Improving Diagnostic Safety and Quality

Jawad Al-Khafaji, MD, MHSA, Merton Lee, PhD, PharmD, Sarah Mossburg, RN, PhD | April 26, 2023

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Introduction

During an annual editorial review of featured articles in the Agency for Healthcare Research and Quality
(AHRQ) Patient Safety Network (PSNet) collection, diagnostic safety was noted as a frequent topic for
2022. In consultation with the PSNet Technical Expert Panel, this topic was selected for a Year in Review
perspective. This perspective includes the contribution of Dr. Jawad Al-Khafaji, who is a clinical assistant
professor at the University of Michigan and a subject matter expert in diagnostic safety. Perspective
authors reviewed articles related to clinical misdiagnosis and patient safety added to the AHRQ PSNet
Collection in 2022. Key findings and themes are highlighted below.

Across clinical settings and medical specialties, the diagnostic process requires a complex set of activities
to gather, integrate, and interpret information, and as a result, could lead to a missed, delayed or
incorrect diagnosis. Correct diagnosis may depend on a disparate range of clinical skills: communicative
aptitude in obtaining patient histories, observational skill in physical examination, and data
interpretation in diagnostic testing, among others.1 Diagnostic error, as defined in the National Academy
of Sciences Engineering and Medicine’s (NASEM’s) seminal report on improving diagnostic safety, is “the
failure to (a) establish an accurate and timely explanation of the patient’s health problem(s) or (b)
communicate that explanation to the patient.”2 While the NASEM definition describes diagnostic error,
it does not address multifactorial causes of diagnostic error, which include individual patient and
clinician, organizational, and system factors. Recognition of the multifactorial contributors to diagnostic
safety spans back almost 20 years with Dr. Mark L. Graber’s pioneering work on diagnostic error in 2005,
which includes an identification of systemic problems with policy, procedures, and inefficient
processes.3 The incidence of diagnostic error is not well established. Expert opinion suggests that
misdiagnosis may occur in 10–15% of all diagnoses, but literature reviews show varying rates depending
on disease and symptom presentation, from 2.2% for myocardial infarction to 62.1% for spinal
abscess.4 In the Neonatal Intensive Care Unit, a critical care setting in which error may lead more
frequently to mortality, misdiagnosis has been estimated at 6.2% within the first seven days of
admission. More broadly, in pediatric hospitals misdiagnosis rates vary but there is significant
heterogeneity in data gathering as well as variation depending on hospital settings. Recently,
researchers and clinicians have debated methods for calculating error rates. A comparative effectiveness
review by one of AHRQ’s Evidence-Based Practice Centers on diagnostic errors in emergency
departments has prompted a discussion as to the accuracy of diagnostic error and harms rates
generated from the limited data available.5

Factors Contributing to Diagnostic Errors

Research in diagnostic safety in 2022 showed that diagnostic errors include individual, organizational,
and system-wide factors and that the synergy of these factors was associated with diagnostic error.
Other research highlighted the variability in the extent to which these factors, or the interaction of these
factors, play a role in diagnostic error. For example, research in pediatric settings has indicated that the
contribution of individual clinician factors to diagnostic errors ranges from 20% to 60%. The wide
variation in these estimates results from a lack of standardized data on diagnostic error which is mostly
from neonatal or pediatric intensive-care settings. However, these numbers are broadly consistent with
adult misdiagnosis rates. It is important to note that factors contributing to misdiagnosis are often
broadly or inadequately defined and are largely classified based on clinician surveys or experts’
definitions. Studies may refer to cognitive, individual, system, or organizational factors that contribute
to misdiagnosis, but often without consistency in these factors from study to study. Furthermore, the
causal chain for misdiagnosis may span multiple factors. For example, an individual-level factor such as
being rushed or taking shortcuts in making a diagnosis can cascade from being in a distracted
environment, high time-pressure, or being understaffed. Given the complexity of the diagnostic process,
it is unsurprising that contributors to diagnostic error are multifaceted beyond individuals to include
organization- and system-level factors which are challenging to define and isolate.

Beyond challenges in identifying the causes of errors, challenges also exist with the type of data
available to understand factors contributing to and harms from diagnostic errors. A study
on misdiagnosis in pediatric settings emphasize that additional data are needed to further identify
underlying causes of diagnostic error and offer examples of how clinical settings and patient populations
can impact diagnosis. Authors of the study note that current data on misdiagnosis over relies on autopsy
studies, which tend to overestimate the rates of harm from misdiagnosis for both adults and children.
Although factors affecting pediatric and adult diagnostic errors may differ due to differences in
frequency and types of diseases and the addition of parents/caregivers, among both children and adults
researchers are limited by the data available to identify underlying causes.

