Implementing Clinical Pharmacogenetics: Point-of-Care and Pre-Emptive Testing

Although the field of pharmacogenetics was established over 50. years ago, clinical testing for germline pharmacogenetic variants implicated in interindividual drug response variability has only recently become available to help physicians guide pharmacotherapy. However, despite robust pharmacogenetic associations with medication efficacy and/or adverse effects, physician adoption of clinical pharmacogenetic testing has not been widespread. This is likely due to a number of factors including a lack of professional education and practice guidelines, concerns over clinical utility, regulatory and reimbursement issues, and the feasibility of integrating rapid turnaround-time genetic testing into routine clinical practice. To address the specific challenge of testing feasibility and turnaround time, both point-of-care and pre-emptive pharmacogenetic testing programs have recently been deployed in selected clinical contexts and academic centers. This chapter aims to review pharmacogenetic testing implementation with a focus on the germline genetic variants that are implicated in drug response variability and their use at the point of care.