BlueCross BlueShield of Tennessee Medical Policy Manual

Genetic Testing for Macular Degeneration

Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018


Age-related macular degeneration (AMD) is a complex disease involving both genetic and environmental (e.g., smoking) influences.  Macular degeneration is the leading cause of severe vision loss in people older than age 60 and occurs when the central portion of the retina, the macula, deteriorates. AMD is divided into the dry form, associated with slowly progressive vision loss, and the wet form, which may be associated with rapidly progressive and severe vision loss.

Testing for mutations at certain genetic loci has been proposed to predict the risk of developing advanced AMD or to guide treatment. The clinical utility of genetic testing for AMD is currently limited. There are no preventive measures that can be undertaken outside of good health practices and no known association between specific genotypes and specific therapies.




There is a lack of high-quality studies that show improvements in health outcomes in individuals identified as being at high risk based on genetic testing.


American Academy of Ophthalmology. (February 2014). Recommendations of the American Academy of Ophthalmology task force on genetic testing. Retrieved February 28, 2020 from  

American Society of Retina Specialists. (2017). The use of genetic testing in the management of patients with age-related macular degeneration: American Society of Retina Specialists genetics task force special report. Retrieved February 28, 2020 from

Blue Cross BlueShield Association. Evidence Positioning System. (4:2020). Genetic testing for macular degeneration (2.04.103). Retrieved December 15, 2020 from (16 articles and/or guidelines reviewed)

Hagstrom, S., Ying, G., Maguire, M., Martin, D., Gibson, J., Lotery, A., & Chakravarthy, U. (2015). VEGFR2 gene polymorphisms and response to anti-VEGF therapy in age-related macular degeneration. Ophthalmology, 122 (8), 1563-1568. (Level 3 evidence)

Hagstrom, S., Ying, G., Pauer, G., Sturgill-Short, G., Huang, J., Maguire, M., & Martin, D. (2014). VEGF-A and VEGFR-2 gene polymorphisms and response to anti-VEGF therapy in the comparison of AMD treatments trials (CATT). JAMA Ophthalmology, 132 (5), 521-527. (Level 3 evidence)




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