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 Weleber

Research output: Contribution to journalArticle

57 Citations (Scopus)

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 2012
Externally publishedYes

Fingerprint

Eye Diseases
Genetic Testing
Advisory Committees
Ophthalmology
Guilt
Genetic Counseling
Disclosure
Medical Genetics
Counseling
Anxiety
Recurrence

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Recommendations for genetic testing of inherited eye diseases : Report of the American academy of ophthalmology task force on genetic testing. / Stone, Edwin M.; Aldave, Anthony J.; Drack, Arlene V.; MacCumber, Mathew W.; Sheffield, Val C.; Traboulsi, Elias; Weleber, Richard.

In: Ophthalmology, Vol. 119, No. 11, 11.2012, p. 2408-2410.

Research output: Contribution to journalArticle

Stone, Edwin M. ; Aldave, Anthony J. ; Drack, Arlene V. ; MacCumber, Mathew W. ; Sheffield, Val C. ; Traboulsi, Elias ; Weleber, Richard. / Recommendations for genetic testing of inherited eye diseases : Report of the American academy of ophthalmology task force on genetic testing. In: Ophthalmology. 2012 ; Vol. 119, No. 11. pp. 2408-2410.
@article{23c2eb94c5f64536853f0c25fe69906f,
title = "Recommendations for genetic testing of inherited eye diseases: Report of the American academy of ophthalmology task force on genetic testing",
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.",
author = "Stone, {Edwin M.} and Aldave, {Anthony J.} and Drack, {Arlene V.} and MacCumber, {Mathew W.} and Sheffield, {Val C.} and Elias Traboulsi and Richard Weleber",
year = "2012",
month = "11",
doi = "10.1016/j.ophtha.2012.05.047",
language = "English (US)",
volume = "119",
pages = "2408--2410",
journal = "Ophthalmology",
issn = "0161-6420",
publisher = "Elsevier Inc.",
number = "11",

}

TY - JOUR

T1 - Recommendations for genetic testing of inherited eye diseases

T2 - Report of the American academy of ophthalmology task force on genetic testing

AU - Stone, Edwin M.

AU - Aldave, Anthony J.

AU - Drack, Arlene V.

AU - MacCumber, Mathew W.

AU - Sheffield, Val C.

AU - Traboulsi, Elias

AU - Weleber, Richard

PY - 2012/11

Y1 - 2012/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84868212100&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84868212100&partnerID=8YFLogxK

U2 - 10.1016/j.ophtha.2012.05.047

DO - 10.1016/j.ophtha.2012.05.047

M3 - Article

C2 - 22944025

AN - SCOPUS:84868212100

VL - 119

SP - 2408

EP - 2410

JO - Ophthalmology

JF - Ophthalmology

SN - 0161-6420

IS - 11

ER -