McCarty Catherine A, Fuchs Michael J, Lamb Allan, Conway Pat
University of Minnesota Medical School, Duluth, Minnesota.
Department of Optometry, Essentia Health, Duluth Minnesota *
Optom Vis Sci. 2018 Mar;95(3):166-170. doi: 10.1097/OPX.0000000000001188.
The American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases such as age-related macular degeneration (AMD). The results of this study demonstrate that patients are very interested in predictive genetic testing for AMD, find the information useful, and make behavioral changes as a result of the information.
The goal of this project was to conduct a pilot AMD genomic medicine study.
Eligible patients were aged 50 to 65 years with no personal history of AMD. DNA samples were genotyped for five single-nucleotide polymorphisms (SNPs) in the CFH gene, one SNP in the ARMS-2 gene, one SNP in the C3 gene, and one SNP in the mitochondrial ND2 gene. A risk score was calculated utilizing a model based on odds ratios, lifetime risk of advanced AMD and known population prevalence of genotype, haplotype, and smoking risk. The study optometrist provided the patient's risk score and counseling for personal protective behaviors. Telephone interviews were conducted 1 to 3 months after the counseling visit.
One hundred one subjects (85%) participated in the genetic testing; 78 (77.2%) were female. Follow-up interviews were conducted with 94 participants (93.1%). More than half (n = 48) of the participants said that they were motivated to participate in the study because they had a family member with AMD or another eye or genetic disorder. Despite low risk levels, many participants reported making changes as a result of the genetic testing. Twenty-seven people reported making specific changes, including wearing sunglasses and brimmed hat and taking vitamin supplements. Another 16 people said that they were already doing the recommended activities, including wearing glasses, quitting smoking, and/or taking vitamins.
Interest in genetic testing for future risk of AMD was high in this population and resulted in support to continue current health behaviors or incentive to improve behaviors related to eye health.
美国眼科学会目前不建议对年龄相关性黄斑变性（AMD）等复杂疾病进行常规基因检测。本研究结果表明，患者对AMD的预测性基因检测非常感兴趣，认为该信息有用，并因此做出行为改变。
本项目的目标是开展一项AMD基因组医学试点研究。
符合条件的患者年龄在50至65岁之间，无AMD个人病史。对CFH基因中的五个单核苷酸多态性（SNP）、ARMS-2基因中的一个SNP、C3基因中的一个SNP以及线粒体ND2基因中的一个SNP进行基因分型。利用基于比值比、晚期AMD终身风险以及已知基因型、单倍型和吸烟风险的人群患病率的模型计算风险评分。研究验光师为患者提供风险评分并就个人防护行为进行咨询。在咨询访视后1至3个月进行电话访谈。
101名受试者（85%）参与了基因检测；78名（77.2%）为女性。对94名参与者（93.1%）进行了随访访谈。超过一半（n = 48）的参与者表示，他们参与研究的动机是他们有患AMD或其他眼部或遗传疾病的家庭成员。尽管风险水平较低，但许多参与者报告称由于基因检测而做出了改变。27人报告做出了具体改变，包括佩戴太阳镜和宽边帽以及服用维生素补充剂。另外16人表示他们已经在进行推荐的活动，包括戴眼镜、戒烟和/或服用维生素。
该人群对AMD未来风险的基因检测兴趣较高，这支持了继续当前的健康行为，或促使他们改善与眼部健康相关的行为。
