June 2013
Volume 54, Issue 15
ARVO Annual Meeting Abstract  |   June 2013
A Comparison of Two Commercially Available Genetic Tests for Age-Related Macular Degeneration
Author Affiliations & Notes
  • Nancy Holekamp
    Ophthalmology, Pepose Vision Institute, Saint Louis, MO
  • Mathew MacCumber
    Ophthalmology, Rush University, Chicago, IL
  • Arghavan Almony
    Ophthalmology, Carolina Eye Associates, Southern Pines, NC
  • Footnotes
    Commercial Relationships Nancy Holekamp, Sequenom (C), Sequenom (R), Sequenom (F), Arctic Dx (F), Allergan (C), Alimera (C), Notal Vision (C), Notal Vision (F), Regeneron (C), Regeneron (R), Genentech (C), Genentech (R); Mathew MacCumber, Genentech (C), Regeneron (C), Allergan (C), Thrombogenics (C), Optos (C), Sequenom (C), ArcticDx (C); Arghavan Almony, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 3374. doi:
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      Nancy Holekamp, Mathew MacCumber, Arghavan Almony; A Comparison of Two Commercially Available Genetic Tests for Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3374.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: To report on a series of patients in which two commercially available genetic tests for age-related macular degeneration (AMD) were performed on each subject.

Methods: One hundred and three consecutive patients were prospectively enrolled in this multi-center, IRB-approved study. Patients presented with no clinical evidence of AMD or early, intermediate, or advanced AMD. Color fundus photographs, smoking history, family history, weight and height were obtained. Two commercially available genetic tests that identify alleles associated with AMD were performed on each patient: Macula Risk (Arctic Dx, Toronto) and RetnaGene (Sequenom CMM, San Diego).

Results: Out of 103 patients, the company-provided risk calculations for advanced AMD resulting from the two tests were discordant 61 times. In all but one of the discordant cases, the RetnaGene results predicted higher risk than Macula Risk. The CFH haplotype identification between the two tests was discordant 62 times. Macula Risk never produced H3, a moderate risk allele, and appeared to mis-identify it as H4, a protective allele.

Conclusions: Two commercially available genetic tests for prediction of advanced AMD produced discordant results about 60% of the time. This may have been due, in part, to a technical problem with Macula Risk distinguishing between H3 and H4 CHF alleles.

Keywords: 412 age-related macular degeneration • 539 genetics • 696 retinal degenerations: hereditary  

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