Looking for trouble? Diagnostics expanding disease and producing patients

Area of Science:

• Medical diagnostics
• Health policy
• Clinical decision-making

Background:

• Novel diagnostic tests enable earlier and more precise disease detection.
• However, new tests can lead to overdiagnosis and overtreatment, causing patient harm.
• Evaluating diagnostic strategies is crucial to maximize benefits and minimize risks.

Purpose of the Study:

• To identify and analyze errors within the diagnostic process that contribute to disease expansion and overdiagnosis.
• To propose strategies for evaluating diagnostic tests to ensure beneficial use and prevent harm.
• To refine the understanding of diagnostic validity and disease nomenclature.

Main Methods:

• Analysis of the diagnostic process and its core concepts.
• Identification of three key errors leading to overdiagnosis: decoupling diagnostics from harm, bypassing test validation, and linking disease names to non-specific indicators.
• Conceptual framework for evaluating diagnostic tests and their clinical implications.

Main Results:

• Three primary errors in diagnostics were identified: diagnosing insignificant conditions, inadequate validation of test-disease relationships (e.g., Alzheimer's biomarkers), and naming conditions after diseases based on weak indicators (e.g., ductal carcinoma in situ).
• These errors contribute to unwarranted disease expansion and patient harm through overdiagnosis and overtreatment.
• Failure to address these errors risks undermining the benefits of diagnostic advancements.

Conclusions:

• Avoiding diagnostic errors is essential for promoting beneficial testing and preventing harmful diagnostics.
• Recommendations include focusing on conditions with clear links to harm, implementing stringent test verification, and avoiding disease-like nomenclature for early or uncertain conditions.
• A critical evaluation of the diagnostic process is necessary to harness the power of new tests responsibly.