title: Genetic testing for inherited ocular disease: delivering on the promise at last?
abstract: Genetic testing is of increasing clinical utility for diagnosing inherited eye disease. Clarifying a clinical diagnosis is important for accurate estimation of prognosis, facilitating genetic counselling and management of families, and in the future will direct gene-specific therapeutic strategies. Often, precise diagnosis of genetic ophthalmic conditions is complicated by genetic heterogeneity, a difficulty that the so-called 'next-generation sequencing' technologies promise to overcome. Despite considerable counselling and ethical complexities, next-generation sequencing offers to revolutionize clinical practice. This will necessitate considerable adjustment to standard practice but has the power to deliver a personalized approach to genomic medicine for many more patients and enhance the potential for preventing vision loss.
authors.affiliation: Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK; Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
authors.forename: Rachel L
authors.initials: RL
authors.lastname: Gillespie
authors.forename: Georgina
authors.initials: G
authors.lastname: Hall
authors.forename: Graeme C
authors.initials: GC
authors.lastname: Black
mesh_terms: D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005817:Genetic Counseling; D005820:Genetic Testing; D015316:Genetic Therapy; D006801:Humans
keywords: counselling; ethics; genetics; inherited eye disease; testing