geneIQ – Genetics and Diagnostics

Point-of-care diagnostics (POC Dx) takes care at or near point of care. Currently, there are a lot of tests which are done at point of care and not in a central testing lab. There is an obvious advantage to doing so, as rapid results can lead to immediate treatment. However, not all tests are suitable for POC Dx. A reason for this is very simple, near patient tests are performed by medical personnel not trained in complicated technical procedure required for some laboratory tests. A good example of such technology would be sequencing of DNA.

However, complexity of testing is not the only reason why sequencing is not performed in a field or at patient’s bedside. Majority of the sequencing equipment is big and definitely not portable. That said, there is one notable exception Oxford Nanopore created a small and ultra small sequencer – MinIon and SmidgIon. Those are highly portable and have been used in a field to sequence viruses, bacteria and fungi. Nanopore has also recently released Voltrax, an automated library preparation device. All these factors taken together the company is positioned extremely well to achieve an amazing success in rapid diagnostics field. However, there are still a few issues:

1. Nucleic acid still needs purification
2. Direct RNA sequencing is still limited to using poly-A RNA or having to tail non poly-A RNA, thus limiting use for viral RNA sequencing
3. Bioinformatics tools are mostly community generated, which is not bad for a research product, but not for a frontline device
4. Time to result is variable, pathogen detection we envisage for POC should be a bit more of a set value

Oxford Nanopore technology has been for a long time the only small sequencing device player. However, that is no longer the case. DNAe has just released news that it received $10.98 million from BARDA to develop an alpha prototype for a POC sequencing platform for rapid diagnosis of antimicrobial resistant infections and influenza.This announcement follows a milestone achievement of sequencing bacteria directly from a blood sample. The company is using a silicon chip to detect ions, a technology very different to Nanopore. And if you think it sounds familiar, it should. DNAe technology was licensed to and is used in Ion Torrent sequencing instruments.

The ability of DNAe of sequencing directly from blood is really the key to their technology being able to effectively compete with Oxford Nanopore for a slice of portable next generation sequencing (NGS) technology. Why, I can hear you ask? In order to generate real impact in a field, any testing  as part of POC Dx has to be capable of using basic sample as input. The reason is that it will be used by people with no technical skills to isolate DNA or by those that have no facilities to do so.

How soon will the be a Nanopore competitor?

How quickly can DNAe catch up to Oxford Nanopore? This is a good question, we know very little about what stage DNAe is on at the moment or what their plans are in the long term. Are bacteria and influenza their only immediate targets? Who are they proposing to market the device to? Is it going to be a CLIA-waived test or not? So far we have a lot of questions and few actual answers but it seems that the once open field is starting to fill with competitors.

Another emerging technology is being developed by Roswell Biotechnologies, with a promise of a $100 genome. It is unclear of how soon this technology will reach the market and how effective it will be in delivering high quality human genome sequence. Once NGS will reach cost of $100 a lot of other cheap technologies may face a decline in further uptake.

As users, consumers, product managers we need to watch this space carefully as one small development can seriously alter the balance of NGS market. It is good to remember that companies like Illumina or ThermoFisher do not have at a moment a portable sequencing solution. We also rely on large laboratories performing vast majority of the NGS testing, but maybe it will soon be available to those out in a field in a form that some of the POC is available currently.