title: Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.
abstract: Next-generation sequencing, also known as massively paralleled sequencing, offers an unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a dramatic change from a few years ago. The specific involvement of the retina and the manageable number of genes to sequence make inherited retinal dystrophies an attractive model to study genotype-phenotype correlations. Costs are reducing rapidly and the current overall mutation detection rate of approximately 60% offers real potential for personalized medicine and treatments. This report addresses the challenges ahead, which include: better understanding of the mutation mechanisms of syndromic genes in apparent non-syndromic patients; finding mutations in patients who have tested negative or inconclusive; better variant calling, especially for intronic and synonymous variants; more precise genotype-phenotype correlations and making genetic testing more broadly accessible.
authors.affiliation: a 1 Casey Eye Institute Molecular Diagnostic Laboratory, Oregon Health Science University, Portland, OR, USA.
authors.forename: John Pei-Wen
authors.initials: JP
authors.lastname: Chiang
authors.affiliation: b 2 Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.
authors.forename: Tina
authors.initials: T
authors.lastname: Lamey
authors.affiliation: b 2 Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.
authors.forename: Terri
authors.initials: T
authors.lastname: McLaren
authors.affiliation: b 2 Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Thompson
authors.affiliation: b 2 Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.
authors.forename: Hannah
authors.initials: H
authors.lastname: Montgomery
authors.affiliation: b 2 Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.
authors.forename: John
authors.initials: J
authors.lastname: De Roach
mesh_terms: D004252:DNA Mutational Analysis; D059472:Exome; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D025202:Molecular Diagnostic Techniques; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics
keywords: LCA; NGS; Stargardt disease; genes; genetic testing; genotyping; inherited retinal dystrophy; molecular diagnosis; retina; retinitis pigmentosa