Precision Medicine promises to get the right patient, the right test, the right diagnosis, the right treatment, and in the right amount. Is this hope or hype?
Precision medicine (PM) is much talked about in the media and academia, but there is uncertainty about its precise meaning . There is hope that PM will mitigate overdiagnosis , and time will tell if the hope will be realized. However, it is not too early to speculate the challenges faced in getting precise substrates. Fundamentally, new substrates must break the duality of underdiagnosis–overdiagnosis, a tradeoff akin to that between sensitivity and specificity.
What is PM?
PM is prevention and treatment which respects individual variability and leads neither to undertreatment nor to overtreatment. Medicine has gotten more precise. An illustrative historical example is blood typing, which made transfusions safer by identifying and sorting blood on the basis of surface proteins.
Ultimately, PM is an effort to better understand the local context, the individual, who vary because of molecular, cellular, physiological, behavioral, and environmental factors, which must be understood to allow the unique profiling of disease pathophysiology and response to treatment.
PM fills a void created by imprecise medicine. The size of the void depends on how precise we wish to be; the finer our desired precision, the larger the void. The nature of the void depends on the clinical context and, broadly speaking, the symptomatic patient versus the asymptomatic. Precision in treatment of advanced renal cell cancer has different challenges than achieving precise and relevant diagnosis in a patient screened for breast cancer.
Our current measurement tools, such as imaging, are unable to satisfactorily distinguish between true disease and overdiagnosis . Because of this indistinction, the survival benefits of screening , for example, may be exaggerated at an individual level.
The shackles of Gauss
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The PM initiative
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PM and overdiagnosis
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Conclusions
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References
1. Rubin R.: Precision medicine: the future or simply politics?. Jama 2015; 313: pp. 1089-1091.
2. Van den Bruel A.: The triumph of medicine: how overdiagnosis is turning healthy people into patients. Family practice 2015; 32: pp. 127-128.
3. Collins F.S., Varmus H.: A new initiative on precision medicine. The New England journal of medicine 2015; 372: pp. 793-795.
4. Jha S.: Overdiagnosis versus overtreatment: a false dichotomy. Radiology 2014; 270: pp. 628.
5. Jenks S.: Downgrading cancer definitions: overdiagnosis fuels the discussion. Journal of the National Cancer Institute 2014; 106: pp. dju070.
6. Schwaederle M., Daniels G.A., Piccioni D.E., et. al.: On the road to precision cancer medicine: analysis of genomic biomarker actionability in 439 patients. Molecular cancer therapeutics 2015;
7. Gardeux V., Achour I., Li J., et. al.: ‘N-of-1-pathways’ unveils personal deregulated mechanisms from a single pair of RNA-Seq samples: towards precision medicine. Journal of the American Medical Informatics Association : JAMIA 2014; 21: pp. 1015-1025.
8. Tempero M.: Putting precision medicine on the national agenda. Journal of the National Comprehensive Cancer Network : JNCCN 2015; 13: pp. 251.