Transforming cancer treatment with precision medicine

We are entering a new era of precision medicine, where technological advances may revolutionise the field of cancer treatment by making sure every patient receives the right individualised therapy at the right time — and the impact on patients will be enormous, writes Barnaby Balmforth, CEO of Biofidelity. 

Over the past two decades, DNA sequencing has transformed our understanding of cancer. Knowledge of the genetic pathways that drive disease enabled the development of new therapies that directly target specific genetic mutations. The result is individualised cancer treatments that offer better outcomes for patients, with fewer side effects and an improved quality of life. 

There are now dozens of approved therapies that target specific genetic mutations, covering many different genes. In order for physicians to provide the most effective treatment to their patients, accurate testing of these genes is required in each case. This enables individualised treatment plans, providing the best possible outcomes for all patients — but also presents enormous challenges to healthcare systems, physicians and diagnostic test providers around the world. 

Despite our understanding of what information physicians need to treat patients most effectively, we still lack the technology to quickly and easily unlock that information. Because of this, fewer than 50% of patients in the US who could benefit from targeted therapy actually undergo the genetic testing needed. In the rest of the world the number is far lower.

Understanding the Problem

I have always had a passion for technology, and for finding novel approaches to solving complex, real-world problems. My training and research as a physicist provided an excellent focus for this, but it was not until I moved into the genomics field that I began to truly appreciate the scale of the direct impact that technology can have on human lives.

My journey into genomics began with a position as a physicist at a DNA sequencing start-up company, where I was fortunate enough to work alongside some truly amazing individuals with a wealth of expertise in the field. In the process I found that, much like the physical sciences in which I had trained, the field of genomics has a wide range of complex yet well-defined challenges that remain to be solved.  

Over the years, the founder of the company and I acquired a distinctive set of know-how in molecular biology, and we began to explore how this expertise might be used to address key challenges in pharmaceutical development and diagnostics. Through discussions with companies and researchers in the field, we became aware of a critical need: current methods of genetic testing in oncology are too complex, slow, and expensive to enable most patients to access the benefits of precision therapies and to receive the optimal treatment for their disease. 

Barriers to Biomarker Testing

Current testing options for identifying targetable genetic mutations have significant limitations. At one end, there is real-time PCR, a fast and inexpensive technology that is widespread in laboratories worldwide (and has been applied extensively in testing for COVID-19). But at most, PCR can only test small numbers of mutations across a few genes at a time, and its sensitivity makes it unsuited to blood-based diagnosis, leaving it far too limited to address the needs of modern oncology. 

In contrast, DNA sequencing provides a wealth of genetic information, across hundreds of genes. Yet this technology remains complex, slow, and costly, and most of the information it produces does not actually help clinicians to make treatment decisions for their patients. This results in reports that are hard to interpret, and tests that often cost as much as $5,000 per patient. 

For laboratories, sequencing requires large investments in instrumentation, staffing, bioinformatics, and related infrastructure — all significant barriers to widespread adoption that result in the centralisation of testing in a few large centers. Partly as a result of this, it takes an average of five weeks from the time a biopsy confirms a cancer diagnosis to the clinician having the information needed to initiate therapy. When dealing with a devastating diagnosis like cancer, this is an unacceptably long wait that can have a significant impact on patient outcomes, as well as add enormous psychological stress. 

Designing the Solution

Here was a clearly defined problem with an urgent need for a solution, one that could significantly improve, or in some cases even save, patients’ lives. This inspired us to design a new technology that overcomes the limitations of PCR, while maintaining its simplicity, speed, and ease of adoption. At its core, Biofidelity’s ASPYRE technology attempts to solve the key problems in cancer diagnostics: how to detect small genetic changes with extreme sensitivity, in a way that can scale to large numbers of genes without incurring the high costs and complexity of sequencing. 

Yet conceiving a new technology and making it work are two very different endeavors. At Biofidelity, we are fortunate to have built a world-leading development team who have performed the hard work necessary to make this concept a reality. They have achieved an enormous amount in a short period of time to prove the technology’s capabilities, while solving numerous complex challenges along the way. 

Thanks to the talents of the entire Biofidelity team, we are closer than ever to achieving our mission: ensuring that every oncologist — from those in prestigious academic institutions to those in small community cancer centers — can utilise comprehensive biomarker testing to make rapid, precise treatment decisions and offer their patients better outcomes. 

The Impact

For the first application we focused on the cancer in which targeted therapy and precision medicine can have the biggest, most immediate impact: lung cancer, or more specifically non-small cell lung cancer (NSCLC). Around 10% of all cancers are lung cancer, yet it accounts for almost 25% of cancer deaths, with more than 75 per cent of cases diagnosed at stage III and IV. The majority of lung cancer patients have tumors with mutations that can be targeted by new precision treatments, and it is the cancer that has both the most approved targeted therapies and the largest number of actionable biomarkers.

But this is merely the first application in a pipeline of precision oncology diagnostics, as there are many other cancers in which the ASPYRE technology can significantly improve access to the information needed for optimal treatment. There is also the opportunity to expand the technology across the continuum of cancer care to include both repeat testing to monitor patients over the course of treatment and as a screening tool to detect cancer at earlier stages. 

At Biofidelity we believe that every patient deserves to have the very best treatment options, and the technology we developed represents a major step forward in achieving this vision. We are excited to now be bringing this to reality as we launch our first products, with the potential to have an enormous impact in patients’ lives around the world.