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- PMID: 23845030
- UKPMCID: 23845030
- DOI: 10.1111/ceo.12159
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Genetic testing for inherited ocular disease: delivering on the promise at last?
Gillespie, Rachel L; Hall, Georgina; Black, Graeme C
Clinical & experimental ophthalmology. 42(1):65-77.
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Full-text held externally
- PMID: 23845030
- UKPMCID: 23845030
- DOI: 10.1111/ceo.12159
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.
Keyword(s)
counselling; ethics; genetics; inherited eye disease; testing