Too much, too mild, too early: the excessive expansion of diagnoses

A summary of three articles

DOI https://doi.org/10.2147/IJGM.S368541

By Bjørn Hofmann 1, 2
1 Institute of Health Sciences, Norwegian University of Science and Technology, Gjøvik, Norway; 2 The Center of Medical Ethics, Faculty of Medicine, the University of Oslo, Oslo, Norway

Considerable scientific and technological progress has dramatically improved diagnosis. At the same time, false alarms, overdiagnosis, overmedicalization, and overdetection have emerged as corollaries compromising health care quality and sustainable clinical practice.

The article summarized here identifies three generic types of overdiagnosis: too much, too little, and too soon.

Due to significant scientific and technological advances, diagnoses have increased dramatically. More people are being diagnosed with more diseases than ever before, with an unwarranted expansion of diagnoses.

An increase in the number of diagnoses in the International Classification of Disease (ICD).

A-too many diagnoses:

This consists of labeling previously undiagnosed phenomena and including new phenomena in a pathology framework.
These may be a) ordinary life experiences, such as loneliness or grief, b) social phenomena, such as academic behavior in children (ADHD), or c) biomedical phenomena, such as high blood pressure, obesity, or risk factors that are measurable.
But this trend does not benefit individuals and can be harmful.

B-Diagnoses issued too lightly: setting thresholds too low and making it too easy to include in pathology

This is a lowering of the threshold for detection of pathology beyond what benefits the person, i.e., accepting threshold values that are too low.
By including less severe cases in the definition of disease or its diagnostic criteria, people may be diagnosed with diseases that may not bother them.
Examples include gestational diabetes and chronic kidney disease.

C- Diagnoses made too early:

Diagnosing conditions too early that will never impact individuals, detection of precursor or low-grade lesions, is consistent with overdiagnosis which leads to overtreatment.

Why is this harmful?

First, the author explains that our diagnostic capabilities far exceed our helping capabilities. Not only do we lack curative measures for all established diagnoses, but the many diagnostic technologies also come with errors, and we come to diagnose when it does not help people.
Although we can detect more phenomena than ever, we do not know if they are relevant in what they represent or predict.

A- over-diagnosing...

.... of biomedical phenomena when they are not experienced in pain, dysfunction or suffering leads to doing the wrong thing by applying inappropriate labels and treatments, diverting us from more effective measures and causing harm through treatment.
Mild hypertension or hyperglycemia, or various risk factors, such as obesity, are most often not experienced as painful or dysfunctional, but their treatment can introduce potential diagnostic and treatment-related harm.
For example, the increased use of statins inappropriately in people with no complaints leads to headaches, dizziness, constipation, diarrhea, muscle pain, fatigue, sleep problems, and decreased blood platelet counts. Here, getting an over-diagnosis can reduce the quality of life, cause anxiety and stigma.

B-In the case of a diagnosis made too lightly,

we inflate the diagnosis by including phenomena that are too mild to cause a symptom, pain, dysfunction, or suffering, and the treatment causes more harm than good.
In such cases, we provide unnecessary treatment and introduce potential harm through diagnosis and treatment.

C-Too early diagnosis,

(as in many screenings) leads to overdiagnosis and overtreatment and potential harm from both. The cases we detect and treat would never have caused the person problems if undiscovered.

Therefore, we violate the ethical principles of non-maleficence and beneficence.

In addition, we drain resources from health services (justice of care issue), and patients are unaware that they are overdiagnosed and overtreated (patient autonomy issue).

Other examples cited in the article:

Changing the definition of osteoporosis by modifying the T-score threshold that reflects bone density in the 2008 National Osteoporosis Foundation guideline increased the prevalence (present+new cases) from 21% to 72% in US women older than 65.
Changing the definition of prediabetes by fasting blood glucose in the 2010 American Diabetes Association criteria increased the prevalence from 26% to 50% in Chinese adults older than 18.

Conclusion

As a result, the author of the article suggests three ways to reduce excesses and advance higher-value care for the population: a)we must stop diagnosing new phenomena, b)we must stop diagnosing benign conditions, including lowering diagnostic thresholds, c) and we must stop looking for early signs and markers that do not cause pain, dysfunction, and suffering, and will not harm if undetected..

