Making widespread non-invasive genetic testing a clinical reality

There are as many DNA molecules in 1mL of blood as there are trees in the Amazon forest. 
by Rémi Dangla

Rémi Dangla, Founder Stilla Technologies

Rémi Dangla,
Founder Stilla Technologies

At Stilla, we often use this simple yet evocative comparison to illustrate the sheer quantity and diversity of genetic material that can be found in a biological sample. This profusion of information truly lies at the heart of the “genetics revolution” that is taking over biology and healthcare. For the scientists and doctors who are building the future of medical diagnostics, this means an as-yet untapped reservoir of innovations and hope.

Although the presence of circulating genetic markers had been demonstrated quite some time ago, it is only thanks to recent technical developments, for example the advent of next-generation sequencing, that we have started to apprehend what incredible wealth of information about patients health is present in a simple blood sample, in the form of millions of small fragments of DNA or RNA. Most of this DNA or RNA originate from healthy cells, but a fraction of it, sometimes present only as traces, may come from mutated cancer cells, from viruses or bacteria, in substance from any disease the patient may have.

This means that by detecting, characterizing and quantifying these fragments of genetic material, even when present in minute amounts, we can potentially diagnose diseases at early stages, or monitor a patient’s response to treatment. This very finely tuned detection of disease can therefore translate into early therapeutic intervention, resulting in improved prognosis. In short, we can significantly improve patient care and save lives.

We can significantly improve patient care and save lives.

However, the highly performant sequencing instruments that have helped reveal this amazing potential remain research tools. They are still bulky, costly, labor intensive and require highly skilled personnel, limiting the use of such innovative genetic tests to research programs or a wealthy few. Although prices are decreasing and barriers to entry are progressively lowered, high performance sequencing is not and will not become a clinical commodity in the near term.

Yet, healthcare cannot wait, and this is why at Stilla, we are developping a simple, cost-effective, clinically- implementable alternative to exploit the colossal diagnostic potential of these circulating genetic markers. Our innovative “digital PCR “ tool is exquisitely sensitive, allowing the detection of a single molecule of target DNA, for example DNA released from a tumor, amongst the amazonian forest of DNA present within our patient’s blood sample. Moreover, thanks to its digital output, its precision is unmatched compared to existing molecular techniques. The trade-off is that digital PCR can detect only a few specific genetic markers per test. Some have already been identified but many more are yet to be discovered.

Nonetheless, our digital PCR solution can already answer many crucial needs, for example in the fields of cancer monitoring or prenatal testing. We are now only months away from making widespread routine non-invasive genetic testing a clinical reality. 

After a PhD at Eole Polytechnique (2009), Rémi has directed his efforts towards the application of this novel microfluidic technology to the emerging field of digital PCR, which led to the creation of Stilla Technologies in 2013. In 2014, Rémi was nominated MIT Young Innovator under 35 by the MIT Technology Review.