Overdiagnosis – the hidden harm in our attempt to figure out what’s going on!

Contributor: Dr. Henry Siu

Overdiagnosis means making people into patients unnecessarily1. Over-testing and investigations result in the overdiagnosis of diseases that were never going to cause harm2. Overdiagnosis can occur in the context of cancer screening interventions where epidemiologic data would suggest that earlier diagnosis of certain cancers have not resulted in a reduction of the overall prevalence of advance disease, cancer death, or all-cause mortality. In fact, in the investigation and work-up of the cancer, harm could be experienced by the patient; specifically in the form of complications from investigation or side-effects from treatment and medications, including the psychological burden of having a disease label, like “cancer”.

For older adults, over-applying screening recommendations, over-investigating vague presenting complaints, and redefining diseases based on changes to disease-centric guidelines can all lead to overdiagnosis. Overdiagnosis leads to the over-medicalization of older adults, which can result in a treatment cascade. There can be an explosion of new specialist referrals, serial investigations, and new “evidence-based” medications, leading to significant polypharmacy. While diagnosing and treating diseases with significant negative health outcomes is valuable (e.g., treating a wound infection or correcting poor vision due to cataracts), the real harms associated with overdiagnosis make the value of the diagnosis much less apparent.

Firstly, it is important to remember that all our screening recommendations are based on studies and results in a different population than our frail elderly. Often the frail elderly are excluded from intervention studies (e.g., RCTs) that inform these guidelines. Some guidelines have attempted to address this by stating that clinicians should not apply their recommendations in those with a limited life expectancy. This often translates into an age cut-off (e.g., stop screening at 80, because the average life expectancy would be less than 10 years) but does not address the heterogeneity of the older adult population at any specific age due to frailty. Therefore, before you screen for cardiovascular risk or the presence of an abdominal aortic aneurysm with an ultrasound in a frail older adult, consider balancing the risk of developing the negative health outcomes related to this diagnosis against the potential harms of the treatments and investigations an individual may endure.

Secondly, we are all familiar with the “incidentaloma”3. Unsurprisingly, incidence of incidentalomas rise when the amount of imaging tests that are ordered rises. For example, while 1 in 10 people will have a pituitary incidentaloma, only 1 in 1000 are clinically significant4. Another example, 15% of CT studies will show a hepatic incidentaloma4. In the frail older adult, imaging is often a recommendation made in response to vague presenting complaints, especially after initial bloodwork investigations are normal. Incidentalomas cause frustration and often an audible groan when reading a radiologist’s suggestions “clinical correlation required” or “recommend repeat imaging in 6 months to ensure stability”. These unanticipated incidental findings commit the clinician and patient to an investigative journey that can be anxiety inducing and time intensive. Therefore, before you order an ultrasound or CT scan in a frail older adult, consider balancing the risk of overdiagnosis and incidentalomas against the risk of being comfortable with the uncertainty of not having the answer. When teaching learners, take the opportunity to challenge a management plan which includes tests that are ordered “just in case”. Teaching learners to use “time” in primary care as a management plan option can be very helpful in reducing “just in case” test ordering. 

Lastly, overdiagnosis can occur when diagnostic criteria for certain diseases are re-defined (or over-defined). This happens when the diagnostic cut-off is changed (typically lowered) resulting in more people being “diagnosed” with a condition. Hypertension and Pre-diabetes are two such examples. In the context of frail older adults, a single-disease treatment approach leads to over-medicalization and significant risks for polypharmacy. If a hypothetical older adult with five common chronic conditions were managed “by the book”, they would be on 12 medications, and have a list of patient-tasks that would lead to patient disengagement and frustration6. Therefore, before applying lower disease definition cut-offs that will classify more older adults as “diseased”, take the opportunity to understand the impact of the frail older adult’s chronic condition on their function and quality of life. Proposing a treatment plan that maximizes function and quality of life while accepting a higher blood pressure or poorer glycemic control is a very valid option in the frail older adult.

It goes without saying that these suggestions to reduce overdiagnosis will involve an informed discussion with the older adult about their goals of care and about their attitude towards their condition. The goal of this Info-Morsel isn’t simply to encourage “ordering less”; hopefully this Info-Morsel will help us to be more reflective and mindful about our own desire to seek out the diagnosis, keeping the potential harms of overdiagnosis in mind and inform our guidance of our learners.

Take-away tidbit

Older adults can be overdiagnosed in primary care. Overdiagnosis has a very real harm for frail older adults by subjecting them to unnecessary investigations, and a treatment cascade that can over-medicalize and negatively impact the older adult’s quality of life. By being mindful of how we apply screening guidelines, how we investigate vague presenting complaints, and how we critically evaluate redefinitions of diagnostic definitions for common diseases, we can do our part in preventing overdiagnosis in older adults. TALKING TIP (in the context of over-investigation): “Based on our encounter today, I feel we are dealing with [insert provisional diagnosis]. I am going to hold off on ordering [insert tests that would have been ordered “just in case”], and hold them as a secondary investigation plan in case we do not get the answers we need in our initial investigation plan.”

References

  1. Brodersen J, Schwartz LM, Heneghan C, et al. Overdiagnosis: what it is and what it isn’t BMJ Evidence-Based Medicine 2018;23:1-3.
  2. Kale MS, Korenstein D. Overdiagnosis in primary care: framing the problem and finding solutions. BMJ 2018;362:k2820
  3. Hitzeman N, Cotton E. Incidentalomas: initial management. Am Fam Physician. 2014 Dec 1;90(11):784-9. PMID: 25611713.
  4. Gould MK, Fletcher J, Iannettoni MD, et al.; American College of Chest Physicians. Evaluation of patients with pulmonary nodules: when is it lung cancer?: ACCP evidence-based clinical practice guidelines (2nd edition). Chest. 2007;132(3 suppl):108S-130S.
  5. Thériault G, Grad R, Dickinson JA, Singh H, Antao V, Bell NR, Szafran O. (2023) Beware of overdiagnosis harms from screening, lower diagnostic thresholds, and incidentalomas. Canadian Family Physician, 69 (2) 97-100; DOI: 10.46747/cfp.690297
  6. Boyd CM, Darer J, Boult C, Fried LP, Boult L, Wu AW. Clinical Practice Guidelines and Quality of Care for Older Patients With Multiple Comorbid Diseases: Implications for Pay for Performance. JAMA. 2005;294(6):716–724. doi:10.1001/jama.294.6.716