An Algorithm for Precision Medicine

President Obama recently launched the Precision Medicine Initiative, a confluence of efforts in data science, bioinformatics, systems biology and genomics. Precision medicine’s promise of «the right medicine to the right patient at the right time» is predicated on the assumption that a patient’s health data may be mapped directly to the «right medicine.» It is reasonable to assume that such a mapping exists (in theory), but it is not yet clear how complex the implementation of that mapping will become. With the claim that genomic data will be a key driver in precision medicine, rare genetic disorders offer a window into the genome-guided aspects of precision medicine. This talk provides a cautionary yet optimistic portrait of what full-scale precision medicine will entail, illustrated by the speaker’s first-hand experience with aftermath of the discovery that his son was the first known patient of a novel and ultra-rare genetic disorder – NGLY1 deficiency.