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Personalized vs. Precision Medicine

Posted on February 3rd, 2017 by in Pharma R&D

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Last year was a year of impetus for precision medicine. Former President Obama’s budget for the 2016 fiscal year included $215 million for the National Institutes of Health (NIH), the National Cancer Institute (NCI), and the Food and Drug Administration (FDA) to fund the Precision Medicine Initiative, a major research effort announced in 2015 that sought to bring precision medicine to many aspects of healthcare.[1]

The tremendous advances in genomics and other “omic” approaches and technologies, together with the ability to generate and analyze big data, have opened the doors during the last decade to the concept of personalized or precision medicine, in which individual genetic, phenotypic and environmental sources of variability are taken into account for disease diagnosis, treatment, or prevention. Along with a growing interest in this approach, the use of the terms personalized, individualized, precision or even P4 (predictive, preventive, personalized and participatory) medicine in the health care field has increased dramatically.

Of these, personalized medicine and precision medicine have been by far the most common terms, with a recent shift towards the latter, likely triggered by the announcement of the U.S. Precision Medicine Initiative. Professor Muin Khoury, director of the CDC Office of Public Health Genomics, notes in his April 2016 Impact Blog[2] the following PubMed query results: while in 2005 only one paper mentioned precision medicine (compared to 74 papers that mentioned personalized medicine), 1,529 papers mentioned precision medicine in 2015 — almost as many as those mentioning personalized medicine (1737 papers).

Genetics Home Reference (GHR), the U.S. National Library of Medicine website for consumer information related to genetic conditions, has just issued a new primer on precision medicine to help disseminate this evolving concept.[3] According to the NIH, precision medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” The new GHR primer stresses that, although the term precision medicine is relatively new, the concept has existed in different areas of medical practice for a long time. For example, in blood transfusions and organ transplants, donors are not assigned at random, but carefully matched to the recipients based on their genetic and antigen type, to avert complications.

Much overlap exists between the terms precision medicine and personalized medicine. According to the National Research Council (NRC), personalized medicine is an older term with a meaning similar to precision medicine. However, the Council grew concerned that the word personalized could be misinterpreted to imply that treatments and preventions are invariably developed uniquely for each individual, which is not necessarily the case. For this reason, the Council preferred the term precision medicine to personalized medicine, issuing a report in 2011 with a detailed overview of the topic and their rationale for its preference in terminology.[4] The GHR new primer issued additional key resources to obtain authoritative information about precision medicine.

The 2015 U.S. Precision Medicine Initiative includes both short- and long-term goals. The short-term goals focus on cancer research, with the hope of finding new, more effective treatments for various kinds of cancer based on increased knowledge of the genetics and biology of the disease. Cancer medicine is an area where the first examples of truly individualized approaches to diagnosis and therapy, which have a critical impact, are already being used.

Fully individualized medicine can also meet a critical need in complex diseases — such as asthma, arthritis or psoriasis — subject to a high degree of genetic, phenotypic and environmental variability. However, for the most part, individualizing therapy may not be practical due to cost and complexity, and instead all the data generated by a precision medicine approach would be used to replace or complement the current diagnostic criteria, and to identify patient subgroups with similar genetic, phenotypic and lifestyle parameters contributing to the disease.[5]

This is where the long-term goals of the Precision Medicine Initiative are aiming, by focusing on bringing the approach to all areas of health and health care on a large scale. With that purpose, the NIH will launch a study with a group of at least one million volunteers from around the U.S. who will provide biological samples and other information about their health. Researchers will use the data obtained to study a large range of diseases in order to predict disease risk and understand disease progression better and to find improved diagnosis and treatment strategies.

In contrast to the prevalent “one-size-fits-all” approach — in which disease treatment and prevention strategies are developed for the average person, with less consideration for the differences between individuals — researchers and doctors are hoping that a precision medicine approach will allow a more accurate prediction of which treatment and prevention strategies for a particular disease will work in which subgroups of patients.

A truly individual, personalized medicine approach may still be required for those patients who cannot be categorized by mainstream precision medicine or who suffer diseases without effective drug therapies. This may happen more often than most people expect because the current precision medicine vision appears to focus on disease classification using traditional phenotypic and genetic approaches that are more relevant for disease prevention and diagnosis rather than treatment. They still often ignore the need to align patient disease mechanism and disease classification in general with the mechanism of action of drugs currently available on the market or undergoing clinical trials.

Part of the problem is merely semantic.  From scientific and social points of view preventive and personalized medicine represent different paradigms.  They are different by the choice of drugs, degree of patient suffering and lucidity of the outcome.  Personalized medicine is focused on providing a cure to a patient, while preventive medicine is concerned with public health and eradication of disease in society. Intermingling both of these concepts under one term “precision medicine” will cause semantic polysemy and therefore confusion in future discussions and grant applications.

While there is no doubt that the Precision Medicine Initiative should yield improvements in disease classification, diagnosis and prevention, it may disappoint medical professionals and patients expecting major improvements in clinical outcomes from targeted therapies in the 21st century, if it remains limited to current approaches.  It may also disappoint a pharmaceutical industry that seeks bigger markets for their new drugs.  All modern drugs are developed for precise molecular targets and therefore are assumed for uses against clearly defined disease molecular mechanisms.  Therefore the disease mechanism in an individual patient must be diagnosed first, before selecting a therapy,  regardless of whether we call this approach personalized or precision medicine.

[1] www.whitehouse.gov/the-press-office/2015/01/30/fact-sheet-president-obama-s-precision-medicine-initiative.

[2] “The Shift from Personalized Medicine to Precision Medicine and Precision Public Health: Words Matter!” Posted on April 21, 2016 by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention: blogs.cdc.gov/genomics/2016/04/21/shift/.

[3] “Precision Medicine” Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine National Institutes of Health Department of Health & Human Services, Published December 1, 2016 – downloadable from ghr.nlm.nih.gov/primer/precisionmedicine/definition.

[4] “Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease” – National Research Council – 2011 National Academies Press: plengegen.com/wp-content/uploads/4_Toward-Precision-Medicine.pdf.

[5] www.elsevier.com/connect/what-is-precision-medicine-and-can-it-work

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All opinions shared in this post are the author’s own.

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