The promises and challenges of diagnostics in cancer care

Bio-Rad is a global provider of life science research and clinical diagnostic products with applications in the growing field of precision medicine. What do you see as the greatest benefits to cancer care from precision medicine and what are the biggest challenges?

"Cancer is unique, person to person.  It has traditionally been classified as an organ based disease and therapeutic options are based on this classification.  However, the characteristics of the disease and its progression are linked to the specific genetic changes that are contained within the tumor cells, which can vary widely.  It is this difference – the specific collection of genetic variants - that makes each cancer unique. The goal of precision medicine is to recognize those differences and then be able to treat people individually. If you can identify and interpret this unique collection of variants, you can precisely treat patients.

This is already possible with techniques such as next-generation sequencing, which helps us understand which mutations are present and which therapies apply when a specific mutation is found. But we have only a few of the answers, and this is compounded by the ability of cancer to change during treatment, in most cases, making the disease resistant to the targeted therapeutic.  This may be the greatest challenge in cancer – not only to understand its basis from person to person, but also the ways it can and likely will change. We are still in discovery mode - to a large degree we are in the early days of identifying the mechanistic pathways in which cancers are progressing and how best to treat them.

Today the estimation is that even if everyone with cancer was had a complete diagnostic test, less than 20% of those mutations that we find have a correlated therapeutic that is beneficial. More therapeutics will have to be available before we have arrived in terms of precision medicine. Just looking at the diagnostics side, the technology is still relatively expensive, complicated, and takes expertise. In a lot of geographies it will not be widely applied until we have worked out a way to make it cost-effective for the whole health care system."

Given the rising burden of cancer in low-income countries this seems as an urgent task where presently, less than 30% of low-income countries have generally accessible diagnosis and treatment services. How can we speed up the availability of diagnostics in low-income countries given the price of the new technology?

"Next-generation sequencing (NGS) is undeniably a key technology, but its implementation is still a challenge in many countries as it requires a fair amount of expertise and it is costly to set up that infrastructure. It’s not widely accessible to the general public, not even in high-income countries. But there are a lot of technologies that are actually much more cost-effective when seeking timely diagnostic test results to inform treatment decisions. Bio-Rad’s Droplet Digital PCR (ddPCR) technology is an example of a test that enables you to find known mutations in patients with cancer and match those to therapeutics that are broadly available.

Bio-Rad has very good acceptance of our tests globally because it allows oncologists to look at precision medicine in a different way by using cost-effective and relatively simple technology which can be run without a large amount of expertise.

As an example, we are in the final stages of our FDA approval for an IVD test called the QXDx BCR- ABL %IS Kit, which is a test for monitoring for Chronic Myeloid Leukemia. This kit will allow a decentralized approach for laboratories around the world to monitor disease progression in patients. Physicians want to be able to say that patients are stable and the therapy is working or that the disease is starting to progress, and have this information as soon as it is possible so that physicians can change or even discontinue their treatment. This is what this CML test will be able to do.

Beyond ddPCR technology, we also have a footprint in single–cell technology that today is still in research and requires additional testing, but it has the potential to be able to benefit a lot of pathologists who are confounded by heterogeneity. Single cell testing gives researchers an advantage to look at this phenomenon in a very objective way."

What are your thoughts about our ability to address the cancer in the future?

"Cancer is a very difficult and broad problem. We treat it as one thing, but it really isn’t. There are many different diseases under the cancer umbrella, but I feel hopeful and committed that we will find more and better solutions in the near future. By virtue of the technology we have today along with all of the information that is now coming out, we have the capability to look at this wide variety of diseases."