Recommendations for genetic testing of inherited eye diseases: Report of the American academy of ophthalmology task force on genetic testing

Edwin M. Stone, Anthony J. Aldave, Arlene V. Drack, Mathew W. MacCumber, Val C. Sheffield, Elias Traboulsi, Richard G. Weleber

Research output: Contribution to journalArticlepeer-review

60 Scopus citations

Abstract

Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnoses and prognoses, can improve the accuracy of genetic counseling, can reduce the risk of disease occurrence or recurrence in families at risk, and can facilitate the development and delivery of mechanism-specific care. However, like all medical interventions, genetic testing has some specific risks that vary from patient to patient. For example, the results of a genetic test can affect a patient's plans to have children, can create a sense of anxiety or guilt, and can even perturb a patient's relationships with other family members. For these reasons, skilled counseling should be provided to all individuals who undergo genetic testing to maximize the benefits and minimize the risks associated with each test. Financial Disclosure(s): The author have no proprietary or commercial interest in any of the material discussed in this article.

Original languageEnglish (US)
Pages (from-to)2408-2410
Number of pages3
JournalOphthalmology
Volume119
Issue number11
DOIs
StatePublished - Nov 1 2012

ASJC Scopus subject areas

  • Ophthalmology

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