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Genetically Informed Medicine

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As many readers will remember from an earlier editorial entitled “What’s in a Word? Using Words Carefully,”1 I pointed out the danger in using words without first carefully considering the implications of the written or spoken terms for individuals and for society. In this editorial, I described one of my patients who had mistakenly been labeled as a chronic schizophrenic. Clearly, such a diagnosis could have had major consequences for this individual’s life and career. It turned out that this patient had never had any psychiatric illness or diagnosis. The incorrect label occurred following an emergency department visit during which the patient complained of hallucinations. Subsequent evaluation demonstrated that the hallucinations were the result of an untoward reaction from a sleeping pill. Unfortunately, the resident who wrote up this emergency department visit listed schizophrenia in the admission differential diagnostic list. That diagnosis somehow made its way into the patient’s permanent medical record.

Because of my great respect for words, I am uncomfortable with 2 terms that are being used quite commonly today, that is, “precision medicine” and “personalized medicine.” Let me explain why I am uncomfortable with these terms and suggest alternatives that seem more accurate and therefore more appropriate. In my opinion, the term “precision medicine” promises too much. The practice of medicine will never be as precise as nuclear physics or aerospace engineering. There will always be vagaries surrounding symptoms, diagnostic tests, and responses to therapy. There is no question that both diagnosis and therapy are becoming more precise; however, when we use a term such as “precision medicine,” we encourage the lay public to believe that we are a great deal more clever and more precise than we are in reality. I would love to see us be as accurate in diagnosis and therapy as McCoy in Star Trek, whose handheld device always yields the correct diagnosis. Perhaps in the distant future, we, too, will be this accurate, but my more than 40 years of experience in clinical medicine make me doubt that we will ever attain this degree of certainty.

On the other hand, there is no doubt that with our current rate of advance in understanding the human genome, we will become progressively more adept at making correct diagnoses and delivering informed advice and therapy. The medicine of the future will certainly involve a considerable dose of genomic direction. Therefore, I would like to propose that we use the term “genome or genomically informed medicine” or “genetically informed medicine” rather than precision medicine, because of the latter’s overly optimistic promise. If these new terms are believed to be too technical for many individuals, then the simplified version, “informed medicine,” could be used. Alternatively, one might use the descriptive term, “advanced medicine.”

I am also uncomfortable with the term “personalized medicine” because it implies that physicians are currently, or in the past were, guilty of delivering “impersonalized medicine.” I do not believe that this is the case, and feedback from patients over the years confirms my strongly held belief that most physicians already practice medicine with a personal touch. Therefore, instead of “personalized medicine,” I would prefer the term “caring medicine,” reflecting Francis W. Peabody’s famous statement “… For the secret of the care of the patient is in caring for the patient.” By using the latter term, we tell our patients that we do care about them and that we want to give them the very best personal medical care. Perhaps I am overly concerned about misunderstood implications of the terms “precision medicine” and “personalized medicine,” but I worry about how these terms will be interpreted by individuals outside of the health care system.

As always, I look forward to hearing from our readership about my ideas and comments.

To read this article in its entirety please visit our website.

-Joseph S. Alpert, MD (Editor-in-Chief, The American Journal of Medicine)
Professor of Medicine, University of Arizona College of Medicine, Tucson

This article originally appeared in the October 2016 issue of The American Journal of Medicine.

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