to clinical evaluation of patients with hearing loss along with history, physical exam, and audiometry and can determine further testing that may be required, if any. Implications for Practice Comprehensive genetic testing has become the new standard of care for genetic testing for patients with sensorineural hearing loss.

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“…Since the introduction of the first NGS technology in 2004, more than 1000 NGS-related manuscripts have been published. Until now, approximately a dozen of genes for HL have been successfully determined using NGS (Shearer et al, 2011;Lin et al, 2012; Table 1). Most likely, the identification of other as yet unidentified deafness genes will soon follow.…”

Section: Deafness Genes Discovery Through Massively Parallel Sequencingmentioning

confidence: 99%