Moving Toward Personalized Medicine
Researchers at Roche NimbleGen and 454 Life Sciences believe a key milestone for personalized medicine has been achieved via the application of novel technologies to resequence all human exons from individual genomes. Roche NimbleGen launched Sequence Capture 2.1M Human Exome microarrays, built on the HD2 platform, which allows researchers to capture all exons in the genome (i.e., the exome) on a single array with 2.1 million long oligonucleotide probes.
“Coupled with the Genome Sequencer FLX system from 454, life science investigators now have the capability to assess genetic variation within the exome of any individual,” notes Gerd Maass, CEO of Roche NimbleGen.
Exons are the most functionally relevant portion of the genome and are comprised of short segments of DNA that provide the genetic blueprint for proteins. As such, exome sequencing enables the discovery of much of the functional variation that is responsible for many common and rare diseases. Exome sequencing research is also expected to shed light on why diseases like diabetes occur more often in certain populations, and can help uncover why drugs are effective only in a subset of the individuals or population.
“Prior to the release of NimbleGen Sequence Capture Human Exome microarrays, the sequencing of the exome was neither technically nor economically feasible, as conventional PCR methods for the preparation of all human-coding exons are expensive and time-consuming,” continues Maass.
“In 2009, the technologies of Roche NimbleGen’s Sequence Capture and the 454 Sequencing System have made complete human exome sequencing a reality, and can ultimately produce technology to feed the research pipeline and nourish the development of personalized healthcare.”
Maass explains that offering reliable next-generation tools can lead to dramatically reducing the costs of DNA sequencing and opens up new and quicker means for discoveries about biological disease pathways.
“In the future, these types of technologies, and the data and knowledge they provide are expected to allow comprehensive understanding of any information from the genome and enable personalized healthcare strategies for diagnosis, prevention, and treatment,” he says.