When our kids are sick and we take them to the doctor, we expect a nice, concrete and presumably treatable diagnosis. It usually takes the form of a group of medical jargon that leads to a medication, surgery, or some intervention meant to provide relief. While this may seem logical, giving a label to a set of symptoms or an abnormal test may not only be useless and not improve the child’s quality of life– but also actually be harmful at times. This phenomenon, known as over diagnosis and seems to becoming more common in the era of expert panel recommended healthcare and mass health screenings. Screening is designed to identify children with a condition that needs treatment that will result in benefit to their health and well being, not just to identify those with a certain condition. It is that benefit that is often absent.
Experts are beginning to feel that over diagnosis is a problem, even for children. A recent in article in the journal Pediatrics illustrated the point when the authors analyzed a study designed to discover a type of brain tumor called neuroblastoma using a urine test in babies with the hope of providing early detection and treatment. The results indicate that a positive test for neuroblastoma and early treatment didn’t change the overall mortality rate for the condition. This must mean that either the treatment provided is ineffective or the disease potential of the tumor was being over diagnosed and not biologically meaningful. Or take ADHD for instance. I see children monthly who have positive scores on the standard measures of attention, impulsiveness, and hyperactivity whose learning does not seem to be impaired in the classroom…over diagnosis perhaps? Or children who have a positive blood test for a food allergy that have never had a serious food reaction making them sick. Over diagnosis again perhaps? If you have ever lived with a child who had a food allergy diagnosis, you know just how disruptive this diagnosis can be to a child’s life so getting it right is really important.
So, why has this become such a problem? Aren’t detecting illnesses like cancer good for people, especially children? If a doctor can detect any sort of abnormality, why not treat it? The answer is lack of benefit for the child. Not every single abnormal screening test or laboratory test will lead to disease, disability, or death. The researchers mentioned previously discovered that even some cancers like neuroblastoma don’t always make children sick and detecting and treating them may actually be harmful! I was reminded of this fact forcefully by a mother of a now 16 year child who because of an abnormal newborn screen 16 years ago, was diagnosed with a potentially life threatening metabolic disorder called acylcarnitine deficiency. She was followed by experts and given the standard treatment for many many years. Mom reminded me that her treatment cost the family $100,000.00 and was very disruptive to their family. Now, in the rear view mirror of time, her doctors agree that she has a “Benign” genetic variant of acylcarnitine deficiency and never needed any treatment at all. Unfortunately our healthcare system, with the best of intentions, directly supported over diagnosis in her case. This need to detect everything under the sun can lead to tremendous waste. Some believe that unnecessary procedures and testing may equal almost 50% of all expenditures in the U.S. healthcare system! To resolve this problem, doctors must stay true to the adage of ‘Do no harm.’ We have to learn how to distinguish useful diagnosis from useless, and potentially dangerous over diagnosis.
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Written collaboratively by Dr. Norman Spencer and Dr. Paul Smolen
1. Over diagnosis: How Our Compulsion for Diagnosis May Be Harming Children
2. Overdiagnosis in Pediatric Care? Defining, Gauging the Problem