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This meeting has been awarded 20 CME credits

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Direct-to-consumer personal genome testing for age-related macular degeneration

Session Details

Session Title: AMD II

Session Date/Time: Friday 12/09/2014 | 08:00-10:00

Paper Time: 08:16

Venue: Boulevard D

First Author: : C.Klaver THE NETHERLANDS

Co Author(s): :    G. Buitendijk   N. Amin   A. Hofman   C. van Duijn   J. Vingerling  

Abstract Details


Direct-to-consumer (DCT) personal genome tests are currently widely available for consumers via the internet. We explored the practicability and predictive value of DTC tests from four companies (23andMe, deCODEme, Easy DNA, Genetic testing laboratories) for age-related macular degeneration (AMD).




Body specimens were collected and sent to the four companies for DNA genotyping and disease risk estimation. In addition, DNA was also genotyped using Illumina HumanOmniExpress 12v1 array in the Rotterdam Study laboratory, and risk estimates of AMD were calculated using the validated prediction model from the population-based 3-Continent AMD Consortium.


Genotypes of SNPs which were tested in the DTC tests matched genotyping performed by the Rotterdam Study laboratory. The estimated risks provided by the companies varied considerably in the tested individuals, from a 1.6-fold difference for overall relative risk to an up to 12-fold difference for lifetime risk. The lifetime risks for the individuals ranged from 1.4-16.1% in the DTC-tests, while they varied from 0.5-4.2% in the validated prediction model. Most important reasons for the differences in risks were inclusion of only a limited set of genetic markers, the choice of the reference population, and the methodology applied for risk calculation.


Direct-to-consumer personal genome tests are not suitable for clinical application as yet. More comprehensive genetic testing and inclusion of environmental risk factors may improve risk prediction of AMD.

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