Challenging Diagnosis: Cystic Fibrosis and the Elusive Quest for Certainty
Autor Dr. Michelle LaBonte Ph.Den Limba Engleză Paperback – 19 oct 2026
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.
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Specificații
ISBN-13: 9780226853628
ISBN-10: 0226853624
Pagini: 272
Ilustrații: 36 halftones
Dimensiuni: 152 x 229 mm
Greutate: 0.45 kg
Ediția:First Edition
Editura: University of Chicago Press
Colecția University of Chicago Press
ISBN-10: 0226853624
Pagini: 272
Ilustrații: 36 halftones
Dimensiuni: 152 x 229 mm
Greutate: 0.45 kg
Ediția:First Edition
Editura: University of Chicago Press
Colecția University of Chicago Press
Notă biografică
Michelle LaBonte is assistant professor of history at Purdue University.
Cuprins
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
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
Recenzii
“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.”
“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.”
“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.”
“This is a vivid, illuminating study of medical uncertainty, something so many continue to experience even in our time of technically sophisticated medical care. LaBonte’s moving history of a genetic disease, cystic fibrosis, explores the transformation of this disease over the last century with special attention to changing diagnostic protocols. Extremely well written, accessible, and based on deep research, her study shows how elusive and medically vexing a well-known ‘single gene disorder’ can be. LaBonte herself may or may not have CF—she has one of the most important symptoms, but not other key signs. Her work suggests how critical attention to patient testimonials can be and calls for more systematic attention to them. The author dedicates the book to patients who have faced uncertain diagnosis (which I think must be pretty much everyone). The book is a wonderful contribution to the history of medicine and to our understanding of CF itself as a medical, political and social phenomenon.”
“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.”
“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.”
“This is a vivid, illuminating study of medical uncertainty, something so many continue to experience even in our time of technically sophisticated medical care. LaBonte’s moving history of a genetic disease, cystic fibrosis, explores the transformation of this disease over the last century with special attention to changing diagnostic protocols. Extremely well written, accessible, and based on deep research, her study shows how elusive and medically vexing a well-known ‘single gene disorder’ can be. LaBonte herself may or may not have CF—she has one of the most important symptoms, but not other key signs. Her work suggests how critical attention to patient testimonials can be and calls for more systematic attention to them. The author dedicates the book to patients who have faced uncertain diagnosis (which I think must be pretty much everyone). The book is a wonderful contribution to the history of medicine and to our understanding of CF itself as a medical, political and social phenomenon.”