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Precision medicine: How an evolving definition has helped advance clinical accuracy

Clearly, the concept of personalized medicine needed some reworking; and so the concept of “precision medicine” was established as a more explicit way to describe the shift that was occurring.


“Precision medicine gives us the chance to marry what’s unique about America – our spirit of innovation, our courage to take risks, our collaborative instincts – with what’s unique about Americans – every individual’s distinctive genetic makeup, lifestyles, and health needs. In doing so, we can keep ourselves, our families, and our nation healthier for generations to come.”

Former President of the United States Barack Obama penned these words within a Boston Globe op-ed just over one year ago, emphasizing how precision medicine has the potential to deliver the right treatments in the right dosage at the right time — every time. This approach to medicine is quickly emerging as the healthcare approach of tomorrow, and will have important ramifications for the entire healthcare ecosystem, including for clinical laboratories.

So many of today’s medical advances are rooted in laboratory data, where the digital component lies in the numbers derived from clinical tests. In addition to laboratory data, genomics and digital imaging have also become mainstream. The potential for these three components, when coupled with the clinical brainpower of a pathologist and the IT prowess of today’s data engines, are creating an ideal situation for precision medicine to revolutionize medicine as we know it.

But to fully understand the meaning of precision medicine today, we need to look at the evolution of the terms personalized, precision and genomics medicine and how this progression led us to the current definition that we know today.

The introduction of personalized medicine

When personalized medicine was first introduced, it was touted as a trend that would reshape medicine through the customization of healthcare decisions and practices based on a patient’s unique genetic makeup. However, while the industry has been discussing the concept of personalized medicine for quite some time, the number of notable successes is still incredibly low. In many ways, this was to be expected. The promise of decoding the human genome led to sky-high expectations that all of our questions on the causative factors behind certain diseases would be answered. Unfortunately, all it told us was exactly what we already knew — fully understanding the intricacies of the human genome and the myriad of potential interactions and environmental influences is, more often than not, a debate of nature versus nurture.

Clearly, the concept of personalized medicine needed some reworking; and so the concept of “precision medicine” was established as a more explicit way to describe the shift that was occurring.

Precision medicine takes the main stage

The term precision medicine began to take off shortly after The National Research Council released its pioneering report, “Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease.” In the project, “precision medicine” was established as a proper term of art. The Committee’s objective was to explore the feasibility and overall need for a new classification of human disease that was based on molecular biology. With this new taxonomy, “precision medicine” became more refined and eventually took over the personalized medicine term. Reasoning behind the change was driven primarily by the definition. According to The National Research Council’s report:

‘Precision medicine’ refers to the tailoring of medical treatment to the individual characteristics of each patient. It does not literally mean the creation of drugs or medical devices that are unique to a patient, but rather the ability to classify individuals into subpopulations that differ in their susceptibility to a particular disease, in the biology and/or prognosis of those diseases they may develop, or in their response to a specific treatment. Preventive or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not. Although the term “personalized medicine” is also used to convey this meaning, that term is sometimes misinterpreted as implying that unique treatments can be designed for each individual. For this reason, the Committee thinks that the term “precision medicine” is preferable to “personalized medicine.”

Genomics medicine enters the playing field

In this definition of “precision medicine,” a subset of patients with a common biological basis of disease would most likely benefit from a similar drug or other form of treatment. Similar to personalized medicine, the focus is rooted in the biological aspects of the patient. Analyst companies even began to move away from the personalized medicine term in an effort to be more precise in their definition. Gartner, for example, changed the name of its profile from personalized medicine to genomics medicine due to the biologic component. The company’s definition describes genomic medicine as “a breakthrough model for medical science (and other fields) triggered by the mapping of the human genome. It includes many types, such as functional genomics, proteomics, epigenomics, nutrigenomics and pharmacogenomics.”

Where we are today

The term precision medicine has solidified itself as the critical descriptive concept of medicines’ future, although history tells it is hardly set in stone. In early 2015, the National Institutes of Health (NIH) was asked to extend the term across all disease states as part of the Precision Medicine Initiative. Under this initiative, the research program All of Us now defines precision medicine as “a revolutionary approach for disease prevention and treatment that takes into account individual differences in lifestyle, environment, and biology.” With this adjustment, precision medicine now incorporates the concepts of genomics medicine and personalized medicine with the inclusion of genomic, molecular, cellular, lifestyle, and traditional medical data. With this new definition, precision medicine has evolved beyond the purely biologic and genomic definition to a more comprehensive term that includes all data subsets that work together to make medicine more precise – and that’s the end goal of healthcare after all, isn’t it?

Photo: Getty Images

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