Pharmacogenetics: practices and opportunities for study design and data analysis

Pharmacogenetics (PGx) is increasingly used as a way to target treatment to patients who are most likely to benefit. To date, PGx has shown clinical significance across a few applications but widespread use has been limited by the need for further technical, methodological and practical advances and for educating clinical researchers on the value of PGx. Here, I describe the current scope of PGx research, including recent contributions to prospective study design. A case study is included to demonstrate the limitations of current practice and to describe some practical steps for improving the chances of identifying genetic effects. Additionally, I describe some opportunities for the integration and application of disparate data sources in exploratory PGx research.