Diagnostics: How Important Is It to Receive a Diagnosis?

When a person falls ill, that is, begins experiencing symptoms that do not reflect those of a simple ailment that will pass by itself, seeking medical attention becomes the natural course of action. In this case, a diagnosis becomes the initial step towards getting better. A diagnosis is thought to be a socially constructed label that is given by a doctor to make sense of symptoms (Conrad & Barker, 2010). Diagnoses allow diseases to be classified into distinct categories and be given names to aid with the ability to distinguish the same illness in others (Jutel & Nettleton, 2011). However, an individual presented with a diagnosis, especially one that is chronic or terminal, can experience a significant turning-point in their lives (Jutel, 2019). Hence, this piece will explore the sociology of diagnoses, exploring both the positive and negative changes which can occur after an individual receives a diagnosis. Additionally, this article will discuss some current diagnostic techniques and decipher their impact on how a diagnosis is perceived.

Sociology of Diagnosis

A diagnosis is given to a patient by a medical professional, like a doctor or a psychiatrist. When a patient seeks help concerning their health, they put their trust into the knowledge of the medical professional and become set on following the recommendations given (Pearson & Raeke, 2000). Thus, medical experts are assigned a role of authority in the eyes of a patient. This may occur because of a medical expert’s status in society, earned by years of education and work, or due to their power in the clinical context where they are able to gather patient histories, conduct examinations and permit treatments that were otherwise not allowed (Greenblum & Hubbard, 2022). Overall, the words of a medical professional carries weight and hence, a diagnosis conferred by such a figure becomes symbolic and gives the patient the right to acquire the ‘sick role’ (Dumit, 2006). A diagnosis can legitimise the experience of a patient; symptoms that could have been attributed to fatigue or passed off as exaggerations become real when a doctor has uncovered a specific cause for them. Furthermore, a patient’s stress about having no knowledge of their condition can be resolved when they are presented with a clear description of their illness and given guidance (Sartorius, 2015). A diagnosis also benefits the physical health of an individual and of others. It gives the chance to commence treatment or take necessary precautions to prevent spread if the disease is detected to be communicable (Tobore, 2019). In more severe situations, when a patient is a diagnosed with a non-curable disease, the advantage of receiving a diagnosis is also visible. The receiver of a diagnosis can have a shift in their identity, referred to as biographical disruption or abruption. This is when the knowledge of having a disease, mental illness or disability causes dissonance with a person’s pre-established view of themselves and their plans for the future. This state sometimes presents itself as a sense that life is over in the case of terminal diagnosis (Bury, 1982) . However, individuals often find that with a diagnosis they are able to form new group identities, connecting with others that have the same diagnosis, and create a novel identity for themselves which takes into account their diagnosis (Locock et al., 2009). In other words, a diagnosis may be needed for a person to self-actualise after experiencing the change of living with an illness. Diagnoses can help individuals accept themselves and understand how to reach their fullest potential with their condition by prompting them to seek treatment, therapy or guidance on how to live with a chronic disease (Pichère & Cadiat, 2015).

Figure 1: Maslow's Hierarchy of Needs in Diagnosis (Reynolds, n.d)

Yet, reaching a diagnosis can also pose problems. Assigning an authority role to doctors may cause a phenomenon known as epistemic injustice, specifically testimonial injustice. Epistemic injustice refers to the undermining of a person’s credibility by judging their supposed knowledge capacity, often basing judgement on prejudice and stereotypes. A doctor, with their years of expertise and education, may perceive a patient as someone who is less capable of contributing relevant and valid information in comparison. The words of a patient may be perceived as too uninformed or simplistic and in turn, disregarded by the doctor (Fricker, 2017). This is known as testimonial injustice and is characterised by patients needing to convince doctors that they are actually sick (Heggen & Berg, 2021). This injustice can be further exacerbated when a patient suffers from co-morbidities. An existing condition, such as a mental health illness, may put an individual at risk of being viewed as someone who lacks credibility. Hence, a previous diagnosis can make it difficult to identify other diseases which the patient may be suffering from (Wodziński & Moskalewicz, 2023).

