Direct-to-Consumer Personal Genome Testing for Age-Related Macular Degeneration

Gabriëlle Buitendijk, Najaf Amin, Bert Hofman, Cornelia Duijn, Hans Vingerling, Caroline Klaver

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Scopus)


PURPOSE. Genetic testing may be the next step in clinical medicine for a more personalized approach in determining risk of disease. Direct-to-consumer (DTC) personal genome tests may fulfill this role. We explored the practicability and predictive value of DTC tests from four companies (23andMe, deCODEme, Easy DNA, Genetic Testing Laboratories) for AMD. METHODS. Body specimens of three individuals were collected and sent to 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 Three Continent AMD Consortium. RESULTS. Genotyped results of the four 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% to 16.1% in the DTC tests, while they varied from 0.5% to 4.2% in the validated prediction model. Most important reasons for the differences in risks were the testing of only a limited set of genetic markers, the choice of the reference population, and the methodology applied for risk calculation. CONCLUSIONS. 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.
Original languageUndefined/Unknown
Pages (from-to)6167-6174
Number of pages8
JournalInvestigative Ophthalmology & Visual Science
Issue number10
Publication statusPublished - 2014

Research programs

  • EMC NIHES-01-64-03
  • EMC OR-01-60-01

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