DNA Sequencing Grows Faster and Stronger

Doctors have taken a massive step forward in diagnostic methods by using existing DNA sequencing techniques in a novel way. A New York Times report details the complex symptoms that put a 14 year old boy, Joshua Osborn, in an induced coma while doctors searched for a diagnosis. When other tests were unsuccessful, Joshua’s parents agreed to have their son enrolled in a research study for pathogen detection and discovery. The study used next-generation DNA sequencing to scan patients’ DNA for pathogens. In Joshua’s case, the sequencing identified the culprit responsible for his failing health, an obscure species of bacteria called Leptospira. The diagnosis led doctors to a simple antibiotic treatment that had Joshua back on his feet in a few weeks.

DNA Sequencing

The researcher’s method was published in the Journal of Genome Research. In that publication, researchers detailed what makes their version of next-generation sequencing special: speed and scope. Usually, DNA sequencing is too cumbersome and time consuming to be used in a lifesaving scenario, as it was in the case of Joshua. The new approach, which is the start of a future the FDA has predicted since at least 2011, seeks to use an enormous collection of data, stored on cloud servers, which can be rapidly accessed and cross referenced with a patient’s DNA to detect harmful pathogens. Joshua’s case is somewhat of an outlier from the typical DNA sequencing diagnosis because of the method employed. Instead of looking for a particular gene or genetic marker, the researchers scanned Joshua’s DNA to look for anything that didn’t match. When they found something that wasn’t Joshua’s DNA, they were able to identify it as bacteria and begin treatment.

FDA

The FDA has approved some sequencing devices, however it has yet to approve any of the type that were used to diagnosis Joshua. Most sequencing devices are specific in their focus. For example, in 2013, the FDA approved two DNA sequencing devices that were designed with the specific goal of identifying the transmembrane conductance regulator gene which can result in cystic fibrosis. While the technology is similar, those approved devices have a narrower application. The FDA has approved some universal sequencers, for example, the Illumina MiSeqDx instrument platform and the Illumina Universal Kit reagents, which allow sequencing of any part of a patient’s genome. However, none of the approved devices have the speed or data collection to make them effective for timely regular diagnostic use. Yet, with all the fervor surrounding DNA sequencing and the success stories of patients like Joshua, a comprehensive cloud-based diagnostic sequencing device is likely to be knocking on the FDA’s door in the coming years.

Other Uses

DNA sequencing has seen success in other areas as well, specifically with disease outbreaks. With the development of more rapid sequencing procedures, researchers have studied applying sequencing to infectious disease outbreaks in order to identify and isolate disease carriers. For example, one case, reported in the New England Journal of Medicine, looked at the feasibility of using sequencing in real time to identify and control a methicillin-resistant Staphylococcus aureus (MRSA) outbreak in a hospital. The researchers determined that the technology could be effective in real time to strengthen responses to outbreaks of diseases like MRSA. In other words, sequencing is quickly gaining traction and the trend suggests it will soon be an integral or even an everyday part of biomedicine.