Abstract
There is great variation in drug-response phenotypes, and a “one size fits all” paradigm for drug delivery is flawed. Pharmacogenomics is the study of how human genetic information impacts drug response, and it aims to improve efficacy and reduced side effects. In this article, we provide an overview of pharmacogenetics, including pharmacokinetics (PK), pharmacodynamics (PD), gene and pathway interactions, and off-target effects. We describe methods for discovering genetic factors in drug response, including genome-wide association studies (GWAS), expression analysis, and other methods such as chemoinformatics and natural language processing (NLP). We cover the practical applications of pharmacogenomics both in the pharmaceutical industry and in a clinical setting. In drug discovery, pharmacogenomics can be used to aid lead identification, anticipate adverse events, and assist in drug repurposing efforts. Moreover, pharmacogenomic discoveries show promise as important elements of physician decision support. Finally, we consider the ethical, regulatory, and reimbursement challenges that remain for the clinical implementation of pharmacogenomics.
Highlights
A child with leukemia goes to the doctor’s office to be treated
One of the drawbacks is that these predictions are most accurate in a Caucasian population; additional research is needed in populations of different ancestries in order to produce a more broad-spanning pharmacogenetic algorithm
Pharmacogenomics encompasses the interaction between human genetics and drugs, which can be affected by variation in genes involved in pharmacokinetics (PK) and pharmacodynamics (PD)
Summary
A child with leukemia goes to the doctor’s office to be treated. The oncologist has decided to use mercaptopurine, a drug with a narrow therapeutic range. In the case of pharmacogenomics, the trait is an actual drug dose, response, or adverse event profile, though the study design should be carefully considered for the specific application (see below: Methods). As sequencing technologies become exponentially cheaper and the ‘‘$1,000 Genome’’ becomes an attainable goal, whole-genome or exome sequencing will soon become commonplace in pharmacogenomic studies. As these types of studies become less expensive and more mainstream, pharmacogenomics will transition from an interesting research topic to a main role player in pharmacological development and clinical application. Application of pharmacogenomics to a clinical setting will require the education of physicians in the utility of genome sequencing or genotyping for the benefit of their patients. While still in its early phases, pharmacogenomics will undoubtedly lead the way in the development of personalized medicine
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