Quality healthcare is provided based on accurate diagnosis, which, in its turn, influences treatment decisions, outcomes of the recovery, and even the likelihood of the patient’s survival. However, the repercussions of an incorrect diagnosis can be decisive, ranging from unnecessary requirements for treatments to permanent disability or fatal results. One of the most significant threats to patient safety, health or life are the diagnostic errors, which are defined by the National Academies of Sciences, Engineering, and Medicine (NASEM, 2015) as “the failure to (a) establish an accurate and timely explanation of the patient’s health problem(s) or (b) communicate that explanation to the patient.” The main types of these errors are misdiagnosis, delayed diagnosis, and over-testing. Misdiagnosis occurs when a doctor registers an incorrect diagnosis regarding the patient’s health state. A delayed diagnosis occurs when the correct condition is recognized but later than necessary, and over-testing occurs when unnecessary procedures result in overdiagnosis and eventual damage to the health of the patient. Diagnostic errors are a tangible phenomenon which affects the lives of people daily. Dr Beigi (2024) proves the point through the real-life example where patients misdiagnosed with anxiety were actually experiencing heart disease.
Misdiagnosis
Misdiagnosis represents a situation in which a patient is mistakenly diagnosed with a condition that they do not have, or a situation in which the correct diagnosis is misidentified as another illness (NASEM, 2015). This is especially prevalent in diseases that portray symptoms similar to those of other conditions (NASEM, 2015). Misdiagnosis of autoimmune diseases, such as lupus and multiple sclerosis, can lead to psychological or minor issues; this serves as a good example to illustrate the point (NASEM, 2015). Ineffective treatments could also be the consequence of a misdiagnosis, leading to a therapy error (Beigi, 2024), while the actual disease continues to develop and persist (NASEM, 2015).
Misdiagnosis is particularly dangerous in cases of cardiovascular disease and cancer. A study done by Newman-Toker et al. (2019) has identified the most frequently misdiagnosed conditions, which are cancers, infections, and vascular diseases. According to their study, the misdiagnoses in these categories collectively account for almost three-quarters of critical diagnostic errors. Patients who are misdiagnosed in these categories experience permanent harm, such as disability or fatality (Newman-Toker et al., 2019). This proves the necessity of advanced diagnostic analysis, peer opinions, and enhanced access to highly developed or modern technologies for testing (NASEM, 2015; Newman-Toker et al., 2019).
Delayed Diagnosis
The term “delayed diagnosis” refers to a situation in which the patient is tested for the right condition, but not promptly (Singh & Graber, 2010). In many cases, the delay allows the disease to advance to a point where treatments hardly or not at all have a positive influence (Singer et al., 2016). For example, the risk of fatal cases is greatly increased with each hour of delay in administering antibiotics, as delayed identification of sepsis is a common cause of preventable hospital deaths (Singer et al., 2016).
Delays are often the result of structural issues, which include poor follow-ups on deviant test results, long waiting periods for consultations with professionals, or limited access to diagnostic imaging (Singh & Graber, 2010; NASEM, 2015). They might also result from cognitive errors, such as doctors’ failure to consider alternative possibilities, resulting in focus on the initial diagnosis (Singh & Graber, 2010). In order to capitalize on these missed cases, it is important to employ both technological advancements, like automated test results that give alerts and changes in professional attitude, which implies that physicians critically assess their own diagnostic decisions (Singh & Graber, 2010; NASEM, 2015).
Overdiagnosis and Over-testing
Although not paying substantial attention to testing and delaying the diagnosis are big challenges, their opposite is over-testing, which presents risks to the patients as well (Welch & Black, 2010). Over-testing is the process of ordering diagnostic procedures that are not essential or necessary (NASEM, 2015). Over-testing can result in overdiagnosis, which implies the identification of conditions that wouldn’t have caused problems for the patient’s health during his/her lifespan (Welch & Black, 2010). A good example to prove the point is cancer screening, like mammograms for women, where abnormalities identified during the diagnostic procedure might not develop into dangerous diseases or conditions (Welch & Black, 2010).
