Automated Metabolic Phenotyping of Cytochrome Polymorphisms Using PubMed Abstract Mining

Pharmacogenetics-related publications, which are increasing rapidly, provide important new pharmacogenetics knowledge. Automated approaches to extract information of new alleles and to identify their impact on metabolic phenotypes from publications are urgently needed to facilitate personalized medicine and improve clinical outcomes. Cytochrome polymorphisms, responsible for a wide variation of drug pharmacodynamics, individual efficacy and adverse effects, have significant potential for optimizing drug therapy. A few studies have addressed specialized efforts to automatically extract cytochrome polymorphisms and their characterizations regarding metabolic phenotypes from the literature. In this paper, we present a novel rule-based text-mining system to extract metabolic phenotypes of polymorphisms from PubMed abstracts with a focus on cytochrome P450. This system is promising as it achieved a precision of 85.71% in a preliminary proof-of-concept evaluation and is expected to automatically provide up-to-date metabolic information for cytochrome polymorphisms, which is critical to advance personalized medicine and improve clinical care.