AMD Pharmacogenetics

Vita Risk  Pharmacogenetic Result

The Vita Risk pharmacogenetic result within the Macula Risk PGx test is intended to support the genotype-directed selection of appropriate eye vitamin formulations. The eye vitamin formulation (AREDS, antioxidants alone, or zinc alone) shown to result in the greatest reduction in the risk of progression to advanced AMD for the patient’s combined CFH/ARMS2 genotype is recommended [16].
The Vita Risk pharmacogenetic result is covered by US Patent application number: 13/955502

Test Results

The Vita Risk pharmacogenetic result is provided on the second page of the Macula Risk PGx Laboratory Report. A sample eye vitamin recommendation with key features highlighted is shown below:

Results Table

The Vita Risk Pharmacogenetic Result sample above shows:

Three genetic markers (SNPs) in two genes are measured for the pharmacogenetic analysis.
Genetic results for each SNP. The combined genotype dictates the appropriate ocular vitamin recommendation.
Vitamin Recommendation: vitamin formulation shown to provide the greatest benefit for the patient’s combined genotype.
Description of clinical data supporting pharmacogenetic selection of ocular vitamins.

A patient’s optimal vitamin formulation depends upon the presence and number of AMD risk alleles in the CFH and ARMS2 genes [16]. Individuals may possess 0, 1, or 2 risk alleles for both the CFH and ARMS2 genes. With three possible genotypes for each gene, there are nine (3×3) possible combined CFH/ARMS2 genotypes. The table below shows the frequency for each of the nine CFH/ARMS2 genotypes in the AREDS study population along with the optimal formulation.

CFH Risk
ALLELES

ARMS2
ALLELES

Optimal
Treatment

Study
Frequency

1 1 AREDS 23%
0 0 Zinc Alone 6%*
0 1 5%
0 2 1%
1 2 7%
1 0 Antioxidants
Alone
22%
2 0 12%
2 1 17%*
2 2 7%*

*No statistical treatment benefit observed

 

The proportions of the population that should take zinc alone, the AREDS formulation, or antioxidants alone are estimated to be 13%, 23% and 36%, respectively [16]. For the remaining 28% of patients, none of the 3 formulations provided a statistically significant benefit over placebo. In these instances, the formulation that trended towards providing a benefit is recommended.