The diagnosis and treatment of human diseases and the development of new drugs increasingly rely on our ability to determine patient genotypes using accurate and sensitive pharmacogenomic tests. Many PCR and next-generation sequencing (NGS) based assay platforms are currently available.

However, the type of DNA sequence variants, the number of targets, and the sensitivity requirements are highly diverse in different studies. Here Dr. Peter Zhang describes the design, performance, and regulatory considerations of several assay platforms that are accurate, high throughput, cost-effective and customizable. These platforms provide high-quality pharmacogenomic data ideally suited to meet the needs of individual studies.