Opening the gate for genomics data into clinical research: a use case in managing patients’ DNA samples from the bench to drug development

Abstract

The use of human genetic polymorphism data in drug development is not a recent event. Typically, the detection of patients' genetic variations in drug-metabolizing enzymes has become common practice in clinical laboratories. What is new is the scale and diversity of genomics data that has entered into the drug research and development decision-making process. At least three concurrent events contribute to this paradigm shift: first the growing body of evidence that establishes that interindividual variation in both therapeutic response and adverse events are attributable to a genetic component; second the technological progress that enables the consistent and reproducible detection of human genomic quantities; third the expectation that the productivity of new drug development will be increased by identifying which patients would benefit from candidate therapies early in the clinical process. This influx of human genomics data into clinical laboratories requires some logistical adjustment in terms of data management. The major specifications of an information solution system intended for a clinical genomic laboratory are its compliance with regulatory procedures, regarding the handling of human genetic data and its subsequent integration into an existing clinical data management system from the hosting institution. The purpose of this article is to inform the community of the challenges in setting up a center for genomics data that ensures accurate, traceable and integrated data for laboratory management. This is by no means the only way to accomplish the same goal, and is simply presented as one way that Pfizer chose to solve these issues.