Essays – Introduction

The diagnostic process is as old as medicine itself, and seems to be just taken for granted these days, like a relic tucked away in the attic. There are no NIH institutes dedicated to diagnosis, clinical reasoning is not emphasized in medical school curricula, and the process seems to have been largely overlooked in the modern efforts to improve healthcare quality through measurement. The same passive disregard applies to diagnostic error, which may be the most common and injurious of all patient safety concerns. Neither issue, diagnostic quality or diagnostic safety, is on the radar screen in most practices or hospitals.

A major goal of our new journal Diagnosis is to move both of these issues from the back burner to the front. We hope to shine a light on diagnosis and diagnostic error and spark creative dialogue on both topics. We also hope to expand the community of individuals and stakeholder groups interested in joining this discussion.

To jump-start this effort, the first issue of Diagnosis is entirely devoted to reflections on diagnosis and diagnostic error from thirty thought-leaders and senior statesmen and women. Individually, the essays provide unique insights on a wide range of topics, from what diagnosis means to us as patients and providers, to state-of-the-art reviews about the current status of diagnosis and diagnostic error in various medical disciplines. Collectively, the essays provide a rich overview of the current landscape from the perspectives of patients, physicians, educators, researchers and scientists.

The essays are divided into four groups, each with a common theme:

Diagnosis – where its been and where its going The first group of essays includes an overview of diagnostic error as a safety concern from Bob Wachter, one of the America’s foremost advocates for patient safety, and an early champion of interest in diagnostic error. The essay by Lincoln Weed and Lawrence Weed is a classic summary of their analysis of why diagnosis fails and what can be done for it to achieve its full potential. The essay by Jerome Kassirer offers an engaging reflection on the trend in modern diagnosis to “test first, think later”. Kassirer offers the novel observation that this may actually have some benefits, without replacing the invaluable contribution of classical clinical decision-making. Finally, Mark Graber offers his vision of how diagnosis will inevitably improve in the years ahead.

Foundations of diagnosis Each of these essays discusses fundamental concepts relating to diagnosis and clinical reasoning, or provides a helpful and new framework to better understand these concepts. Michael Kohn reviews the importance of understanding an evidence-based approach to diagnosis. Robert Hamm and Pat Croskerry both discuss important concepts in cognition and metacognition: Croskerry reminds us that bias is more the default operational mode of cognition than the exception, and Hamm emphasizes the importance of understanding both the cognitive AND the metacognitive processes involved in optimizing diagnosis. Kerm Henriksen raises interesting questions around the socio-technical complexity of trying to understand and improve the diagnostic process. Is the focus on error serving us well? Is feedback likely to be beneficial or harmful? Finally, David Newman-Toker offers a new framework to understand the complex relationships linking the diagnostic process to diagnostic error and harm.

The Perspectives section includes observations from both sides of the exam table. Modern concepts of diagnosis view patients and providers as the co-equal partners in the diagnostic process, and this relationship is extensively explored by four leading patient advocates, who discuss diagnosis as a social process. Teresa Graedon argues that the current patient-physician model needs to evolve to one where patients are proactive in their care both during and after the diagnostic encounter. Michael Millensen advances this case for patient-centered care, emphasizing the concept that “patient engagement is a skill, not a trait”. It is not enough to believe in patient engagement, to achieve this will requires training and practice. Kathryn McDonald discusses diagnosis in the context of social networks and as a team sport, with the patient being the star player. Helen Haskel speaks from her firsthand experience with catastrophic diagnostic error, and argues that diagnostic errors arise most commonly from a breakdown in the patient-physician relationship. “Diagnosis is born in a relationship” and communication is the key to determining whether this relationship is successful or not.

The physician perspectives span several different fields. Robert Center Gustavo Heudebert, and Geeta Singhal reflect on what diagnosis means to them in internal medicine and pediatrics, respectively, and how they convey this meaning to their trainees. Diagnostic errors have been studied more extensively in radiology and laboratory medicine/pathology, and updates in these fields are summarized by Len Berlin, Stephen Raab, Michael Laposata, and Mario Plebani.

Is clinical reasoning in surgery any different than in internal medicine? Watters, Beasley, and Crebbin explore surgical decision-making through use of a dialogue between two surgeons. Their essay includes a useful graphic model of surgical decision-making that will find application in a wide range of disciplines. Phil Hughes expands on the diagnostic process in surgery, emphasizing the importance of team input on decision-making, and the need to be resilient and think “outside the box”.

Finally, James Phillips considers whether it is even possible to define diagnostic error in psychiatry, given the paucity of definitive diagnostic tests and gold standards. His essay points out the pressing need for ways to differentiate disease categories in mental health, and the shortcomings of trying to use surrogate standards, such as expert opinion, or guideline-based definitions. Improving diagnosis in psychiatry clearly represents a challenging new frontier.

Diagnostic error – moving towards solutions The final group of essays focus on interventions to improve diagnosis. The essays consider the potential benefits that might be achieved using decision support (Eta Berner) or checklists (John Ely), and ensuring a complete differential diagnosis (Jason Maude).

Three essays focus on education: Richard Cohen and Kevin Eva present a case for improving diagnosis by better integration of conceptual knowledge and clinically focused problem solving in medical school curricula, replacing the Flexnerian “2 plus 2” paradigm still widely favored. Frank Papa presents a related and novel suggestion for education that begins by presenting students with typical cases, then ever-more-diverse variants, and consolidating this learning through extensive and relevant feedback. Eric Holmboe and Steven Durning suggest that current credentialing procedures aren’t enough to guarantee proficiency in diagnosis, and that these evaluations should be supplemented by “in vivo” assessments taking place both in training and then in practice.

From the perspective of a cognitive scientist, Laura Zwaan’s concluding essay echoes the proposition of the Weeds: eliminating the inherent human variability in information processing is the key to reducing diagnostic errors.

Far from comprising a definitive overview of diagnosis and diagnostic error, we hope that these essays are just the opposite: A welcome first step in promoting the kind of interdisciplinary open dialogue this field needs. We hope you enjoy these essays, and share them with colleagues and students.

Mark L. Graber, MD, FACP

Co-Editor in Chief, Diagnosis