This ties in with the idea that a diagnosis, being a label which can frame how an individual is regarded by others, can come with an attached stigma. This is exemplified by reports from patients with autoimmune-deficiency syndrome (AIDS) (caused by the human immunodeficiency virus (HIV)) as this diagnosis is heavily associated with homosexuals and drug users. Interviews conducted with diagnosed patients had evoked poignant themes of discrimination and prejudice, implying that others may fear receiving the same diagnosis due to worries of experiencing prejudice afterwards (Hedge et al., 2021). It is also possible that a diagnosis does not fulfill its role in giving a patient clarity in terms of what is affecting them. Idiopathic multi-centric castleman disease is a rare inflammatory disorder which shares many symptoms with a range of autoimmune diseases like rheumatoid arthritis and systemic lupus erythematosus. This makes it particularly difficult to diagnose (González García et al., 2022). Yet, even when it is diagnosed in patients, the diagnosis does not aid in elucidating what is happening with an individual as the disease’s pathophysiology remains largely unclear (Fajgenbaum, 2022). The diagnosis of a very rare condition may also negatively impact an individual by perpetuating uncertainty about their future as FDA-approved treatments for rare disease are scarce (Commissioner, 2020). However, diagnoses of rare diseases in patients can prompt research to discover the mechanisms of the diagnosed illnesses, potentially facilitating future diagnoses in others (Fajgenbaum, 2022). Rare Disease Day is now celebrated on the 28th of February to raise awareness about the existence of infrequent diseases like idiopathic multi-centric castleman disease, giving the chance for affected individuals to feel recognised and hopeful for future therapies (National Organization of Rare Diseases, n.d).

Figure 2: Visual representation of stigma (Clabough, 2022)

Diagnostic Tests

For most conditions, a diagnostic criteria exists which gives an overview of what needs to be observed in a patient in order for a diagnosis to come into effect. Although clinical observations and evaluation of patient histories may be enough to diagnose some conditions, confirmatory diagnostic tests are commonly needed (Balogh et al., 2015). The two principle types of tests performed in the clinical setting are laboratory tests, such as blood or urine tests, and imaging, which includes x-rays and magnetic resonance imaging. It is important for diagnostic tests to have a high specificity and sensitivity, meaning the tests can accurately show a negative result when a patient does not have the illness or present a positive result when a patient is affected, respectively (Shreffler & Huecker, 2020).

Laboratory tests can prove useful in a wide range of scenarios; they can be used to quantify components of the blood, such as white blood cells, detect levels of biomarkers, identify microorganisms and evaluate antibody levels (Khattak et al., 2022). All these measures can act as a confirmation for a certain diagnosis. It is estimated by Centers for Disease Control and Prevention (2018) that around 70% of decisions in the clinical setting rely on laboratory tests. Although the accuracy of the laboratory procedure is often scrutinised when errors occur, diagnostic errors may also be attributed to inappropriate tests being ordered by the doctor, incorrect interpretation of a test result and the delays in getting test results (Epner et al., 2013). Another limitation is that laboratory tests compare patient results to that of a standardised range of results collected from ‘healthy’ individuals. This can lead to errors because the results which indicate the presence or absence of an illness can overlap, resulting in false-positives or false-negatives. This has been observed when testing for the biomarker troponin to identify incidences of myocardial infarctions (Clerico et al., 2023). False-positives are commonly identified due to patient variability which causes other biomarkers to cross-react with the troponin receptors in the diagnostic tests (Chaulin, 2022). As obtaining a diagnosis can alter various aspects of a person’s life, having a false diagnosis or having a diagnosis withheld from a patient can be detrimental.

Figure 3: Summary of the steps taken when ordering a diagnostic laboratory test (Epner et al., 2013)

Imaging tests are viewed as accurate diagnostic tools which are indispensable in the diagnosis of many diseases. Imaging techniques are able to visually represent internal organs, allowing doctors to have a better understanding of the patient’s condition when making their diagnosis (Hussain et al., 2022). Yet, a disadvantage of imaging tests is their cost and inaccessibility. Diseases with poorer prognosis, such as cancers, heart failure and neurological abnormalities, predominantly depend upon imaging studies for diagnosis. Hence, individuals of low socioeconomic status, as well as those in regions that lack access to imaging equipment and specialists, face inequality in terms of receiving a swift diagnosis (Frija et al., 2021). A study conducted in patients with lung cancer supported this as it was found that individuals of higher economic status were more likely to receive diagnostic imaging and treatment than those of lower economic status (Shah et al., 2020). Late diagnoses keep patients away from seeking treatment, worsening a person's prognosis and aggravating the uncertainty of their situation.