Aside from unneeded treatments, the consequences of over-testing can cause actual harm to the patient’s life. Patients may face complications, anxiety, and false positives because of the procedures (Welch & Black, 2010). From a structural perspective, over-testing increases healthcare costs and allocates resources ineffectively by taking away from patients who actually need those resources more (NASEM, 2015). This practice is also attributed to defensive medicine, which implies doctors requesting more tests to safeguard themselves against claims like malpractice (NASEM, 2015). It is important, however, to maintain a balance between proper diagnostic procedure and over-testing. In order to achieve this goal, testing guidelines should be evidence-based, and patients should be fully informed about the risks and benefits of screening (Welch & Black, 2010; NASEM, 2015).
Resolving the Issue
In order to reduce diagnostic errors, a layered approach should be employed regarding individual and structural issues that cause or accelerate chances for diagnostic errors (Singh & Graber, 2010; NASEM, 2015). Those measures could include strong education on diagnostic analysis and increased utilization of tools that support decision-making for physicians in identifying and mitigating cognitive biases at the clinical level (Singh & Graber, 2010). Singh and Graber (2010) emphasize the importance of investing in electronic health record (EHR) systems that detect deviant results, supporting improved communication among providers, and developing fast and effective follow-up mechanisms at the structural level (NASEM, 2015).
Developing a culture of learning and transparency is equally important. Diagnostic errors are often not disclosed due to fear of legal consequences (NASEM, 2015). Healthcare organizations can identify patterns and promote discussion of errors among the staff to prevent recurrence of such issues (Singh & Graber, 2010). Moreover, the active involvement of patients in the process of diagnostic procedures, including explanation of their symptoms, test results, and potential options, can greatly influence the number of errors (NASEM, 2015; Welch & Black, 2010).
Conclusion
Modern medicine experiences a significant challenge of diagnostic errors, which comprises misdiagnosis, delayed diagnosis, or over-testing (NASEM, 2015; Newman-Toker et al., 2019). Those errors result from cognitive biases, structural failings, and defensive practices, which greatly and negatively influence both the patients and the healthcare system (Singh & Graber, 2010; NASEM, 2015). Despite the fact that it would almost be impossible to fully solve the issue of diagnostic errors, it is possible to reduce some level of those errors. The number of diagnostic errors can be greatly reduced by healthcare systems through the use of technological innovation, clinical training, structural reforms, and increased patient involvement (NASEM, 2015; Welch & Black, 2010).
References
Beigi, P. (2024). Why Your Skin Issue Might Be Misdiagnosed! Dr. Beigi’s Insights | The Blissy Experience Ep. 10. YouTube; Blissy. https://www.youtube.com/watch?v=yA7PpiNM600
Newman-Toker, D. E., Schaffer , A. C., Yu-Moe, W., Nassery, N., Tehrani, A. S. S., Clemens, G. D., Wang, Z., Zhu, Y., Fanai, M., & Siegal, D. (2019). Serious misdiagnosis-related harms in malpractice claims: The “Big Three” – vascular events, infections, and cancers. De Gruyter Brill.
Singer, M., Deutschman, C. S., & Seymour, C. W. (2010). The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3). JAMA, 315(8). https://doi.org/10.1001/jama.2016.0287
Singh, H., & Graber, M. (2010). Reducing diagnostic error through medical Home-Based Primary Care reform. JAMA, 304(4), 463. https://doi.org/10.1001/jama.2010.1035
The National Academy of Sciences Engineering Medicine. (2015). Read “Improving Diagnosis in Health Care” at NAP.edu. In E. P. Balogh, B. T. Miller, & J. R. Ball (Eds.), nap.nationalacademies.org. THE NATIONAL ACADEMIES PRESS National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press. https://doi.org/10.17226/21794. https://nap.nationalacademies.org/read/21794/chapter/1
Welch, H. G., & Black, W. C. (2010). Overdiagnosis in Cancer. JNCI Journal of the National Cancer Institute, 102(9), 605–613. https://doi.org/10.1093/jnci/djq099
Provided and edited by the members of MARI Research, Error in Medicine Foundation and MISMEDICINE Research Institute, including Iness Arzumanyan, Athira ramdas, Rojina Nariman, and Dr. Pooya Beigi MD. MSc.