A more precise definition of overdiagnosis, the "too early" of the previous article

According to Jeffrey K Aronson, the concept of "Overdiagnosis" (the "too soon" of the previous article) includes 2 categories:
1° labeling people with a disease that, undiscovered, would not have harmed them ;
2° broadening the definition of a disorder to as many individuals as possible by changing the threshold of a diagnostic test (which is the same as "too light")

The author, a British clinical pharmacologist at the Centre for Evidence-Based Medicine (Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK), explains in his article published in the BMJ the genesis of this term, now included in the Mesh, (Medical Subject Headings) which is the reference thesaurus in the biomedical field.
Read here: https://www.bmj.com/content/375/bmj.n2854

In recent years says the author, "definitions (of overdiagnosis) that have been suggested include:
- "...people ...diagnosed with conditions that will never cause symptoms or death."
- "Diagnoses of a condition that, if not known, would not cause symptoms or harm to the patient in their lifetime."
- "(The act of) making people 'patients' unnecessarily, by identifying problems that would never have caused harm or medicalizing ordinary life experiences through expanded definitions of disease."

The last of these definitions include the two main factors that constitute overdiagnosis, although they are not synonymous with it: overdetection and over definition. "

The author further reminds us that overdiagnosis is not synonymous with a false alarm, although this confusion is often made. (Overdiagnosis: true lesion but whose discovery does not bring anything; false alarm: suspicion of cancer but which is not confirmed).

As a final thought, J. Aronson summarizes three different ways of turning people into "patients" or "sick":

1.         Labeling them with some condition that would not have harmed them if it had not been discovered; this is related to the heterogeneity of many conditions, resulting in a range of conditions within the category, not all of which require attention; this is called blurring within the disease category;
2.         Expanding the definition of a disorder to encompass more individuals; this has been attributed to what has been called the blurring of the outer boundary of a disease definition ;
3.         By labeling them with a category of illness that medicalizes ordinary experience, such as pregnancy, this phenomenon is known as "mongering."

A call from Canadian scientists

We conclude this article by quoting a call for action by Canadian scientists to improve health care education.

The authors write:
▸ Over the past decade, decisions about screening have become more complex owing to a better understanding of potential benefits and harms. Strongly held beliefs and screening advocacy from individuals and groups point to the need to understand and consider individual patient preferences and values in screening decisions.
▸ Many physicians, other health care providers, and learners find conflicting and misleading information on screening to be challenging.
▸ Most screening decisions include a trade-off between potential harms and benefits.
▸ Physicians should understand the evidence and communicate it using shared decision-making skills to arrive at an appropriate screening decision based on their patient's values and preferences.”

Many physicians, health professionals, and learners lack the necessary knowledge and skills related to screening challenges. Many lack critical thinking skills, statistical understanding, or communication skills.

The authors suggest a need to improve the training of physicians, health care professionals, and learners in screening, risk understanding, and risk communication.

Conclusion of the call:

There are two challenges:

The first challenge is the development of educational content related to key concepts related to screening.
The second challenge is the development of educational strategies to place the teaching and adoption of these concepts at the core of medical education among medical students, residents, and clinicians.

“Clinician teachers, learners, professional societies that develop guidelines, screening agencies, and academic institutions should reconsider the optimal approach to the uptake and implementation of guidelines. This change in focus should encompass the breadth of learners from undergraduate medicine to continuing professional development and the breadth of stakeholders from patients to agencies. Now is the time to swim against the tide and reconsider our approaches to teaching and communicating prevention and screening information, ensuring they encompass an understanding of complexity, core concepts, and best practices.”

References

  1. Hofmann B.
    Too Much, Too Mild, Too Early: Diagnosing the Excessive Expansion of Diagnoses. Int J Gen Med. 2022;15:6441-6450 https://doi.org/10.2147/IJGM.S368541

2. Viola Antao, Roland Grad, Guylène Thériault, James A. Dickinson, Olga Szafran, Harminder Singh, Raphael Rezkallah, Earle Waugh, Neil R. Bell 
À l’encontre du statu quo en matière de dépistage Canadian Family Physician May 2022, 68 (5) e140-e145; DOI: 10.46747/cfp.6805e140

3. Aronson J K. When I use a word . . . . Too much healthcare—overdiagnosis  BMJ  2022;  378 :o2062 doi:10.1136/BMJ.o2062

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