The field of genomics has surpassed expectations over the past three decades due to massive changes in technology that allowed researchers to interrogate larger pieces of the human genome.
The modern era of genomics arguably began in the mid-1980s with the development of the polymerase chain reaction (PCR) technique that enabled researchers to characterize the genome at the candidate gene level. In the early 1990s, scientists leveraged semiconductor manufacturing techniques to develop microarrays that enabled large-scale genotyping and gene expression profiling studies. In 2003, at a cost of around $3 billion, the first human genome was completed. Since then, next generation sequencing (NGS) has dramatically decreased in cost, recently breaking the barrier of $1,000 per human genome.
These enabling technologies have not only transformed genomics research, but they also opened the door to clinical genomics (i.e., molecular diagnostics). In the clinic, genomic techniques have revolutionized testing across the areas of infectious disease, cancer and inherited disease by enabling measurement of new analytes, improving analytical performance (e.g., sensitivity) and in some cases providing faster turnaround time compared with traditional testing methods.
We are only at the beginning of the genomics revolution. This Executive Insights presents nine key trends and the enabling technologies that will carry the genomics revolution through 2020.