David M. Warmflash, MD

Gerry Gajadharsingh writes:

“The answer to this question is, I really hope not! Taking a patients’ history (their story) is an art form and can inform an experienced clinician about numerous things, from what the patient says (and sometimes what they don’t say), allowing the patient to tell their story and therefore feel listened to (an important part of any therapeutic process), coupled with sensitive responses and further questions from the clinician can often help the patient to better understand what is wrong with them. This leads on to an appropriate clinical examination which then informs whether any additional testing such as imaging or lab testing (and their expert interpretation) can help arrive at a more accurate diagnosis. It’s good to know that previous research has baked this up.

 There has been a significant advance in modern diagnostic tests over the past 32 years since I qualified, but so often the interpretation of these tests needs a context and the history and clinical examination often provides this context.

 I see many patients, having been “diagnosed” by imaging arranged by other clinicians, which bears little correlation to the history or physical examination of the patient, not surprisingly the treatment that they have been previously offered for the “diagnosis” has not worked. And this is all assuming that patient has presented with actual pathology (a defined disease process), which of course many of them do not, as many of them have functional problems causing their symptoms.

 However, the use of advancing medical technology can be immensely helpful in discovering defined pathology. The article below suggest that we are on the brink of the era of multiomics, a term encompassing the numerous data available for patients, from genomics, epigenomics, proteomics, microbiomics, metabolomics, and an array of other omics.”

As far back as the 1970s, doctors have pondered whether one day, as medical technology barrels ahead, the patient history and physical examination (H&P) would eventually become obsolete.

And yet, we were all told in medical school that a proper history is enough to make X percent of diagnoses, which increases further when you work in physical findings. But today we are on the brink of the era of multiomics, a term encompassing the numerous data available for patients, from genomics, epigenomics, proteomics, microbiomics, metabolomics, and an array of other omics.

These days, a health dataset from a single patient can be immense, to be sure. Advances in artificial intelligence and machine learning, however, are making it possible to organize and filter multiomic data from a patient in ways that make them useful to physicians—ways that can personalize diagnosis and care, and bypass the often imperfect recollections of patients and patients’ families obtained during a history.

“We are entering an age when medicine can become truly personalized, as we learn to interpret multiomics data and integrate them with data from other sources, such as sensors, scanners, wearables, and other devices,” notes Shane McKee, MD, consultant in genetic and genomic medicine at Northern Ireland Regional Genetics Centre, Belfast City Hospital.

Arguably, today many entrepreneurs aren’t merely asking whether new tcchnology can replace the H&P but whether it can do even better. “The patient is telling us what they can via patient history, physical examination, and family history, but emerging tests are letting us in on unrecognized disease states, inherited risk, and physical circumstances,” says Howard McLeod, MD, medical director of the DeBartolo Family Personalized Medicine Institute at the Moffitt Cancer Center in Tampa, Florida. “This goes beyond what a patient ‘knows’ and leads us toward a level of forecasting that has previously been impossible.”

The relevance of obtaining a history or performing a physical has been questioned in the past, particularly with the emergence of clinical genomics and increasingly automated laboratory testing.

In 1975, the British Medical Journal published a paper by Hampton and colleagues exploring the relative contribution of the H&P compared with laboratory testing in the diagnosis of outpatients. Of 80 outpatients assessed, 66 (approximately 83%) could be diagnosed on the basis of only a referral letter and a medical history. A physical examination proved useful in seven of the remaining patients, making the combined H&P adequate for diagnosis of 91% of patients in the study. This was only one study, of course, but it was a watershed that has since been cited more than 700 times in the literature. The findings perhaps played a role in medical education’s emphasis on the H&P.

A 2008 study published in the British Journal of General Practice asked essentially the same question specifically in migraine and supported the earlier findings. The authors found that when a primary care physician conducts a history revealing a new-onset unilateral headache with nausea, there is an 80% chance that the diagnosis is migraine. They felt that their data countered the idea that expanded use of MRI is useful in headache screening.

A new inquiry into the utility of multiomics in diagnosis, published this past May in Nature Medicine, assessed the diagnosis of type 2 mellitus. The researchers developed models for predicting insulin resistance using a combination of clinical measures along with patient data gleaned from a parade of “omes”: The genome, immunome, transcriptome, proteome, metabolome, and microbiome were all assessed in the study.

The authors concluded that these omics measurements could replace traditional tests, which the paper deems burdensome.

Given the different possible manifestations of the condition, however, one of the authors of the paper, Michael Snyder, PhD, of Stanford University, was asked about the differential utility of multiomics. “Multiomics and big data will be powerful for diagnosing and subtyping complex diseases,” says Snyder, who is Stanford W. Ascherman professor and chair of the Department of Genetics, and director of the Center for Genomics and Personalized Medicine. “For example, diabetes is a highly heterogenous disease, and making many measurements will likely distinguish its different subtypes.”

Geneticist Angus John Clarke, a professor at Cardiff University in Wales, has argued that environmental and epigenomic factors render genomic data of minimal use without also considering family history data. Yet with multiomics now accounting for epigenomic and environmental factors, these concerns eventually may be overcome.

Adding another perspective, McKee, the Belfast genomics consultant, suggests that the new technology has set the stage for medicine to finally back away from a reliance on large devices and suites of laboratory equipment. “Paradoxically, as medicine becomes more data oriented and technology driven—by orders of magnitude—its intrusion into our everyday lives as patients will become less, and we’ll hardly even recognize it as medicine,” suggests McKee. “That sounds like a very attractive goal.”

Plenty of clinicians still believe in the value of simply talking to their patients, however, even if not for the explicit purpose of obtaining data relevant to a diagnosis.

PhenoMx, a biotechnology company based in New York City, is commercializing what it calls a personalized digital physical examination. The idea is to make MRI more accessible to the public and use full-body scanning as a preventive tool, as opposed to its typical use in diagnosis. Despite the company’s mission, COO Mark Luhovy, MD, isn’t suggesting that physicians abandon the tried-and-true patient encounter.

“Integrated multiomics, next-generation imaging, and wearables’ data will reduce physician diagnostic speculation and enhance prognostic modeling capabilities,” he says. “But the patient story must remain preserved to ensure an authentic connection. Not all of the information exchanged during a physician-patient interaction is quantifiable.”

Stanford Medical School’s Stanford Medicine 25 program is one of the leading programs intent on fostering bedside medicine. Through various in-person and online courses, it trains young physician on the importance of observing and connecting with their patients, which typically includes a thorough physical exam and patient history.

In a recent video published on Medscape, program director Dr Abraham Verghese commented, “…the more things that we can do at the bedside and interpret for the patient, the better. The key element is that we should still be there; it would be a mistake to do those things and disappear ourselves.”