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The promise of complex disease genomics has been fulfilled by insight into basic biology and through the validation of human genetics as a vehicle for drug discovery. There has also been hope for many years that genetic risk scores would improve and direct clinical management. This has so far not been realized. Indeed, when we first built algorithms for analyzing a human genome back in 2009, one of our focuses was genetic risk scores. In 2010, when we extended those approaches to families using inheritance models, we also extended the approach to the comparison of complex risk alleles with standard populations. However, we simply did not know enough about the architecture of complex disease at that time for these scores to be truly valuable. That however is changing. For some diseases like diabetes or coronary artery disease, enormous progress has been made and we are on the cusp of scores that can truly inform clinical practice and create the precision medicine we all crave. Finally, you refer to smartphones, as these scores are available, a smart phone app can absolutely be the vehicle to deliver them direct to the people that matter most.


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