Perspectives in Primary Care: Knowing the Patient as a Person in the Precision Medicine Era

Patient-physician relationships have indeed changed; And so they should in parallel with the evolving sociopolitical, economic and scientific milieus within which patient-physician relationships inevitably embed. Ziegelstein's latest piece sheds light on the growing technological forte of clinical practice in the wake of precision medicine and the ways in which it is redefining the patient-physician relationship. Importantly, he underscores the multidimensionality of the genuine "know me" approach physicians must cultivate with their patients in primary care, especially, and contextualizing social determinants of health.

Ziegelstein's main contention is that clinical and research communities should lend the science of "personomics"-- the systematic exploration of patient values and goals, health beliefs, and personal preferences--the same evidentiary legitimacy as the 'omics' disciplines that precision medicine occasions.

While I agree, I also share the view that "today's complex healthcare environment, (including mounting pressure to document at the point of care, in the exam room), may be fundamentally restructuring the basis on which care is conceived and delivered" [2]. Physicians' growing reliance on technical over intuitional instruments of 'precision' in routine patient care is not, however, necessarily to the detriment of humanism that Ziegelstein seems to imply. The technical instruments that power precision medicine offer significant, and sometimes the only clinical benefits for some patients in their diagnostic or treatment odysseys. Patients with undiagnosed conditions [3-9], those with above-population oncological risks [10-13], and children with rare genetic disease (see for example [14-16]) justify this claim. They are proof of how medical technae, including but limited to increased screen time during the patient encounter, is critical to helping solve what medical intuition may have left unanswered. For the aforementioned patients, these technical instruments so deeply incorporate the "me" in the diagnosis and treatment that any other approach would be clinically irresponsible at best.

Such patients furthermore highlight how precision medicine per se is not responsible for exacerbating strained patient-physician relationships. Nor are the instruments that enable 'precision' to blame for the perception that physicians are more technological dependent than before. Rather, Ziegelstein's critique is better placed on why the science of medicine a continually eclipses the art of medicine, disproportionately privileging quantitative over qualitative ways of knowing the human condition. Ziegelstein too commits this fault (at least rhetorically) insofar as he contends that understanding an "individual's psychological, social, cultural, behavioral and economic situation and how it impacts the person's experience of health and illness" is a technique that must be "effective, efficient, valid, and reliable".

But what I suspect underlies Ziegelstein's message, and my keen interest in the ethics of precision medicine, is a genuine uncertainty about whether precision medicine is a tool? a philosophy? a movement? The United States Precision Medicine Initiative defines precision medicine as an approach, specifically, an "emerging approach for disease prevention and treatment that takes into account people's individual variations in genes, environment, and lifestyle" [17]. Based in large part on analyzing genetic variation, precision medicine encompasses a suite of clinical tools to prevent, treat and diagnose. Precisely. Accepting that patients are inherently multifaceted beings, whose complex social networks, environments and (ir)rational choices we can deconstruct to determine how they together influence health is, however, strikingly postmodern. Finally, one need only chronicle--as Pope does [18]--the historical turn towards computation when evidence-based medicine (EMB) first entered the clinical lexicon to understand some of the value conflicts that Ziegelstein attributes to precision medicine [19]. It is my view that precision medicine is a second-wave movement of sorts, EBM's successor and more (statistically) powerful given the new universe of evidence made possible by the Human Genome Project.

Whether tool, philosophy, movement, or combination of the three, precision medicine is making important inroads into understanding our diseases. Understanding ourselves behind the genome requires that patient- physician relationships will need to accommodate one more: the technology.

References 1. Ziegelstein RC. Perspectives in Primary Care: Knowing the Patient as a Person in the Precision Medicine Era. Ann. Fam. Med. 2018;16:4-5.

2. Frankel RM. When It Comes to the Physician-Patient-Computer Relationship, the "Eyes" Have It. In: Papadakos P, Bertman S, editors. Distracted Dr. 2017. p. 87-99.

3. Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: Results from 500 unselected families with undiagnosed genetic conditions. Genet. Med. 2015;17:578-86.

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13. Genovese G, K?hler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, et al. Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence. N. Engl. J. Med. 2014;371:2477-87.

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16. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet. 2017;100:695-705.

17. Precision Medicine Initiative (PMI) Working Group. The precision medicine initiative cohort program - building a research foundation for 21st century medicine. Precis. Med. Initiat. Work. Gr. Rep. to Advis. Comm. to Dir. NIH. 2015.

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Competing interests: None declared

I agree completely with, and greatly appreciate, Dr. Korf's comments.

Regarding the imprecise concepts of "health" and "disease", the Genes to Society (GTS) curriculum at the Johns Hopkins University School of Medicine, where I am Vice Dean for Education, recognizes this very point. As noted in the original report on this curriculum (Wiener, et al. Acad Med 2010; 85:498-506), "The GTS course... will eliminate the often artificial dichotomy between normal and abnormal biologic function, emphasizing instead the spectrum of function, whose manifestations range from illness to well-being."

Competing interests: None declared