RNA diagnostics: more power to the patient

By July 19, 2016
cofactor genomics

Cofactor is focusing on RNA analysis with the aim of enabling early detection of various types of cancers and neurological diseases.

Quite a number of startups working in the e-health sector specialise in early detection of neurological diseases and cancers. While some such as Guardant Health base their work on blood testing, others such as Perlstein Lab and Loop Genomics are relying on the potential of the genome and drawing on the latest advances in DNA sequencing.

Meanwhile Cofactor Genomics, a St Louis, Missouri-based startup with whom L’Atelier met up at the recent Impact.Tech San Francisco gathering on preventive medicine, has developed a solution which falls mid-way between blood testing and studying the patient’s DNA – ribonucleic acid (RNA) analysis. RNA is an enzyme, a group of molecules, which plays a key role in our genetic make-up. Messenger RNA (mRNA), in particular, whose structure is fairly similar to that of DNA, plays a central role in the process by which our bodies synthesise proteins from genetic information.

L'équipe de fondateurs de Cofactor Genomics

The Cofactor Genomics founders 

Using RNA to diagnose illnesses  

Neither blood testing nor studying a patient’s DNA is an infallible diagnostic technique. When a biologist examines a blood sample, s/he looks for anti-bodies and proteins that may indicate the presence of a certain condition in the organism. However, as these two types of substance, which are simply part of the body’s reaction to an illness, may not manifest themselves until a later stage, early diagnosis can prove difficult. Moreover, certain types of medical conditions, such as Parkinson’s Disease, do not release proteins into the blood. So there are several ways in which illnesses may escape the radar. As for DNA testing, a person’s genetic make-up provides indications of his/her propensity to develop certain diseases. Studying DNA therefore makes it possible to highlight potential risks but does not help medical practitioners to work out actually what is happening at a given moment inside a person’s body.

DNA mutations are certainly responsible for triggering illnesses. However, there are other factors that influence the appearance of pathologies – such as diet, age, whether or not you play sport, etc. These dynamic elements don’t show up in a DNA study,” explained Cofactor founder and CEO Jarrett Glasscock, adding: “RNA on the other hand both gives you the genetic make-up and points up traces of the body’s activities as well. So by studying the RNA we can read these dynamic factors.”

The Cofactor team have developed an analysis platform that enables advance detection of cancers and neurological diseases. As far as the patient is concerned, the procedure is fairly similar to having a blood test. The sample is then sent to Cofactor for RNA sequencing and conclusions are drawn on this basis. “In order to create our tests, we’ve had to handle thousands and thousands of data points. During the last eighteen months, we’ve obtained clinical certification for our tests,” Jarett Glassrock told us.

Future medicine will involve the patient more closely

On paper RNA diagnostics may seem like a miracle solution for rapid detection of serious illnesses, but in fact the Cofactor team is still working to address a number of imperfections. Among other things, RNA is by nature relatively unstable, which can detract from the accuracy of the test and render the results unreliable. Revealed Jarett Glasscock: “Around 30% of the samples we receive are not of good enough quality to be tested. We’re currently working to make the technology more reliable.

Cofactor’s founder claims that the company offers a vision of what ‘Medicine 3.0’ will look like. He explains: “Medicine 1.0 is medical care as traditionally practised: an unexpected event occurs, you have to go to a hospital and may experience major changes in your life as a result.” This classic form of healthcare corresponds to a scenario where the doctor has the prime role while the patient is hardly involved, if at all, in the treatment process. “Later on came Medicine 2.0, an approach to treatment that uses the potential of DNA analysis and DNA mutations as a way of revealing a person’s predisposition to certain illnesses. This means that everyone needs to go and take a test; it could even be done at birth. This will not be a diagnosis as such but it’s about becoming aware of the probability that a given illness will manifest itself sooner or later,” Glasscock points out. So Medicine 2.0 involves the patient in the sense that s/he can choose to find out about the risks associated with his/her genetic heritage.

With RNA sequencing however, healthcare will be able to go a step further. “Medicine 3.0 really involves the patient, giving him/her the power to obtain information in real time. This approach to healthcare means constantly tracking the body’s parameters and transmitting the information to the person who is most concerned – the patient. S/he can then understand the impact external factors such as diet and taking physical exercise could have on her/his health and make adjustments accordingly,” underlined Jarret Glasscock.

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