Ask your doctor if you might be suffering from “restless legs syndrome.” Or “low testosterone,” or “social anxiety disorder.” We’ve all seen the ads suggesting that our legs cramps or aging or shyness might instead represent a disorder with a name. One that, not coincidentally, could be helped by a medication manufactured by the sponsor of the ad. A medication for which you can ask your doctor for a prescription. But while doctors like to complain about Big Pharma’s “diagnosis mongering,” what if we are also part of the problem?
“Overdiagnosis: How Our Compulsion for Diagnosis May Be Harming Children,” in the November issue of Pediatrics, raises this question. The authors here are not referring to the kind of pseudo-disorders pedaled by industry. By overdiagnosis they mean the discovery of a true abnormality, where the diagnosis does not benefit the patient. This may include minor forms of a condition that would neither benefit from treatment nor be expected to progress to something more severe, or conditions for which treatment has been shown not to affect outcomes. Think of low levels of elevated bilirubin in a newborn, asymptomatic skull fracture due to minor accidental trauma, or positive IgE blood test results indicating a response to food allergens in the absence of clinical symptoms. None of these is treatable, and even knowing the diagnosis isn’t helpful in any way. Yet physicians often perform – and sometimes parents request – tests for these and other diagnoses.
What is behind this drive for a diagnosis that doesn’t matter? The article cites a few groups of factors. One is industry influence. There is no doubt that advertising does drive some demand. (There is a reason pharma spent $4.5 billion on direct-to-consumer advertising in 2009, in addition to support for various disease advocacy groups, with varying degrees of legitimacy.) Another is incentives in the current health care system. For one thing, providers are often financially rewarded for unnecessary testing and care. A review of pediatric quality measures also shows a marked bias toward indicators focused on underuse of resources rather than overuse. Public perception that diagnosis is more precise than it really is, coupled with an intuitive sense that it must be better to detect disease, as another factor. But the largest influence, according to the authors, is physicians themselves. We have a culture of intolerance of uncertainty. We hate not having an answer, something that is ingrained from the earliest days of medical education where students are encouraged to develop a lengthy list of potential diagnoses and then exhaustively eliminate them one by one until finally arriving at the right one. “Defensive medicine” is frequently cited, but most of the research suggests that this plays at most a minor role.
Cost is the obvious downside. But there are others. There are potential adverse physical effects, if having a diagnosis leads to treatment that will not benefit and might harm the patient. Sometimes the tests ordered in search of a diagnosis are themselves risky (procedures requiring anesthesia, for example, or radiation exposure). There is also real psychological harm in carrying a diagnosis. The newborn who is a little yellow and has a mildly elevated bilirubin gets a diagnosis of “hyperbilirubinemia.” A child with nonspecific symptoms who tests positive for antibodies to shellfish and eggs is now labeled as “food allergic.” Numerous studies have documented the “vulnerable child syndrome” in such children. It results in increased utilization of health care, overprotective parenting, and bullying, among other consequences.
There are several efforts – from professional societies and academic medical centers – targeted at both providers and lay people to increase awareness of the presence and problems of overdiagnosis. Traditionally, academic medicine has probably been more of a cause, but is now trying to be part of the solution.
Ask your doctor if you might be suffering from “adiagnosticophobia.”
Starting With Curious 
Hey Marc I call it part of newborn screening–and physiologic jaundice of the newborn. But I guess that is a diagnosis? I would argue that the baby does benefit from screening, and I emphasize to the parents how normal jaundice is in the newborn, it’s just a matter of finding the outlier.
PAR
PS Love the blog
Screening is great. The problem is when the thing you are screening for (in this case, a level of bilirubin that would cause kernicterus) isn’t there, but we either call the negative result something that sounds bad (like “borderline hypothyroidism”), or go ahead and treat it anyway, or keep repeating the screen until it’s really, really, really normal. And glad you like the blog
Yes this particular screen often results in repeats because the result places the baby in a “risk zone” that has recommendations for repeating the screen. I think in this case contributions to repeat screening include 1–the potential danger values occurring after discharge due to the natural history of the condition and 2–the problem with frequent handoffs to different providers from the inpatient to outpatient setting and inability to ensure follow up at times. When ordering an outpatient bilirubin, the provider does have to list the diagnosis–and here is the problem you write of–hyperbilirubinemia–and the baby has a diagnosis even though it is at a level that does not require treatment but requires followup. And you are right that some practitioners feel less comfortable than others with many repeats. Such is the nature of difficulties with screening.