Jens Nilson

Background

Age-related macular degeneration (AMD) is a leading cause of blindness in the world, brought on by a combination of genetic and environmental factors. Despite its strong genetic component, evidence for the efficacy and value of pre-symptomatic genetic risk testing for AMD has not been proven, and as such, is not currently recommended by the American Academy of Ophthalmology. The purpose of this study is to evaluate the efficacy of pre-symptomatic genetic testing for AMD risk by measuring carotenoid levels and lifestyle trends in participants before and after disclosure of genetic test results.

Methods

The Moran AMD Genetic Testing Assessment (MAGENTA) study is a phase 2, single-center, prospective, double-masked, randomized controlled trial. Subjects were monitored over 12 months and randomly allocated into immediate or deferred disclosure groups in a 3:1 ratio after AMD genetic testing. Skin, serum, and ocular carotenoid measurements were taken throughout the study, and social and dietary surveys were administered to evaluate lifestyle changes.

Results

Of 84 total participants, 8 were deemed ineligible after screening or lost to follow-up. Baseline data shows a 79% female and 21% male participation rate. 36% of participants tested were deemed genetically high risk for AMD, 24% tested as intermediate risk, and 40% were low risk.

Data collection for all subjects is complete, and multivariate statistical analysis is ongoing and expected to be completed by October.

Conclusion

The results of this study will provide evidence to support or refute the value of pre-symptomatic genetic risk testing for AMD. Such information will inform future practice guidelines for populations at significant risk for vision loss from AMD.