precision medicine microscope

From an art to a science: Why precision medicine matters


Oct 16, 2017

There is a clear pattern, observed over many years and in countless industries, in which the knowledge base that an industry is built upon eventually transforms from an art into a science. Over time, this type of progress turns what were seemingly impossible problems into ones with clear-cut solutions that are rules-based, reliable, and as a result more affordable.

In the earliest stages of most industries, there are so many unknowns in regards to how to solve a core problem that only skilled experts are able to cobble together adequate solutions. The work is complex and costly, while the outcomes are unpredictable, but there is little alternative when the state of knowledge is in such infancy. In the medical field, we consider this state intuitive medicine, because making progress requires intuitive experimentation and pattern recognition. Currently, Alzheimer’s disease, non-small cell lung cancer, and ALS exist within this realm.

Over time, however, patterns emerge from these experiments. Defining these patterns that best correlate intervention with desired outcomes moves the field forward, toward the realm of empirical medicine, or evidence-based medicine. In this realm, data are amassed to show that certain ways of treating patients are, on average, better than others.

Ultimately, with time and further research, these empirical solutions based in conjecture and correlation are then supplanted by solutions derived from the study of causality. With a more precise understanding of the root cause, the result of a given intervention is highly predictable and the body of knowledge enables the field to practice at a level considered to be precision medicine. In the realm of precision medicine, diseases are diagnosed precisely, and standardized therapy is predictably effective for each patient, diminishing the additional costs of variation in outcomes and in some cases highly skilled labor. This is the ultimate goal of the precision medicine movement and those seeking to improve the prognosis for those suffering from diseases in which there is currently little hope.

To see this transformation in action, consider the recent discovery by a team of researchers in the United Kingdom.

Currently, those diagnosed with pancreatic cancer have an unsettling prognosis. The median survival time after diagnosis is less than a year, and chances of surviving five years past diagnosis are below ten percent. This poor prognosis is in part because the cancer shows little to no symptoms until advanced stages. Furthermore, treatment options are neither targeted nor selective, likened to attempting to hit the disease with a mallet while both of your eyes are closed. No doubt, our efforts still fall within the realm of intuitive medicine when confronting pancreatic cancer.

With their work cut out for them, the team of researchers in the UK performed a genomic analysis of 456 pancreatic adenocarcinoma cases and identified four distinct categories of pancreatic cancer based on genetic expression: (1) squamous, (2) pancreatic progenitor, (3) immunogenic, and (4) ADEX. Each of these subtypes share similar symptoms, enough so that all are identified as pancreatic cancer, despite the distinct underlying causes apparent at the level of genetic expression.

This meticulous practice of subtyping, unglamorous as it may seem, is at the heart of the precision medicine movement. While the new research doesn’t directly result in a new solution for patients, more precise understanding of the problem based on the level of the latest subtype eliminates a layer of variation that was formerly present, making it easier for researchers to recognize patterns in treatment and more reliably gather evidence to support best practices. It helps those experts combatting pancreatic cancer get the categories right. And the added structure to the problem equips the medical field with the proper context necessary to structure further research at a more granular level and gives those developing diagnostics and therapies even more clear targets.

If we disproportionately focus on developing workaround treatments for medical conditions before adequately defining the true nature of their cause, precision solutions will only continue to elude us. By following the example of this team of researchers, those attempting to improve the prognosis of other diseases in the realm of intuitive medicine can help enable the movement toward precision diagnosis and breakthrough treatment by first setting the stage with precision understanding.

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As a Research Associate, Ryan investigates potentially disruptive healthcare delivery models and the technologies that will enable their success. He is particularly interested in health information technology and is currently researching Disruptive Innovation in the space of electronic health records.