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    Course Summary

    Professor John Marshall & Bill Harvey (15:27)

    Recently, there’s been increasing excitement around the development of DNA testing kits for a range of ocular diseases. Test kits have been developed for specific inherited eye conditions, such as granular corneal dystrophy, as well as to indicate the genetic risk of developing some common multifactorial conditions, such as AMD. Granular corneal dystrophy is an autosomal dominant hereditary disorder with a known inheritance pattern, so a DNA test which can demonstrate the presence of the defective gene is conclusive. People with the defective gene who undergo refractive surgery may develop a rapid deterioration in their corneal health, and the test will help to avoid this. In the case of age-related macular degeneration, however, the genetic risk factors have many variables, meaning that the result of a DNA test is more complicated to interpret. In conversation with Bill Harvey, Professor John Marshall, the Frost Professor of Ophthalmology at the Institute of Ophthalmology, UCL, clarifies exactly how these DNA test kits work, how to interpret the results, and what accurate conclusions ophthalmologists and optometrists can draw from these types of test.  

    First published in DOCET OQ93 (2015).

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      Learning objectives

      6.1.1 Understand the genetic basis of some named inherited conditions and to understand how DNA testing may help establish likely risk of those with known specific gene loci, such as corneal dystrophies, and how they may imply risk in multifactorial heterozygous inherited conditions such as AMD.

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        More information and references


        • Dandara C, et al. 2013. Direct-to-consumer genetic testing: to test or not to test, that is the question. S Afr Med J. 103 (8), 510 – 512.
        • Haddow JE, Palomaki GE. 2003. ACCE: a model process for evaluating data on emerging genetic tests. In: Human Genome Epidemiology: A scientific foundation for using genetic information to improve health and prevent disease. Khoury M, Little J, Burke W.  New York: OUP. pp.  217 – 233.
        • Hawkins AK, Ho A. 2012. Genetic counseling and the ethical issues around direct to consumer genetic testing. J Genet Couns. 21 (3), 367 – 373.
        • Janssens AC, van Duijn CM. 2008. Genome-based prediction of common diseases: advances and prospects. Hum Mol Gen. 17 (R2), R166 – R173.
        • Li X, Quigg RJ, et al. 2008. Clinical utility of microarrays: current status, existing challenges and future outlook. Curr Genomics.  9 (7), 466 – 474.
        • Sanfilippo PG, et al. 2015. Current landscape of direct-to-consumer genetic testing and its role in ophthalmology. Clin Exp Ophthalmol. Doi:10.1111/ceo.12508.
        • Ng PC, et al. 2009. An agenda for personalized medicine. Nature. 461 (7265), 724 – 726.
        • Berg C, Fryer-Edwards K. 2008. The ethical challenges of direct-to-consumer genetic testing. J Bus Ethics. 77 (1), 17 – 31.
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