In the race for the $1,000 genome, the issue of the $1,000,000 interpretation has not been forgotten. Combing through millions of variants in a personal genome has presented numerous challenges for all parties involved: the physician looking to add genomic measurements to inform their diagnoses, the patients trying to figure out what they should be worried about, and the hobbyists interested in what their DNA means to them. Direct-to-consumer genetic testing companies such as 23andme, Lumigenix, and Navigenics offer a glimpse into the interpretation of a genome. These companies curate literature on gene-trait associations and provide attractive user interfaces to navigating a personal genotype. However, the interpretations offered by these companies often differ, not because of inherent differences in technologies, but in which variants they choose consider in their calculations. While many have taken this fact to indicate a weakness of the genetic testing industry (and indeed, it is one that needs to be addressed), it is also a reflection of the dynamic nature of the field.
The site provides an open-source framework for personal genome interpretation, demonstrating the power of genotyping for ancestral and clinical analysis (though it should be noted that this service, like 23andme, should not be used for diagnostic purposes and is not approved by the FDA). We also feature an exploratory section, mirroring the lectures of the course, as well as other analyses of interest and an option to upload your own analyses. In here, you’ll find the fun Neandertal calculator, to calculate your number of alleles likely derived from Neandertal (according to Green et al.).
As new results like this one pop up, this open framework will allow users to customize their analyses based on their interest. Explore your genome at www.interpretome.com.