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Precisely Speaking – Part 1

scientists in a clinical laboratory analyzing a DNA sequence

Attending AACC 2018? Connect with Todd Winey or meet with InterSystems.

Laboratory 2.0: From Personalized to Precision Medicine

The concept of Precision Medicine is evolving in ways that are having important ramifications for Clinical Laboratories and their evolution to value based services.

Coupled with the recent approvals by the FDA of Whole Slide Imaging for primary diagnosis and you have an incredible convergence of factors driving Precision Medicine from the laboratory.

“The crude oil of all of medicine is related to laboratory data generated on patients and their care episodes,” says Michael Becich, MD, PhD, chairman and distinguished university professor, Department of Biomedical Informatics, University of Pittsburgh School of Medicine. “The digital framework has always been clinical tests, the numbers. Genomics is mainstream and now digital imaging, too. Those three things, together with the clinical brainpower of a pathologist and an engine to look deeply at data and find trends, will create a mammoth force for precision medicine.”[i]

But to comprehend this important but subtle shift, we need to look at the evolution of the use of the terms Personalized, Precision and Genomics medicine to truly understand its definition today.

First came Personalized Medicine, a trend that was to reshape medicine by customizing healthcare decisions and practices based on a patient’s genetic information.

The industry has been discussing personalized medicine for quite a while, and the number of notable successes is quite low.  In many ways, this was to be expected.  Our excitement in decoding the human genome led us to believe we’d have all the answers once we just understood the genome.  Unfortunately, what we learned was what we already knew.  Understanding the intricacies of the genome and the myriad of potential interactions and environmental influences has placed us back into a 150-year-old debate on the impact of nature vs nurture.

And so, Personalized Medicine needed a makeover to eliminate some baggage and give the concept a fresh start.  Enter the use of “Precision Medicine” as a more explicit way to describe the shift taking place.

Use of the term Precision Medicine began gaining real traction after The National Research Council released a seminal report Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease in November of 2011, which established “Precision Medicine” as the proper term of art.  The Committee’s charge was to explore the feasibility and need for “a New Taxonomy of human disease based on molecular biology” and, as an adjunct to that work, refined the use of “Precision Medicine” over the then currently used “Personalized Medicine.”

Here was the reasoning behind the change:

“As used in this 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.”

Very simply, “Precision Medicine” assumes the advances in medicine allow for more precise diagnosis and treatment of patients at the molecular level.  In this definition of “Precision Medicine,” the ultimate end point is the selection of a subset of patients with a common biological basis of disease, who are most likely to benefit from a drug or other treatment, such as a particular surgical procedure.  Like “Personalized Medicine,” the focus is very much on the biological aspects of the patient.

Even analyst companies began taking note of the change and became more precise in their definitions, moving away from Personalized Medicine as an effectively descriptive term. Gartner changed the name of its profile from Personalized Medicine to Genomics Medicine as the preferred term for this field. With the obvious emphasis on the biological aspect of the profile, Gartner’s definition describes Genomics 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.”

Now that Personalized Medicine is on the outs, and Precision Medicine is where it’s at, Precision Medicine has become the new buzzword, with every healthcare technology vendor using Precision Medicine on their websites and in their marketing materials.

But a funny thing happened on the buzzword journey of “Precision Medicine;” the definition shifted yet again, in subtle and positive ways.

In January 2015, as part of the Precision Medicine Initiative, the NIH was tasked to build a national, large-scale research enterprise with one million or more volunteers to extend “Precision Medicine” to all diseases.  The research program (All of Us) is a key element of the Precision Medicine Initiative, which defines Precision Medicine as “a revolutionary approach for disease prevention and treatment that takes into account individual differences in lifestyle, environment, and biology.”

People may still use Precision Medicine interchangeably with Personalized Medicine and Genomics Medicine, but the recent shifts have established Precision Medicine as a more encompassing term of art.  Precision Medicine incorporates both the Genomics Medicine and Personalized Medicine concepts and more, as it seeks to bridge genomic, molecular, cellular, lifestyle and traditional medical data.  The new understanding of Precision Medicine is that it moves beyond the purely biologic and genomic expectations to examine all data that can make medicine more precise.

That’s a big deal and an important step in our understanding of how we actually deliver Precision Medicine.  In my next post, I’ll talk about what this shift means for laboratory informatics and the needs of the laboratorian in the age of Precision Medicine.
Attending AACC 2018? Connect with Todd Winey or meet with InterSystems.

[1] “Whole Slide Imaging for Primary Diagnosis: ‘Now It Is Happening’.” CAP TODAY. N.p., 18 May 2017. Web. 28 June 2017.