A significant issue with all types of diagnostic tests is the likelihood of them being overused. In a systematic review of 35 studies, Müskens and colleagues showed that prevalence of diagnostic test overuse varies dramatically. However, use of chest imaging, like x-rays and electrocardiograms, showed the highest percentage of overuse (Müskens et al., 2021). It is estimated that one in five diagnostic tests done on patients can be deemed as unnecessary. As a result, more patients may receive erroneous results, elevating the anxiety felt by an individual when they receive a false diagnosis. Additionally, overuse of diagnostic tests, especially imaging tests, increases the expenditure faced by the healthcare system. In turn, this reduces funding that goes towards patient treatment and novel diagnostic technologies (Vrijsen et al., 2020).

Figure 4: Infographic representing the statistics of diagnostic errors (Versel, 2016)

Self-Testing to Improve Diagnostics

Self-testing has garnered a reputation of being an effective, accessible and easy tool that can be used to obtain a diagnosis. Rapid lateral flow tests were first utilised in the form of a pregnancy test (O’Farrell, 2008). The technology of rapid lateral-flow tests involves applying a sample onto a test strip with target receptors and allowing the formation of binding complexes with specific analytes from patient samples. This method of diagnostic testing has since been used for detection of malaria, HIV, influenza and most recently, COVID-19. Although the accuracy of rapid tests is lower than laboratory tests, the large-scale distribution of COVID-19 tests during the global pandemic has shown that diagnostic tests can be made accessible and cost-effective to increase the rate of diagnosis and lower the transmission of infection (Budd et al., 2023).

A study conducted by the Peruvian Cervical Cancer Screening also portrayed the benefits of obtaining diagnoses through the use of self-testing. The human papilloma virus (HPV) is a sexually transmitted virus that is often detected in patients with cervical cancer. HPV screening is therefore an important clinical procedure needed for diagnosis and commencement of necessary treatment to improve prognosis. However, like HIV, HPV is a highly stigmatised infection, where affected women are perceived as promiscuous due to the origin of the infection. For this reason, HPV screenings and diagnoses, can be strikingly low (Ginjupalli et al., 2022). This non-adherence found in a study in Peru. The study involved community health workers distributing self-collection HPV kits to women living in two villages in Peru. It was found that out of the 643 women registered in the study, 632 submitted their self-collected samples. 81.4% of the women voiced their preference for self-collection of the cervical sample compared to clinical screening. The results suggest that self-testing can be used to resolve the issue of under-diagnosis, especially in under-sourced areas (Srinivas et al., 2020). Relating back to the sociology of diagnosis, it is evident that this self-testing method attempts to tackle the issue of stigmatised diagnoses by helping women feel in control of their own health (Ginjupalli et al., 2022). Additionally, self-testing eliminates the problem of testimonial injustice since medical professionals are not required for the diagnosis (Heggen & Berg, 2021). Thus, self-testing should be promoted for a range of diseases, especially in areas which have poor access to more advanced diagnostic tests. Yet, research is still needed to ameliorate the accuracy of home test-kits to avoid false-positive and false-negative results (Budd et al., 2023).

Figure 5: Infographic about HPV which raises awareness on the availability of self-testing (World Health Organisation Western Pacific Region, 2019)

Conclusion

To conclude, diagnostics is an invaluable component of healthcare. Receiving a diagnosis is an important process for the patient which can have a grandiose impact on shaping their future selves and in improving their prognosis. However, there are problems associated with obtaining diagnoses for stigmatised illnesses which needs to be combatted by giving the option of self-testing and raising awareness in the community about the condition in question. Also, testimonial injustice can hinder the diagnostic process hence, medical professionals need to be educated on how assumptions about a patient can impact patient-doctor interactions. Finally, accurate and appropriately administered diagnostic tests are crucial for improving the diagnostic process. Research endeavours need to focus on how to improve accessibility of clinical tests, develop accurate self-testing kits and prevent the overuse of diagnostic tests.

