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

journal contribution
posted on 2023-05-18, 12:09 authored by Sanfilippo, PG, Kearns, LS, Wright, P, David MackeyDavid Mackey, Alexander HewittAlexander Hewitt
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.

History

Publication title

Clinical and Experimental Ophthalmology

Volume

43

Issue

6

Pagination

578-590

ISSN

1442-6404

Department/School

Tasmanian School of Medicine

Publisher

Blackwell Publishing Asia

Place of publication

54 University St, P O Box 378, Carlton, Australia, Victoria, 3053

Rights statement

Copyright 2015 Royal Australian and New Zealand College of Ophthalmologists

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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