From Sanger sequencing to genome databases and beyond

Abstract

Next-generation sequencing (NGS) technologies have revolutionized genomic research. Since the completion of the Human Genome Project (HGP), the sequencing of whole genomes has become cheaper, faster and more accurate. Now, whole human genomes can be sequenced in as little as a day [1]. This is something that would never have been possible with Sanger sequencing methods – the sequencing of one entire human genome in the HGP took 13 years. Leaders in the fi eld of NGS – including Illumina, Qiagen and ThermoFisher Scientific – continue to drive forward novel technologies and initiatives. One of the current focuses in this field is the development of large genomic databases for clinical research. The expectations for personalized medicine are high. In oncology, personalized medicine has huge potential with both diagnoses and treatment options being driven by different factors associated with an individual, including genetic information. The advent of genome databases is also driving research into rare and complex diseases. One such example are psychiatric disorders, which, although not necessarily rare, are often polygenetic. Therefore, comprehensive genetic information is needed to hypothesize mechanistic bases of the diseases. The potential of NGS, and genome databases, seems to be continually expanding and developing. In this tech news piece, we look at some of the current ways in which NGS is being utilized to advance research across different disease fields, assessing the outlook for personalized medicine and determining how research can be further advanced.