Individual-Level Factors

Acknowledging the contribution of system-level failures, diagnostic error resulting from human error
continues to be studied. In one study, researchers analyzed serious adverse event reports identified
using the Safer Dx tool and found that more than half of errors occurred during patient assessment.
Researchers noted that specific training and education to bridge knowledge gaps may reduce mistakes
or knowledge-based errors but do not address the whole picture or acknowledge that these errors may
arise from work- or time-related pressures. Additional data collection in serious adverse event reports is
needed to drive initiatives that will prevent misdiagnosis, including identifying strategies to improve
clinical decision making in diagnosis.

While a full discussion of clinical decision making is beyond the scope of this essay, it is a factor in
diagnostic error. Therefore, we touch on a few issues addressed about this topic in the research this
year. Clinical decision making is a complex process that includes a variety of factors. Clinicians confront a
fair amount of uncertainty. In making a diagnosis and choosing a treatment plan, clinicians may need to
balance individual versus population risks and benefits as exemplified by research about misdiagnosis of
infection. In this study, researchers suggested that the higher rates of misdiagnosis may reflect clinician
bias toward treatment, when faced with diagnostic uncertainty, because risks to the population from
not treating (i.e., the risk of antimicrobial resistance) outweighed the risk of treating the individual
unnecessarily in these situations (i.e., prescribing antibiotics when they are not needed). Reducing
misdiagnosis in these situations may have broader, population-level effects on patient safety.
Biases in the Diagnostic Process

Unconscious thinking in clinical decision making may contribute to misdiagnosis in the form of cognitive
biases. The 2015 NASEM report that established the definition of diagnostic error connected clinical
decision making to dual process theory, which is a concept from psychological literature that describes
two types of decision making, one that is nonanalytical, intuitive, and quick-thinking (type 1 thinking);
and one that is analytical and deliberative (type 2 thinking).1 Cognitive biases and heuristics (mental
shortcuts that aid decision making) are examples of type 1 decision making during diagnosis. A recent
study examined heuristics related to type 1 processing in a primary care setting, noting that symptom
presentation is often poorly defined in primary care, leaving patients more vulnerable to misdiagnosis.
Use of heuristics was common. In particular, physicians seemed to frequently rely on (1) anchoring bias,
in which a doctor is biased toward their first impression, and (2) availability bias, in which the likelihood
of a diagnosis is erroneously linked to how easy it is to think of examples. Although researchers found
that unconscious thinking often played a role in diagnosis, it was not always related to misdiagnosis.
About 10% of cases of misdiagnosis examined did not have a correlation with heuristics. Further, telling
clinicians to slow down, ostensibly to switch from type 1 to type 2 thinking, may not effectively reduce
error. The extent to which cognitive shortcuts and unconscious thinking impact medical decisions has
not been definitively described, and the literature is mixed on how often unconscious thinking results in
misdiagnosis.

This uncertainty is further complicated by the use of hypothetical vignettes in literature, so that
published research on the extent of misdiagnosis may not reflect real-world conditions. 6 The conditions
under which diagnoses are rendered do play a role in misdiagnosis, as does clinical decision making. As
these underlying causes are elucidated, interventions are being developed and proposed to improve the
diagnostic process.

Communication as a Factor in Misdiagnosis

Clinician-centered misdiagnosis is only a part of overall diagnostic safety; the NASEM definition also
includes failure to communicate an explanation of the patient’s health problem to the patient as a
diagnostic error. Although clinicians and researchers endorse the importance of patient-centeredness in
assessing misdiagnosis, the extent to which failure to accurately communicate diagnosis constitutes
diagnostic error is controversial. In patient-centered work to categorize diagnostic error, patients
emphasized that communication breakdowns may play a large role in misdiagnosis, impacting reporting
of symptoms. Interpersonal communication skills may therefore be an individual level factor that can
mitigate or contribute to misdiagnosis, apart from clinician knowledge or decision making.

