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Challenging Diagnosis

Cystic Fibrosis and the Elusive Quest for Certainty

Highlights the experiences of patients to examine how diagnostic uncertainty in cystic fibrosis has persisted despite the introduction of new technologies.

Using the critical case of cystic fibrosis (CF), Challenging Diagnosis probes the sociocultural and scientific factors that have contributed to diagnostic uncertainty in medicine while foregrounding its impact on patients and families. Though often described in medical and biology texts as a model genetic disease, making it straightforward to identify, diagnosing CF has long been fraught with challenges. As Michelle LaBonte shows, looking at CF illustrates how diagnostic uncertainty has persisted despite—and even because of—new technologies.

Drawing on her own experiences as a patient with pancreatic insufficiency, a condition often seen in people with CF, LaBonte examines shifts in CF’s screening and diagnosis, from the first comprehensive descriptions of the disease in the 1930s to contemporary genetic testing for carrier status. Today, the diagnosis of CF is no more straightforward than it was in the mid-twentieth century. Since many diagnostic technologies for CF (or their analogs) have been used throughout medicine, as LaBonte explains, these findings are broadly applicable beyond CF and demonstrate the significant harms associated with relying on test results that prioritize disease specificity over patient narratives. 

In her historical analysis and her personal story, LaBonte highlights the shortcomings of a reductionist biomedical model that’s overly reliant on diagnostic technologies, a concern that’s more relevant than ever now that direct-to-consumer genetic testing and use of whole genome sequencing in newborns are increasing.


272 pages | 36 halftones | 6 x 9

History of Science

Medicine

Reviews

“For anyone who has faced an extended period of not knowing what ails them, diagnostic uncertainty can be profoundly frustrating. We look to medicine for answers, yet even as scientific and clinical progress is made, certainty eludes. Challenging Diagnosis is among the rare histories to confront this double bind. LaBonte treats the history of cystic fibrosis as an eighty-year diagnostic odyssey that has bred as much uncertainty and frustration as it has resolved. Juxtaposed with LaBonte’s own decades-long journey with an uncertain diagnosis, these well-told histories become bounty for reflecting on the potency and limits of biomedicine. After Challenging Diagnosis, physicians and patients might do well to recalibrate their expectations; something far more valuable than certainty lies in this journey.”

Stephen Pemberton, author of “The Bleeding Disease: Hemophilia and the Unintended Consequences of Medical Progress”

Challenging Diagnosis explores the meaning, scope, and ramifications of diagnostic uncertainty in the US today. In LaBonte’s careful analysis, CF becomes a case study of biomedical failure to research and explain disease prognosis and to adequately respond to the dilemmas created by screening and testing. She illuminates the individual experience of disease and uncertainty, especially people whose suffering remains undiagnosed and untreated and others who carry genetic variants that are not yet the target of medical breakthroughs. LaBonte uses her own experiences with diagnostic uncertainty and complexity to frame this well-written and accessible book. Challenging Diagnosis calls for more research into individual variation and prognosis, more individualized care, and less stigma surrounding symptoms that resist current medical explanation.”

Robert Aronowitz, author of “Risky Medicine: Our Quest to Cure Fear and Uncertainty”

“This engaging book explores the fascinating history of cystic fibrosis. LaBonte uses that history to illustrate an important understanding of the history of medicine—despite the nearly continuous introduction of marvelous new technology into health care, diagnosis and treatment will continue to be fraught with uncertainty.”

Joel Howell, author of “Technology in the Hospital: Transforming Patient Care in the Early Twentieth Century”

Table of Contents

Introduction
Chapter 1. Absent Enzymes: From Localized to Systemic Disease
Chapter 2. Salty Sweat: Obstacles to Using a Gold Standard Diagnostic
Chapter 3. Blood, Sweat, and Wrinkled Hands: Screening Tests for Cystic Fibrosis
Chapter 4. Missing Mutations: Complexity and Uncertainty in Cystic Fibrosis Genetics
Chapter 5. Elusive Microbes: Uncertainty in the Context of Secondary Diagnoses
Epilogue

Acknowledgments
Notes
Index

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