Bibliographical References

Balogh, E. P., Miller, B. T., & Ball, J. R. (2015, December 29). The diagnostic process. Nih.gov; National Academies Press (US). https://www.ncbi.nlm.nih.gov/books/NBK338593/

‌

Budd, J., Miller, B. S., Weckman, N. E., Cherkaoui, D., Huang, D., Decruz, A. T., Fongwen, N., Han, G.-R., Broto, M., Estcourt, C. S., Gibbs, J., Pillay, D., Sonnenberg, P., Meurant, R., Thomas, M. R., Keegan, N., Stevens, M. M., Nastouli, E., Topol, E. J., & Johnson, A. M. (2023). Lateral flow test engineering and lessons learned from COVID-19. Nature Reviews Bioengineering, 1(1), 13–31. https://doi.org/10.1038/s44222-022-00007-3

‌

Bury, M. (1982). Chronic illness as biographical disruption. Sociology of Health and Illness, 4(2), 167–182. https://doi.org/10.1111/1467-9566.ep11339939

‌

Centers for Disease Control and Prevention. (2018, November 15). Strengthening Clinical Laboratories | CDC. Www.cdc.gov. https://www.cdc.gov/csels/dls/strengthening-clinical-labs.html

‌

Commissioner, O. of the. (2020, February 20). Rare Diseases at FDA. FDA. https://www.fda.gov/patients/rare-diseases-fda

‌ Conrad, P., & Barker, K. K. (2010). The Social Construction of Illness: Key Insights and Policy Implications. Journal of Health and Social Behavior, 51, S67–S79. https://www.jstor.org/stable/20798317

Chaulin, A. M. (2022). False-Positive Causes in Serum Cardiac Troponin Levels. Journal of Clinical Medicine Research, 14(2), 80–87. https://doi.org/10.14740/jocmr4664

‌

Clerico, A., Zaninotto, M., Aimo, A., Cardinale, D. M., Ruggero Dittadi, Sandri, M. T., Marco Alfonso Perrone, Belloni, L., Fortunato, A., Tommaso Trenti, & Lippi, G. (2023). Variability of cardiac troponin levels in normal subjects and in patients with cardiovascular diseases: analytical considerations and clinical relevance. 0(0). https://doi.org/10.1515/cclm-2022-1285

‌

Dumit, J. (2006). Illnesses you have to fight to get: Facts as forces in uncertain, emergent illnesses. Social Science & Medicine, 62(3), 577–590. https://doi.org/10.1016/j.socscimed.2005.06.018

Epner, P. L., Gans, J. E., & Graber, M. L. (2013). When diagnostic testing leads to harm: a new outcomes-based approach for laboratory medicine. BMJ Quality & Safety, 22(Suppl 2), ii6–ii10. https://doi.org/10.1136/bmjqs-2012-001621

‌

Fajgenbaum, D. C. (2022). Chasing My Cure: Lessons Learned from My Rare Illness. 3–9. https://doi.org/10.1007/978-3-031-04935-4_1

‌Frija, G., Blažić, I., Frush, D. P., Hierath, M., Kawooya, M., Donoso-Bach, L., & Brkljačić, B. (2021). How to improve access to medical imaging in low- and middle-income countries ? EClinicalMedicine, 38, 101034. https://doi.org/10.1016/j.eclinm.2021.101034

‌

Ginjupalli, R., Mundaden, R., Choi, Y., Herfel, E., Oketch, S. Y., Watt, M. H., Makhulo, B., Bukusi, E. A., & Huchko, M. (2022). Developing a framework to describe stigma related to cervical cancer and HPV in western Kenya. BMC Women’s Health, 22(1). https://doi.org/10.1186/s12905-022-01619-y

González García, A., Fernández-Martín, J., & Robles Marhuenda, Á. (2022). Idiopathic multicentric Castleman disease and associated autoimmune and autoinflammatory conditions: practical guidance for diagnosis. Rheumatology. https://doi.org/10.1093/rheumatology/keac481

‌

‌

Hedge, B., Devan, K., Catalan, J., Cheshire, A., & Ridge, D. (2021). HIV-related stigma in the UK then and now: to what extent are we on track to eliminate stigma? A qualitative investigation. BMC Public Health, 21(1). https://doi.org/10.1186/s12889-021-11000-7

