Opinion
DIAGNOSTIC EXCELLENCE
VIEWPOINT
Learning the Art and Science of Diagnosis
Allan S. Detsky, MD, Diagnostic acumen is a foundational clinical attribute of
PhD an excellent physician. Over time, clinicians have been
Institute for Health givenmoretoolstohelpthemdeterminethecauseofpeo-
Policy, Management
ple’s health concerns, increasing both the amount of
and Evaluation, and
Department of available information and the complexity of the activ-
Medicine, University of ity. Learning diagnostic excellence should take account
Toronto, Toronto, of these opportunities and challenges while retaining the
Ontario, Canada; and
Department of
art of medicine.
Medicine, Mount Sinai
Hospital and University Gathering Data
Health Network,
The diagnostic process begins with gathering data. Key
Toronto, Ontario,
Canada. elements involve ascertaining the person’s current con-
cerns; reviewing the medical history; performing a physi-
cal examination; evaluating findings from laboratory,
imaging, and pathology studies; and exploring the infer-
ences and plans of previous clinicians. In the modern era,
much of this data gathering takes place through a review
of the electronic medical record. While that is a valuable
and efficient tool, physicians must continue to learn the
value of listening to a person’s descriptions and ac-
counts of their symptoms and concerns firsthand. In some
cases, the diagnosis is revealed in the first few minutes of
taking the history. For example, a sudden change in symp-
toms, which could only be elicited by talking with the per-
son, may be the key diagnostic clue.
Similarly, physicians need to learn how to look at
people carefully during the clinical encounter.1 While
many technologies like echocardiography or com-
puted tomography have replaced parts of the physical
examination because they can reveal internal struc-
tures and function, there is no substitute for inspecting
a person—a foundational clinical skill that requires de-
liberate attention, a focus on detail, a curious attitude,
and practice.1
Integrating Data to Form Diagnostic Hypotheses
After gathering data, the next step is to determine
which pieces of information (findings) are salient and
which are not. This is an enormous challenge for clini-
cians, as individuals may report their concerns or clini-
cal “stories” in a variety of ways that can potentially
lead a physician to form very different hypotheses.
Identifying the correct “stem” of the story—the key
finding or combination of findings on which to build a
list of possible diagnoses—is crucial and requires experi-
Corresponding ence and practice over time. Differentiating facts from
Author: Allan S. inferences derived from those facts is also important.2
Detsky, MD, PhD, For example, pain in the right lower quadrant of the
Department of
Medicine, Mount Sinai
abdomen, ie, a fact, does not always mean the pathol-
Hospital, 600 ogy is in that location (eg, appendicitis), ie, an infer-
University Ave, Room ence; the pain could represent referred pain from an
429, Toronto, Ontario
epidural abscess.2 Just because a laboratory reports a
M5G 1X5, Canada
(allan.detsky@ normal value (a fact) does not always mean it is normal
sinaihealth.ca). (an inference); laboratory errors may occur, such as
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quality control problems, incorrect labeling of the iden-
tity of the person from whom the specimen was taken,
or collecting the specimen at the incorrect time of day
(eg, an 8 AM cortisol measurement). Drawing incorrect
inferences from facts can anchor a clinician to the
wrong diagnosis, highlighting the importance of learn-
ing how to recognize cognitive errors.2,3
Iterative Bayesian Thinking
The next step involves comparing the list of a person’s
key findings with the profiles of the diseases under con-
sideration. For example, a person with night sweats,
weight loss, and diffuse lymphadenopathy might have
lymphoma, tuberculosis, or lupus (systemic lupus ery-
thematosus). Knowing how often those findings are pre-
sent in individuals with those diseases is helpful. Physi-
cians need to learn that such “disease profiles” represent
the sensitivity of each finding in that disease—the prob-
ability that a person with that disease (eg, lupus) has that
finding (eg, lymphadenopathy).
What clinicians really want to know is the opposite
direction of conditional probability—the chance that
someone with lymphadenopathy has lupus, ie, the posi-
tive predictive value. The Bayes theorem teaches that
the prevalence, or prior probability, and the specificity
of the finding connect these 2 conditional probabilities
(sensitivity and positive predictive value). For diagnos-
ticians, this problem-solving activity is iterative; com-
paring the list of the person’s findings with the disease
profiles will help guide acquisition of new information
and revise the list of potential diagnoses (eg, a negative
antinuclear antibody test result might rule out lupus).
The exercise requires that physicians learn how to ac-
cess information about the accuracy of tests derived
from scientific knowledge, such as sensitivity and speci-
ficity or likelihood ratios.
But there is much more to this process than clinical
knowledge. Physicians must understand the variety of
ways an illness can present to recognize it. For ex-
ample, individuals with pulmonary embolism can pre-
sent with several distinct clusters of findings. Pulmo-
nary infarction will often cause pleuritic chest pain,
hemoptysis, fever, and a wedge-shaped defect on chest
imaging. Showers of emboli could lead to dyspnea, tachy-
cardia, and a feeling of doom. Massive pulmonary em-
boli could result in syncope, chest pain, and signs of right
heart strain on physical examination and electrocardio-
gram. Additionally, study-derived estimates of likeli-
hood ratios for these findings may be based on individu-
als who participate in research studies in settings that
differ greatly from people who seek care in other set-
tings. Appreciating these variations requires seeing many
people over time with follow-up and feedback4 as con-
tinuous learning.
(Reprinted) JAMA Published online April 18, 2022 E1
 Opinion Viewpoint

