National DNA Day and the power of science

Ever since I can remember, science has been my constant companion and source of fascination. The process of discovery, of expanding humanity’s understanding of the universe, and of using new knowledge to improve people’s lives is truly inspirational. This inspiration was a key driver for me from an early age, was a big motivation behind my co-founding Biofidelity, and continues to play a significant role in my life. Today marks National DNA Day, which is a great opportunity to reflect on the power of science to transform our everyday lives, and on the challenges to making this a reality.

My formal scientific training was in Physics, which I studied as an undergraduate and continued through my PhD in Quantum Computing. This was a discipline which allowed me to pursue my love of problem solving, and to contribute towards meaningful research in an exciting field, but I became frustrated at the timelines required to bring this research to bear in a manner that could have a genuine human impact. 

Following my PhD I joined a startup company developing a novel DNA sequencing technology, and gained my first exposure to the fascinating world of genomics. I was immediately transfixed; here was a field rich in complexity, in unsolved challenges, and in the potential to have an immediate impact on people’s lives. A field increasingly moving towards an engineering-based approach, with the opportunity to use the wealth of tools provided by nature to benefit humanity in ways not yet imagined. This catalyzed my passion for genomics, and ultimately provided the motivation behind my co-founding of Biofidelity.

It has now been 70 years since the discovery of the double helix structure of DNA, and 20 years since the completion of the Human Genome Project. These leaps forward have had significant impacts already, dramatically expanding our understanding of biology, and leading to better diagnostics and better medicines. However, despite enormous advances over this period, both in our knowledge of genomics and in the tools used to analyze DNA, a vast amount remains to be done. 

If you take the DNA from every cell in a human body and line it up end to end, it would make an orbit around the sun larger than Neptune’s. There is a huge amount of information required to make and run a human being, and the sequence of base pairs in an individual’s genome is just part of this story. When we look at the sequencing of the human genome we risk thinking we have all the information, while in reality we are still only scratching the surface. 

The complexity of life means that there are billions of ways it can go wrong. Our focus has quite rightly been on elucidating these mechanisms and advancing our understanding of biology, however as this increasingly translates into fundamental changes in medical care, it is vital that we also focus on what is needed to ensure the impact of these transformational advances is felt beyond the privileged few.

In our work at Biofidelity, we’re thinking about the patients who don’t have access to the genomic information needed to unlock the best possible care. Even in advanced economies, the clinical reality can be far behind the research. In the US for example, as many as 65% of metastatic lung cancer patients are treated without recommended genomic test results, depriving them of access to modern targeted treatments. Genomic analysis remains complex, slow, and costly, resulting in the centralization of testing in small numbers of high-throughput, high-complexity laboratories, and limiting the benefits for patients. We founded Biofidelity to simplify genomic analysis, and to make genomic information far more accessible for the benefit of all patients.

Looking toward the future, I’m hopeful that we will find ways both to accelerate our understanding of genomic information and to ensure the benefits of the genomics revolution can be more broadly felt. We have a unique opportunity to make this happen, and to ensure that the incredible progress being made in science translates to the maximum possible human impact. Using science to help all of humanity is my mission in life and at Biofidelity, and I couldn’t be more excited to see this becoming a reality.

Written by Barnaby Balmforth, PhD, Biofidelity Co-founder and CEO