‌

‌Heggen, K. M., & Berg, H. (2021). Epistemic injustice in the age of evidence-based practice: The case of fibromyalgia. Humanities and Social Sciences Communications, 8(1).https://doi.org/10.1057/s41599-021-00918-3

‌

Hussain, S., Mubeen, I., Ullah, N., Shah, S. S. U. D., Khan, B. A., Zahoor, M., Ullah, R., Khan, F. A., & Sultan, M. A. (2022). Modern Diagnostic Imaging Technique Applications and Risk Factors in the Medical Field: A Review. BioMed Research International, 2022, 1–19. https://doi.org/10.1155/2022/5164970

‌

Jutel, A. (2019). Diagnosis: a critical social reflection in the genomic era. Ciência & Saúde Coletiva, 24(10), 3619–3626. https://doi.org/10.1590/1413-812320182410.34502018

‌Jutel, A., & Nettleton, S. (2011). Towards a sociology of diagnosis: Reflections and opportunities. Social Science & Medicine, 73(6), 793–800. https://doi.org/10.1016/j.socscimed.2011.07.014

Khattak, Z. E., El Sharu, H., & Bhutta, B. S. (2022). Overview On Ordering and Evaluation of Laboratory Tests. PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK570615/

‌

Locock, L., Ziebland, S., & Dumelow, C. (2009). Biographical disruption, abruption and repair in the context of Motor Neurone Disease. Sociology of Health & Illness, 31(7), 1043–1058. https://doi.org/10.1111/j.1467-9566.2009.01176.x

‌Müskens, J. L. J. M., Kool, R. B., van Dulmen, S. A., & Westert, G. P. (2021). Overuse of diagnostic testing in healthcare: a systematic review. BMJ Quality & Safety, bmjqs-2020-012576. https://doi.org/10.1136/bmjqs-2020-012576

National Organization of Rare Diseases. (n.d). About Rare Disease Day. https://rarediseases.org/rare-disease-day/

‌

O’Farrell, B. (2008). Evolution in Lateral Flow–Based Immunoassay Systems. Lateral Flow Immunoassay, 1–33. https://doi.org/10.1007/978-1-59745-240-3_1

‌

Pearson, S. D., & Raeke, L. H. (2000). Patients’ trust in physicians: Many theories, few measures, and little data. Journal of General Internal Medicine, 15(7), 509–513. https://doi.org/10.1046/j.1525-1497.2000.11002.x

‌

Pichère, P., & Cadiat, A.-C. (2015). Maslow’s hierarchy of needs. Lemaitre.

‌Sartorius, N. (2015). Why do we need a diagnosis? Maybe a syndrome is enough? Dialogues in Clinical Neuroscience, 17(1), 6–7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421902/

Shah, M., Parmar, A., & Chan, K. K. W. (2020). Socioeconomic disparity trends in diagnostic imaging, treatments, and survival for non‐small cell lung cancer 2007‐2016. Cancer Medicine, 9(10), 3407–3416. https://doi.org/10.1002/cam4.2978

‌

‌Shreffler, J., & Huecker, M. R. (2020). Diagnostic Testing Accuracy: Sensitivity, Specificity, Predictive Values and Likelihood Ratios. PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK557491/

‌

Tobore, T. O. (2019). On the need for the development of a cancer early detection, diagnostic, prognosis, and treatment response system. Future Science OA, 6(2). https://doi.org/10.2144/fsoa-2019-0028

Vrijsen, B. E. L., Naaktgeboren, C. A., Vos, L. M., van Solinge, W. W., Kaasjager, H. A. H., & ten Berg, M. J. (2020). Inappropriate laboratory testing in internal medicine inpatients: Prevalence, causes and interventions. Annals of Medicine and Surgery, 51, 48–53. https://doi.org/10.1016/j.amsu.2020.02.002

‌

Wodziński, M., & Moskalewicz, M. (2023). Mental Health Experts as Objects of Epistemic Injustice—The Case of Autism Spectrum Condition. Diagnostics, 13(5), 927. https://doi.org/10.3390/diagnostics13050927

Visual Sources