System-Level Factors

Diagnostic safety is complex and sensitive to context. To manage this complexity, research has tended to
focus on single types of contributing factors, such as problems resulting from cognitive errors made by
clinicians. But as research in diagnostic safety has acknowledged this complexity, more studies have
added analyses that describe the role of multiple noncognitive factors and systems issues. One
such study recently proposed a conceptual model connecting work conditions, such as time pressure
and volume-based patient loads, to clinician stress and misdiagnosis, drawing together findings from
studies on educational theory, clinician burnout, as well as diagnostic safety. This type of holistic analysis
is the logical effect of acknowledging that misdiagnosis is complex and that explanations of
misdiagnosis may explore everything from clinician-patient interactions to billing structure.

An example of the interplay between factors was evident in research showing patients with limited
English-language health literacy or disadvantaged socioeconomic position were more likely to report
unique contributing factors to their experience of diagnostic errors, such as a lack of interpreter
services. The interaction between systemic issues, i.e., lack of interpreter services, and interpersonal
patient factors, i.e., limited English-language health literacy, likely diminished diagnostic safety for these
patients.

Methods to Improve Diagnostic Safety

Because misdiagnosis arises from complex factors, reducing misdiagnosis requires interventions that
span contexts, from individual clinician training to organizational strategies to capture and analyze
diagnostic error. At the individual practitioner level, diagnostic mnemonics have been developed to
prompt clinicians with questions intended to reduce cognitive error, but these have shown mixed
results.7,8 AHRQ has developed the Calibrate Dx guide, which provides actionable guidance that scales to
particular needs at the level of individual practitioner whose scope of work includes diagnosis. However,
reducing misdiagnoses may require changing a healthcare organization’s institutional culture or
deploying tools that critically assess particular encounters.9 At the healthcare organization level, in 2018
the Health Research and Educational Trust released a toolkit to identify situations in which diagnostic
error might arise called “Improving Diagnosis in Medicine.”10 More recently, to facilitate learning and
improvement, AHRQ developed the Measure DX resource to help healthcare organizations identify and
analyze data to overcome obstacles to implementing diagnostic safety programs. The Measure Dx
resource has tools to engage organizational personnel in reducing misdiagnosis, assessment tools to
understand readiness of an organization to implement changes to reduce diagnostic error, as well as
data-driven solutions to reduce misdiagnosis

Beyond AHRQ-generated resources, in 2022 several authors published data on novel approaches to
mitigate misdiagnosis and improve diagnostic safety in medicine. A systematic review of diagnostic
safety checklists exposed gaps in the way these checklists are used. Although used extensively, the
review observes that few checklists incorporate human factors principles and instead tend to emphasize
cognitive factors involved in the diagnostic process. Because misdiagnosis is multifactorial, using
behavioral and physical subcomponents could improve efficacy of these checklists. Few studies
examining cognitive checklists found improved diagnosis; task-based checklists were more often
associated with improved diagnostic safety. Also, the use of a diagnostic time out, an intentional pause
to consider alternate diagnoses, was tested in a small pilot study over 12 months in a pediatric hospital.
This study found that over half of the cases selected for a diagnostic time out did not confirm the initial
diagnosis, and that implementing the pause was not found to be burdensome.

Another potentially promising, but possibly underutilized, strategy to mitigate human error is the use of
clinical decision support (CDS) tools. One example is a CDS tool for pulmonary embolism that was
created by incorporating a human factors approach through work system analysis, iterative design, and
usability testing. This tool was launched in an academic medical center, but despite high ratings of
usability and acknowledgment that diagnosing pulmonary embolism was difficult, the tool was not
broadly used, due to a lack of workflow integration in the real clinical setting. Challenges to implement
CDS supports to improve diagnosis in real-world settings are consistent with other studies; and CDS tools
may be most useful to younger, less experienced clinicians. The study authors note that the lack of use
of CDS tools appears to result from systemic, organizational problems, pointing to the need for
comprehensive all-level approaches to achieve greater safety in diagnosis. As research continues to
elucidate factors that contribute to diagnostic error, interventions that seek to mitigate error are being
developed and tested.

Future Directions

Additional elements of clinical decision making may yet be described, which could impact diagnosis in
the future. For instance, insight, or the ability to come to the correct diagnosis after initial uncertainty,
does not neatly fit into the prevailing dual process theory but may play a significant role in improved
diagnostic safety. Insight cannot be trained or taught but could be cultivated through both individual
education and intentional systemic design, as well as by using existing diagnostic safety strategies, such
as cognitive forcing functions, like having clinicians ask themselves “what else does this look like,” or
mnemonics that might similarly prompt a clinician to consider clinical contexts that may not first spring
to mind. Insight may be stimulated through greater patient and physician communication; if engaged in
offering diagnostic suggestion, a patient’s comments may be the catalyst to a clinician’s epiphany, that
is, their moment of insight that could avoid diagnostic error.