Choosing the Format of Communication What’s Different Now

A key lesson in the diagnostic process is to appreciate when clini-
cians need synchronous communication (when all involved partici-
pants in the discussion are present at the same time) and when they
should use asynchronous communication (when the participants
hear, read, or access the information at different times).5 One de-
terminant is urgency; for instance, a radiologist who identifies a dis-
secting aortic aneurysm on imaging cannot simply send an email
about the finding to the clinician who ordered the test. A more subtle
requirement for synchronous communication is the extent to which
a clinical decision depends on the nuanced interpretation of an im-
age, pathology specimen, or consultant’s opinion. In those cases, real-
time synchronous exchange of ideas and information is invaluable.
The advantages of synchronous communication can be difficult to
teach. Modern cancer management requires “tumor boards” with
synchronous interdisciplinary meetings to derive clinical plans. Many
other disciplines in medicine lag behind this approach.6
Physicians communicate diagnoses and what they will mean to
the people who seek care; they need to learn how to do so in ways
that are understandable and meaningful.7 Communicating uncer-
tainty is also a crucial skill. Similarly, learning how to deliver bad news
with empathy is an important duty and responsibility for physicians.
Determining the Urgency of Diagnosis
Physicians also need to learn to differentiate circumstances in which
making a diagnosis is urgent from when it is not. To do so, they need
to be able to answer 3 questions. Does the person have a condition
or acute illness that is potentially life-threatening? Does the person
potentially have a problem that can be treated successfully? Must this
problem be treated immediately? Conversely, for a person without
acute illness, there are times when it is best to order tests serially over
time with close follow-up by the same physician. The ability to an-
swer these questions correctly ultimately requires good judgment.
The tradition of teaching physicians how to make diagnoses has
evolved over the last 200 years. Just as using a stethoscope re-
placed physicians having to place their ear on the chest, technol-
ogy has offered many more and better diagnostic tools with higher
sensitivity and specificity. For example, artificial intelligence appli-
cations might augment a physician’s knowledge in directing the
search for and derivation of a correct diagnosis.8 Artificial intelli-
gence (and other related machine learning technologies) has been
successfully applied in reading images like radiographs, skin le-
sions, or retinal scans.
However, attempts involving diagnoses that require integra-
tion of clinical findings have not achieved the same success (such
as IBM Watson Health). Failure to date is likely the result of an
inability to perfect the choice of key data (ie, the “stem” of a per-
son’s story) that provide the inputs for machine-based diagnostic
algorithms. Another recent difference is the reality that much of
the same information physicians access online is available to the
people who seek help, so “self-diagnosis” is more common.9
Conclusions
Diagnostic excellence requires a comprehensive knowledge
of diseases, skills in data gathering, competency in communica-
tion, and judgment in fact integration and problem solving. As
such, diagnosis involves both the art and the science of medi-
cine. At times, diagnosis involves fast thinking via pattern rec-
ognition (for people who have findings that are highly specific
for a certain disease), whereas at other times, it involves slower
thinking with iterative analyses. Putting it all together to achieve
diagnostic excellence requires caring, curiosity, practice, experi-
ence, and feedback,4 all components of lifelong learning that
contribute to the joy and satisfaction derived from the practice
of medicine.

ARTICLE INFORMATION 2. Detsky AS. Snakes on a dock. JAMA. 2016;316(10): 7. Berwick DM. Diagnostic excellence through the
Published Online: April 18, 2022. 1043-1044. doi:10.1001/jama.2016.5179 lens of patient-centeredness. JAMA. 2021;326
doi:10.1001/jama.2022.4650 3. Croskerry P. The rational diagnostician and (21):2127-2128. doi:10.1001/jama.2021.19513

Conflict of Interest Disclosures: None reported.
Additional Contributions: I thank Rapheal Rush
and Kieran Quinn (University of Toronto) for
comments on an earlier manuscript draft. Neither
was compensated.
REFERENCES
1. Gupta S, Saint S, Detsky AS. Hiding in plain
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4. Dhaliwal G, Detsky AS. The evolution of the
master diagnostician. JAMA. 2013;310(6):579-580.
doi:10.1001/jama.2013.7572
5. Horwitz LI, Detsky AS. Physician communication
in the 21st century: to talk or to text? JAMA. 2011;
305(11):1128-1129. doi:10.1001/jama.2011.324
6. Lee TH. Zoom family meeting. N Engl J Med. 2021;
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8. Adler-Milstein J, Chen JH, Dhaliwal G.
Next-generation artificial intelligence for diagnosis:
from predicting diagnostic labels to wayfinding.
JAMA. 2021;326(24):2467-2468. doi:10.1001/jama.
2021.22396
9. Tan SS, Goonawardene N. Internet health
information seeking and the patient-physician
relationship: a systematic review. J Med Internet Res.
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E2 JAMA Published online April 18, 2022 (Reprinted) jama.com

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