Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family

Journal of Glaucoma
Danielle L HealeyDavid A Mackey

Abstract

Glaucoma is a major cause of visual impairment and blindness in developed countries. Half of those with glaucoma are unaware that they have the disease. Mutations in the myocilin (MYOC) gene are responsible for 3 to 5% of primary open angle glaucoma, thus predictive DNA testing in family members of some glaucoma pedigrees is possible. We wished to determine the attitudes of affected and unaffected family members to the use of predictive DNA testing in glaucoma. We surveyed the attitudes of family members from one such pedigree to determine the acceptability of predictive DNA testing. We studied 72 members of a large family in which the MYOC mutation, THR377MET, segregates. Family members were examined over an 8-year period as part of research initiated to identify the gene. Once the mutation was identified, we offered participants the result of their DNA test after a genetic counseling session. Family members were subsequently given a questionnaire about the counseling and DNA result. Most wished to know their result after counseling; 26 of 27 (96%) felt the genetic counseling session was necessary, but participants' attitudes varied as to whether they preferred this in person, by phone, or letter. Forty three patients were res...Continue Reading

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Citations

Jul 3, 2013·The British Journal of Ophthalmology·T A WillisM McKibbin
Jul 29, 2006·Clinical & Experimental Ophthalmology·Alex W HewittDavid A Mackey
Jan 11, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Emmanuelle SouzeauJamie E Craig
Jul 25, 2009·Clinical & Experimental Ophthalmology·David A Mackey
Jul 10, 2009·Current Opinion in Ophthalmology·Eedy Mezer, Tamara Wygnanski-Jaffe
Oct 18, 2008·Clinical & Experimental Ophthalmology·David A Mackey
Jun 11, 2021·Translational Vision Science & Technology·Ayub QassimJamie E Craig

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