Beyond this, a key step to strengthening diagnostic safety is the widespread use of a comprehensive
framework for how to define and identify factors contributing to misdiagnosis. Current efforts to study
diagnostic safety are fragmented and stem primarily from surveys and expert opinions. With a
comprehensive framework, diagnostic safety can be bolstered at multiple levels. However, barriers exist
to changing current care practices, even if such practices are vulnerable to diagnostic error. These
barriers may be difficult to change, such as reimbursement models based on patient volume, or they
could be more amenable to intervention, such as institutional uncertainty about how to begin efforts,
which can be addressed via the Measure Dx tool. It is important to raise awareness about diagnostic
safety by emphasizing it (a) as a focused area for quality improvement at the healthcare organization
level, (b) as a research need especially for real-life studies not based on simulation, and (c) as an area for
continued clinician training and education.

Despite research that connects human action with system-level factors that influence diagnostic safety,
misdiagnosis is still often thought of as a problem of individual practitioners, which can lead to fear of
blame and hesitation among clinicians to discuss errors. The idea that misdiagnosis is primarily a
problem of individual practitioners also discourages broader investment in diagnostic safety. Causes of
misdiagnosis can often stem from a complex web of factors ranging from individual to system and
organizational levels. Using a more holistic approach for identifying and defining factors that lead to
misdiagnosis, such as the Systems Engineering Initiative for Patient Safety (SEIPS 2.0), which draws from
human factors research, may help better understand the root causes of misdiagnosis and can unify
researchers and healthcare institutions’ efforts in addressing them. Many organizations have committed
to continuous quality improvement with peer input and the use of technology; these efforts should be
focused on preventing diagnostic error. Application of the Measure Dx tool is a concrete step
organizations can take to shift away from framing diagnostic safety as a problem of individual
practitioners to a systems-based approach focused on opportunities to improve diagnostic safety
programs.

References
1. Burke HB. Quantifying diagnostic excellence [published online ahead of print, 2022 Nov 23]. Diagnosis
(Berl). 2022;10.1515/dx-2022-0104. doi:10.1515/dx-2022-0104

2. Committee on Diagnostic Error in Health Care, National Academies of Science, Engineering, and
Medicine. Improving diagnosis in healthcare. National Academies Press; 2015.

3. Graber ML, Franklin N, Gordon R. Diagnostic error in internal medicine. Arch Intern Med.
2005;165(13):1493-1499.

4. Newman-Toker DE, Wang Z, Zhu Y, et al. Rate of diagnostic errors and serious misdiagnosis-related
harms for major vascular events, infections, and cancers: toward a national incidence estimate using the
“Big Three.”Diagnosis (Berl). 2020;8(1):67-84.

5. Grantham J, Dark C. Report on ED diagnostic errors sparks controversy. ACEPNow. Accessed February
13, 2023. https://www.acepnow.com/article/report-on-ed-diagnostic-errors-sparks-controversy/

6. Blumenthal-Barby JS, Krieger H. Cognitive biases and heuristics in medical decision making: a critical
review using a systematic search strategy. Med Decis Making. 2015;35(4):539-557.

7. Chew KS, Durning SJ, van Merriënboer JJ. Teaching metacognition in clinical decision-making using a
novel mnemonic checklist: an exploratory study.Singapore Med J. 2016;57(12):694-700.

8. O'Sullivan ED, Schofield SJ. A cognitive forcing tool to mitigate cognitive bias-a randomised control
trial. BMC Med Educ. 2019;19(1):12.

9. Redmond S, Barwise A, Zornes S, et al. Contributors to Diagnostic Error or Delay in the Acute Care
Setting: A Survey of Clinical Stakeholders. Health Serv Insights. 2022;15:11786329221123540. Published
2022 Sep 13.

10. Health Research & Educational Trust. Improving Diagnosis in Medicine Change Package. Health
Research & Educational Trust; 2018. Accessed February 13,
2023. https://www.improvediagnosis.org/improving-diagnosis-in-medicine-change-package/
#:~:text=The%20Improving%20Diagnosis%20in%20Medicine,of%20patients%20and%20their%20families