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Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review


Sanfilippo, PG and Kearns, LS and Wright, P and Mackey, DA and Hewitt, AW, Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review, Clinical and Experimental Ophthalmology, 43, (6) pp. 578-590. ISSN 1442-6404 (2015) [Refereed Article]

Copyright Statement

Copyright 2015 Royal Australian and New Zealand College of Ophthalmologists

DOI: doi:10.1111/ceo.12508


The sequencing of the human genome has seen the emergence of the direct-to-consumer (DTC) genetic-testing market, which allows individuals to obtain information about their genetic profile and its many health and lifestyle implications. Genetics play an important role in the development of many eye diseases, however, little information is available describing the influence of the DTC industry in ophthalmology. In this review, we examined DTC companies providing genetic test products for eye disease. Of all eye conditions, the majority of DTC companies provided susceptibility testing or risk assessment for age-related macular degeneration (AMD). For the 15 companies noted to offer products, we found considerable variation in the cost, scope and clarity of informational content of DTC genetic testing for ophthalmic conditions. The clinical utility of these tests remains in question, and the American Academy of Ophthalmology recommendations against routine testing for many conditions probably still apply.

Item Details

Item Type:Refereed Article
Keywords:DTC, direct-to-consumer, eye disease, genetic testing, ophthalmology
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:102228
Year Published:2015
Web of Science® Times Cited:7
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-08-05
Last Modified:2017-11-07

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