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Using it: NGS in the inherited retinal degeneration clinic
Author(s) -
DOWNES S,
NEMETH AH
Publication year - 2012
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2012.2664.x
Subject(s) - proband , medicine , genetic testing , retinal degeneration , bioinformatics , macular degeneration , mutation , genetics , biology , gene , ophthalmology , retinal
Abstract Purpose To describe the clinical application of Next Generation Sequencing (NGS) in a retinal dystrophy clinic Methods The use of NGS in a clinic setting is discussed using case histories from our research using NGS in IRD to illustrate the potential and complexities of NGS testing for the clinician. Results Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence ~1/3500). There is considerable phenotype and genotype heterogeneity, making a specific diagnosis very difficult without molecular testing. With the introduction of NGS huge amounts of genetic information are generated which highlight the importance of careful clinical phenotyping in the proband and family members with follow up segregation studies and functional analysis in many cases. Conclusion From our experience in the clinical setting it is evident that NGS has a useful role in diagnosis. In our NGS study our mutation detection rate suggests that many patients are likely to have mutations in novel genes and it is clear that resources are needed to carry out careful family studies and appropriate functional analysis.