Why can a healthcare provider (HCP) have difficulty properly diagnosing diseases in a general patient population, including geriatric and pediatric patients?

Why Healthcare Providers Face Diagnostic Challenges

Healthcare providers struggle with accurate diagnosis primarily due to cognitive errors and faulty clinical reasoning, which account for the majority of diagnostic mistakes—not knowledge deficits. 1 This fundamental issue affects diagnosis across all patient populations, from pediatrics to geriatrics.

Primary Causes of Diagnostic Difficulty

Cognitive Errors Dominate Over Knowledge Gaps

• Faulty cognition and synthesis account for over two-thirds of diagnostic errors, not insufficient medical knowledge 1
• In pediatric echocardiography studies, cognitive errors represented 34-37% of all diagnostic mistakes, while technical factors accounted for only 31% 1
• Diagnostic errors occur in 10-15% of cases across medical practice, with the Institute of Medicine stating that "all of us will likely experience a meaningful diagnostic error in our lifetime" 1

Complexity of Modern Healthcare Systems

• Current healthcare models are built on a single-disease paradigm, making diagnosis of patients with multimorbidity particularly challenging 1
• Multimorbidity affects diagnostic accuracy and causes diagnostic delays with significant prognostic implications 1
• Most physicians, including subspecialists, encounter insufficient numbers of rare disease patients to gain meaningful diagnostic experience 1

Insufficient Exposure and Experience

• Rare diseases present a particular challenge: Because conditions like pulmonary arterial hypertension occur infrequently in the general population, most physicians—including pulmonologists and cardiologists—lack sufficient patient encounters to develop expertise 1
• Diagnostic accuracy improves dramatically with specialization: only 3% of diagnoses made by experts were inaccurate compared to 44% by non-specialists in pediatric studies 1

Specific Diagnostic Challenges by Context

Multimorbidity and Polypharmacy

• Guidelines provide insufficient decision support for screening and diagnostic procedures in patients with multiple conditions 1
• Cognitive dysfunction is frequently underdiagnosed in multimorbid populations despite its major impact on health status 1
• Healthcare models fail to account for how multiple conditions interact and affect diagnostic accuracy 1

Contested and Emerging Illnesses

• In the absence of scientific consensus, physicians must navigate competing accounts and develop individualized evaluation practices 2
• Physicians managing diagnostic uncertainty employ strategies including consulting ancillary information sources, conducting analytically informed testing, and considering physiological explanations of causation 2

Technical and Methodological Limitations

• Diagnostic test performance varies significantly based on disease prevalence, test standardization, and interpretation methods 1
• For hypersensitivity pneumonitis, serum antigen-specific antibody testing showed sensitivity ranging from 25-96% and specificity from 60-100%, with heterogeneity preventing reliable diagnostic conclusions 1
• Cross-reactivity, poorly standardized techniques, and incorporation bias (where test results become part of the diagnostic criteria) further complicate accurate diagnosis 1

Common Pitfalls in Diagnostic Practice

Over-reliance on Pattern Recognition

• Rare diseases are more likely to be misdiagnosed (odds ratio 9.2) compared to common conditions 1
• Diagnostic errors increase in specific contexts, such as post-operative recovery rooms (odds ratio 7.9) 1

Inadequate Systematic Evaluation

• Lack of methodical assessment tools: While various parameters exist for evaluating disease severity (WHO functional class, imaging, biomarkers), none have been prospectively validated for guiding specific therapeutic decisions 1
• Symptom-based criteria alone yield only modest diagnostic accuracy (positive likelihood ratio 2-3, negative likelihood ratio 0.2-0.6) 1

Communication Barriers

• Gathering information from talkative patients presents challenges requiring specific communication strategies 3
• Providers must balance directive approaches with relationship-building to obtain accurate histories 3

Strategies to Improve Diagnostic Accuracy

Referral to Specialized Centers

• Newly diagnosed patients with rare conditions should be referred to expert centers before treatment initiation 1
• Over 50 accredited centers exist in the United States for conditions like pulmonary hypertension, though outcome differences between expert and non-expert management have not been formally studied 1

Systematic Approach to Complex Cases

• Use validated diagnostic criteria when available: For Ménière's disease, specific criteria exist requiring 2+ episodes of vertigo lasting 20 minutes to 12 hours with documented hearing loss and fluctuating aural symptoms 1
• Apply appropriate screening for alarm features (weight loss, blood in stools, nocturnal symptoms, unexplained anemia, family history) to identify higher-risk patients requiring additional workup 1

Recognition of Limitations

• Understand test performance characteristics specific to your practice setting and patient population 1
• Acknowledge when evidence is insufficient: for blue-light filtering lenses, despite commercial claims, there is little evidence of benefit for visual performance or sleep quality 4
• Recognize that broadening diagnostic criteria to be more inclusive initially may capture more true cases while accepting some false positives 1

Critical Considerations

The fundamental issue is not what providers know, but how they think through diagnostic problems. 1 Improving diagnostic accuracy requires addressing cognitive biases, ensuring adequate exposure to rare conditions through referral networks, and developing systematic approaches that account for the complexity of modern patients with multimorbidity. 1