Precision medicine (PM) describes prevention, diagnosis, and treatment strategies that take individual variability into account.1 While PM aims to incorporate individual variability in genes, environment, and lifestyle, the emphasis in current practice is on personalized genetic profiling for diagnosis and risk assessment.
As genetic testing and interpretation advance, PM stands to move medicine away from the population-based knowledge that grounds evidence-based medicine (EBM) to the treatment of patients “based on a deep understanding of health and disease attributes unique to each individual.”2(p1842) Such understanding requires a different and broader concept of medical knowledge, the development of new methods for generating such knowledge, and approaches for incorporation into clinical practice. As PM advances, for some decisions it will replace the population-based “best evidence” of EBM with specific and detailed understanding of what makes an individual patient different from others. To practice PM, clinicians should reconsider current notions regarding the relative value of evidence, as case-based reasoning and understanding of mechanisms will figure more prominently.
Tonelli MR, Shirts BH. Knowledge for Precision Medicine: Mechanistic Reasoning and Methodological Pluralism. JAMA. 2017;318(17):1649–1650. doi:10.1001/jama.2017.11914
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