The future of medical diagnosis is now

Ellie Blake explains how genes, proteins, and iPhones are shaping the way we tackle disease

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In the endeavour to increase the efficacy of diagnostic tools used in the clinic, the need for the introduction of modern diagnostic technologies is now greater than ever before. Over the past few years, media attention has been drawn to a number of new and innovative molecular tools that have generated widespread excitement about their potential use in a clinical setting.

One example of this type of technology is the Biomeme two3TM device, highlighted by a recent Nature technology feature as a perfect example of the direction that diagnostic techniques should be moving in. This is an attachment that can be fixed onto an iPhone 5S to carry out amplification and analysis of DNA and RNA in the field in less than an hour, without the need for WiFi or a mobile data connection. It has a huge amount of potential to be used to detect the presence of known pathogens, seen in field trials in the Everglades National Park, where the technology was used to successfully detect RNA viruses in mosquitoes. Although this device is currently marked as being for research use only, its potential for use in disease diagnostics is evident. The company plans to move a number of its products through the US regulatory system in the near future, but until FDA approval is given, it remains to be seen whether this technology will have as much success in the healthcare system as is expected.

Another very promising technique, described as ‘antigen surrogate’ technology, has been developed in work carried out at The Scripps Research Institute. This involves synthesising huge numbers of peptoids—a type of small protein chain—for their ability to bind to antibodies produced in response to a specific pathogen. Artificially utilising this ability facilitates the detection of diseases which have poorly understood biochemistries, as the target antigen doesn’t need to be known to obtain the peptoids that are successful in detecting the disease. Recently, the team that developed this technology displayed its success in detecting neuromyelitis optica (NMO—a disease characterised by swelling of the optic nerve) in the blood serum of known patients. This binding was seen only in NMO sufferers, allowing an efficient and clear result for distinguishing affected individuals. As current diagnostic tests require the antigen to be known and administered to detect whether the relevant antibodies are present in the blood, the introduction of devices that use this method of detection would be a huge step in diagnosing diseases for which the antigen isn’t known.

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While the technologies described above have gathered a huge amount of attention both in the media and the scientific community, it can be hard to visualise their impact on healthcare, as both are in the early stages of development. It can also be said that while they hold a huge amount of potential for increasing the ease and efficacy of diagnosis, they are not particularly reflective of the extent of the diagnostic revolution that is currently taking place and has already had a huge impact on our approach to medicine.

One of the biggest diagnostic ventures that is currently being carried out is the 100,000 Genomes Project, launched in 2012 and undertaken by Genomics England. This enormous project aims to sequence 100,000 genomes from 70,000 participants, mainly consisting of NHS patients suffering from rare diseases, as well as their family members. The incorporation of vast amounts of sequence data into the current system of medical records opens up many doors for improving care, such as identifying genetic variants that may indicate responsiveness to a certain treatment. For diagnostics in particular, the implications of this type of project are huge. Identification of rare and poorly understood diseases will improve significantly as any characteristic genetic markers are found.

The implications for the progress of disease diagnostics that these newly developed techniques present are truly exciting, and they show that there is a lot of scope for increasing the ease of diagnosis. The attention surrounding these approaches indicates a general attitude of shifting diagnostics towards a more modern, efficient and technology-based style of healthcare, which is a much-needed step for professionals and patients alike.