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Ophthalmic ophthalmology
Author(s) -
Mccarty C.
Publication year - 2017
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2017.02181
Subject(s) - single nucleotide polymorphism , medicine , genetic testing , genetic counseling , population , snp , informed consent , family history , family medicine , ophthalmology , genetics , gene , genotype , alternative medicine , environmental health , biology , pathology
Summary How Do Patients Respond to Genetic Testing for AMD? The goal of this project was to conduct a pilot AMD genomic medicine study. Eligible patients aged 50‐65 with no personal AMD history gave informed consent and DNA samples were genotyped for 5 single nucleotide polymorphisms ( SNP s) in the CFH gene, 1 SNP in the ARMS ‐2 gene, 1 SNP in the C3 gene and 1 SNP in the mitochondrial ND 2 gene. The study optometrist provided risk scores and counseling for personal protective behaviors. 101 (85%) participated; 78 (77.2%) were female. The smoking status was: 67 (66.3%) never smoked, 31 (30.7%) former smokers, and 3 (3.0%) current smokers. More than half (n=48) of participants said they were motivated to participate because they had a family member with AMD or another eye or genetic disorder. Despite low risk levels, many participants made changes as a result of the genetic testing. Twenty‐seven people reported making specific changes, including wearing sunglasses and brimmed hat, or taking vitamin supplements. Another 16 people said that they were already doing the recommended activity(ies). Interest in genetic testing for future risk of AMD was high in this population and led to continuation or improvement of eye health behaviors.