A British neurologist has written The Age of Diagnosis – How our obsession with medical labels is making us sicker. Dr Suzanne O’Sullivan’s book is divided into a prologue, an introduction, six chapters, and a conclusion. Each chapter deals with a specific disease or diagnostic category that suffers from the unintended consequences of overdiagnosis.
This is an important book that addresses a problem that increasingly affects modern medicine and social life. The issue is not a new one. I’ve confronted it in my practice for more than 60 years. When I was a relatively new physician, I became aware of the problems inherent in routine mammography and PSA (prostate-specific antigen) screening in men. Dr O’Sullivan does not address the former, though mammography is discussed in chapter 4 – The Cancer Gene. Screening for prostate cancer is discussed at length in that chapter. She also stays away from alcohol and drug addiction as diseases.
There’s a lot of repetition in the book, but given the subject’s importance and the lack of appreciation by both the public and physicians, the repetition is justified. The book’s message is that overdiagnosis pervades medical practice like a metastasizing form of a medical variant of Gresham’s Law – overdiagnosis drives out useful diagnosis. More on this below.
There are a few subjects that would have fit nicely into this book that were omitted. Fibromyalgia is mentioned just once, and transgender care not at all. In 61 years of activity in the medical profession, I saw not a single person claiming to be transgender. Since my retirement, the condition has become a global phenomenon. It’s now as much a political hot button as it is a medical monstrosity.
As O’Sullivan is a Brit, she probably avoided the issues for fear of her life and license. The same is true of her confrontations with the third-person singular pronoun. She uses they and them with such abandon that I often had to go back a few sentences to determine whether she was writing about one person or two or more. She also seemed uncertain of the gender of her own personal physician. She could have avoided the problem by using plural nouns if she were so disturbed by the third-person singular. It may be that she’s woke but enlightened woke. She also favors the use of gene variant instead of mutation.
Basically, she’s dealing with disorders of affluence and the medicalization of unhappiness. The subject matter calls to mind Faulkner’s observation, “That there’s a pill for every ill but the last one.”
I don’t want to pick too many nits with this fine, informative, and useful book. She starts with a lethal disorder – Huntington’s Disease. The disease is due to a single mutation on chromosome 4 that is dominant with 100% penetrance. Thus, if one parent has the gene, a child has a 50% chance of having the disease. The disease is untreatable and invariably fatal after an extended period of physical and mental deterioration. The causal gene can be detected from a blood sample.
Wouldn’t people at risk for the disease want to know if it’s in their future? It’s not that simple. The disease typically doesn’t manifest itself until middle age. If there was no prior history of HD, the first family member to be diagnosed with HD may have adult children of childbearing age who have no symptoms of HD. Thus, a positive test for HD puts children and their progeny at risk. Should they all be tested. Many say no, they’d rather not know.
On the other hand, what if a person at risk decides to have children? Any child born to an at-risk parent who has not been tested has a 25% probability of having HD. If the parent is negative, the probability drops to zero. If the test is positive, it’s now 50%.
In vitro fertilization (IVF) and pre-implantation diagnosis are possible, but they are costly, and IVF is much less likely to result in a successful pregnancy. If the parent has not been tested, all this is done to avoid having a child with a 25% chance of getting the disease well into middle age. A complicated decision. Interestingly, 90 % of at-risk patients who go to a genetics clinic and are offered the test refuse it.
People at risk for a disease, with or without a positive diagnosis, start to attribute any symptom, however minor, as the start of the disease, even when it’s not. For people with a positive test for HD, anything out of the ordinary is likely to be seen as the onset of HD even when it’s years away. Thus, people with a positive test may lose many healthy years.
Predictive testing is now being used with ever increasing frequency for diseases in which the gene tested for does not carry a 100% certainty for later disease. The potential for medical mischief here is enormous. Sullivan concludes the chapter with: “Knowing for sure may prove to be more painful than uncertainty.”
