PubMed Highlights: In a recent special issue Science discuss recent advances in human genomics, their impact for human health and future perspectives

Science Magazine has just published a special issue on the recent advances in genomics, as well as the promise and challenges of the new technologies for human health. The special issue is composed by a set of reviews discussing the main topics in the field:

• the use of new sequencing technologies for the identification of genetic mutations causing human disease and the improvements in our ability to interpret the consequences of such mutations.
• the state of the art in somatic variant detection and the impact of the new technology on cancer research
• the genetic and genomics of psychiatric diseases, reporting the difficulties in understanding the interplay of inherited genetics and spontaneous mutations in complex diseases
• the impact on mitochondrial disease research

In addition there are some commentary on ethical and privacy related challenges emerging from the wide adoption of the new genomics technologies and their use for preimplantation screens and human health care. Finally, there is a report on the recent effort from NIH to deliver personalized medicine.

A must read issue!

New Ion S5 sequencher announced

It's been a while since Life Technologies, now part of Thermo Fisher, has announced major improvements on its semiconductor sequencing platforms.

Now the company announced this new entry in its NGS sequencers portfolio: the Ion S5.
The Ion S5 looks similar to the Ion Proton and represents a compromise solution between the Proton and the PGM. The new machine will be available in two versions, standard and XL, with the XL version having more computational power.
The Ion S5 works with three different sequencing chips. As reported in the official brochure, the 3 new chips are named Ion 520, resembling the PGM 318 chip with up to 1 Gb throughput; Ion 530, up to 4 Gb; and Ion 540, similar to the Proton PI chip with 15 Gb.

The idea is clearly to offer an instrument that combines the speed and low cost of gene panel analysis with the ability to deliver human exomes and RNA-Seq data.
In this way the machine became an interesting choice to perform both cost-effective diagnostic panels based on the AmpliSeq technology, but maintaining also a research flavor with exome sequencing and counting applications.
The sequencing kits have been reconfigured and are now sold as prepacked cartridges and bottles that combines with a barcode scan system to simplify operations. Ideally the Ion S5 has to be integrated with the Ion Chef System for automated template preparation and chip loading. Moreover, thanks to a recent software upgrade, this system will also allow to prepare AmpliSeq libraries. In this way all the diagnostic (or research) AmpliSeq panels could be prepared in automated fashion from DNA to ready-to-sequence chip with minimal hand-on time, increasing standardization and performances.

It has been clear in the past few years that Ion technology delivers its best, and has more commercial opportunities, on fast and low cost targeted sequencing applications, with an expanding range of solutions available in terms of diagnostic gene panels and targeted panels for cancer research.Going this new machine in this direction, it seems clearly aimed at diagnostic applications.

With a price tag of $65K ($150K for the XL model) the Ion S5 sequencer represents a new interesting competitor in the field!