Next Generation Sequencing

On the 16th I visited the Saϊd Business School in Oxford to witness a live demonstration of the latest product from the Oxford Nanopore labs, hosted by the CEO, Dr Gordon Sanghera.

The demonstration was followed by an equally fascinating talk by Neil Ward of Illumina, who hold the dominant market share in sequencing technology, about engaging the power of NGS in clinical diagnostics. The usefulness of this information was then highlighted by Steven Little, of Premaitha Health, and Dr Anna Schuh, of the Molecular Diagnostics Centre at the University of Oxford. 

After a short introduction by the president of OBR Oxford Chapter, Mina Elisha Bekheet, who highlighted the importance of the development of sequencing techniques, it was time for Oxford Nanopore to take the stage. It came as a surprise to some in the audience that there would be a live sequencing during Dr Sanghera’s talk. We were introduced, both visually and verbally, to MinION - a small, portable device used to analyse single molecules such as DNA, RNA and Proteins. What was most striking was the speed and simplicity of the device. Connected to a laptop via a USB cable, and only slightly bigger than a USB stick, we could see within minutes a histogram of data relating to the length of the individual strands to be sequenced. What is interesting is that instead of adopting traditional sequencing methods, it uses cutting edge Nanopore technology. The futuristic looking piece of technology seems to just be the start for Oxford Nanopore, as they have bigger and more powerful products on the way!

This was followed, rather fittingly, by Neil Ward from Illumina. Their method of sequencing by synthesis is the most widely adopted, and in their view successful, technology worldwide. They can boast a huge 98% accuracy with potential for high sequence yields; and are the world leader in sequencing technology. Illumina are engaging in NGS, especially with their MiSeqDx Instrument. Although it is far more expensive than the technology available by Oxford Nanopore, it is the first and only FDA-cleared in vitro diagnostic system. The main focus of Mr Wards talk was the application of NGS in the early diagnostics of cancer and rare diseases, and giving rise to the age of personalised medicine.The final two talks of the evening, from Steven Little and Dr Anna Schuh, were based on assessing the clinical utility of sequenced information. Whereas the first two talks were the features of two very different sequencing methods, here, the focus was on how the act of sequencing can benefit us. Dr Schuh actually went as July 2014, attending an event on Next Generation Sequencing (NGS) at far as to say ‘Sequencing is a doddle.. it is assessing the clinical utility which is the REAL challenge’. In stark comparison to Moore’s law, which predicts that the cost of computing will decrease with time, Stuart Little proposed his own law: ‘The cost of understanding something worthwhile will not change over time’.

As I sat on the especially slow 21:32 train back to London, I felt a sense of inquisition regarding NGS. Should the emphasis be on making the technology affordable, accessible and convenient for everyone? Or should we now focus our resources on implementing its uses, using pre-existing methods of synthesis? The scope for NGS seems boundless, and as I pulled into Paddington station and trudged up the platform in a dazed stupor, I couldn’t wait to find out.

By Shahid Dharamsi