Chapter Two deals with two disorders – Chronic Lyme disease and Long Covid. Chronic Lyme Disease has no scientific evidence of any connection with the bacterium Borrelia burgdorferi, the pathogen that causes Acute Lyme Disease. Similarly, Long Covid is not associated with SARS-CoV-2, the virus that causes COVID-19.
There are a lot of poorly controlled and poorly performed tests for exposure to B. burgdorferi in patients with Chronic Lyme Disease. O’Sullivan says many doctors don’t understand the test they are ordering. This is not new to medicine. The intricacies of complex biomedical testing have long been either beyond the limits of many physicians’ knowledge or of insufficient interest to them. While overdiagnosis of Chronic Lyme Disease is orders of magnitude more common, underdiagnosis does occasionally occur. The proliferation of the diagnosis of Chronic Lyme Disease is that having a label put on psychosomatic symptoms makes people feel much better. I’m reminded of pianist and wit Oscar Levant’s reply to being told that all his myriad hypochondriacal complaints were in his head: “What a terrible place for it to be.”
Long Covid falls into the same category as Chronic Lyme Disease. There is no scientific evidence linking the syndrome to a viral infection. All such attempts have fallen short. Psychosomatic illness is far and away the best explanation. Dr O’Sullivan is careful to distinguish psychosomatic from malingering. The former causes real symptoms that do not need more tests and drugs, but rather understanding and redirecting behavior. The patient is likely to reject a psychosomatic diagnosis.
Autism is the subject of the next chapter. Virtually everyone has heard that the diagnosis of autism has proliferated such that one in thirty-six American children is now deemed autistic, up from one in one hundred and fifty twenty years ago. This increase is due to a broad expansion of the definition of the disorder from what it was when initially described to milder and milder forms, such that mere inattentiveness is enough to warrant the diagnosis. O’Sullivan faults the DSM-4 and DSM-5 for continuously moving the goalposts. This growing overdiagnosis diverts attention and resources away from the truly disabled by severe autism. An example of Medical Gresham’s Law described above. The diagnosis of Autism has stretched to the breaking point and outgrown its purpose.
The screening for genes associated with increased risk of cancer receives a detailed analysis. Doing a bilateral mastectomy on a woman with a BRCA mutation is heroic therapy for a disease that can be detected early by enhanced surveillance. There’s now a tendency to screen women without an increased risk of breast cancer for these genes. If one is found, we don’t know the likelihood that the woman with the mutation will ever get breast cancer.
Commercial companies are now doing gene screening. God knows what their standards are. They are said to have false positive rates of up to 96%.
The overdiagnosis of prostate cancer receives a thorough analysis. It’s been the subject of many articles on this site, so I won’t discuss it further.
ADHD gets a long discussion in a chapter devoted to it and depression, and neurodiversity. Like autism, its diagnosis has expanded faster than the cosmos. For some obscure reason, O’Sullivan never defines the abbreviation. It stands for attention deficit hyperactivity disorder. The pathologising of mental health and behavioral disorders is now trendy. People want a medical diagnosis to excuse poor behavior. They are indignant when such a diagnosis is not deemed warranted. The pharmaceutical industry is in cahoots with the medicalization of behavioral problems for obvious reasons. There’s much more about depression and neurodiversity.
After repeatedly taking the DSM to task, O’Sullivan still thinks it may have a purpose. I do not share this position. It’s a joke book written by true believers who make their living from medicalizing unfortunate behavior. True mental diseases like schizophrenia make up a small part of the manual and could easily be moved to a different volume.
Dr O’Sullivan has written an important book that tries to put a damper on runaway diagnoses. It deserves a careful read by both doctors and laymen. Highly recommended.
On a personal note, I used to tell my trainees that I didn’t know the cause of 95% of the things my patients complained of. They thought I was kidding, but I wasn’t. My approach was to let them (patients) talk for as long as they wanted and gently suggest a way to move forward. They usually disregarded my suggestions, but felt good about the conversation. Three things could happen. The symptoms could get worse, and we’d solve the problem. They could stay the same, requiring more talk. Or they would go away – problem solved by the most efficacious medicine, tincture of time.
