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How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program. Pediatr Clin North Am 2017 Feb;64(1):1-15

Date

11/30/2016

Pubmed ID

27894438

DOI

10.1016/j.pcl.2016.08.002

Scopus ID

2-s2.0-84999036765   13 Citations

Abstract

The scientific process of analysis and deduction is frequently, often subconsciously, used by physicians to develop a differential diagnosis based on patients' symptoms. Common disorders are most frequently diagnosed in general practice. Rare diseases are uncommon and frequently remain undiagnosed for many years. Cognitive errors in clinical judgment delay definitive diagnosis. Whole-exome sequencing has helped identify the cause of undiagnosed or rare diseases in up to 40% of children. This article provides experiences with an undiagnosed or rare disease program, where detailed data accumulation and a multifaceted analytical approach assisted in diagnosing atypical presentations of common disorders.

Author List

Kliegman RM, Bordini BJ, Basel D, Nocton JJ

Authors

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
Brett J. Bordini MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
James J. Nocton MD Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Child
Decision Making
Delayed Diagnosis
Diagnosis, Differential
Diagnostic Errors
Exome
Humans
Judgment
Rare Diseases
Sequence Analysis, DNA