The age of diagnosis

It’s easy to see why there is a problem of overdiagnosis when it is so skilfully defended by the very people who should be calling it out, argues Terry Maguire

Dr Suzanne O’Sullivan was interviewed recently on BBC Radio’s Talkback programme. Susanne, who grew up in Ireland, is a doctor working for the NHS in England. She is the author of The Age of Diagnosis — currently getting considerable attention because of the case she makes for a crisis of overdiagnosis in medicine.

Talkback’s host William Crawley did an extended interview with Dr O’Sullivan. In this age of woke, where everyone is right about their own reality, she did an excellent job staying on-message and explaining that she is not bashing patients or calling them out as malingers. Rather, she said, she is providing an insight into why this is happening and the consequences if we don’t try to halt it.

Talkback then continued the theme the next day with a panel of local experts discussing listener feedback and whether we have a problem of overdiagnosis in Northern Ireland. It was a fascinating discussion.

Dr O’Sullivan makes a simple and clear point — society is in a crisis of overdiagnosis which is absorbing resources, while leaving patients stranded in a holding position from where they have difficulty moving on. This counter- intuitive view is an important insight from someone who has first-hand experience of how medicine and our health service work. She is powerfully articulating a case that what is being done in medicine, particularly in providing diagnoses for what might be variations in the normal human experience, is clear evidence of overdiagnosis and is often not to the benefit of the patients involved.

It works like this. Once a genuine patient cohort gets defined within a diagnostic framework and is given the label of a disease, very quickly diagnostic creep pulls in less-serious, milder versions of the disease which do not necessarily fit the original diagnosis. Regardless, more patients end up diagnosed, labelled, and possibly treated, which itself brings risks. Dr O’Sullivan is a passionate and professional doctor and she cares deeply for her patients, but she is sensitive to what she feels is a movement towards the pathologising of normality through overdiagnosis.

One of the diseases she focuses on in her book is Lyme disease, which reminded me of a professional problem I encountered about 10 years ago. A fellow pharmacist working as a locum referred a patient
she knew personally to me in the hope that I might supply medicines that he had been prescribed by an American doctor. The prescription was for a 20-day supply of Pen V injections, 2g, four times daily,
IV. This was an excessive dose by any standards, but I agreed to speak with him.

The patient was an IT specialist and, in this context, travelled the world. He was also a fitness freak and when away on work, would do cross-country marathons in his spare time. About five years before our meeting, he had spent some time in the US and, on returning, he became ill. He was almost confined to bed through excessive exhaustion, joint pain, muscle weakness, and brain fog. His GP thought he had ‘yuppy flu’ and mostly likely a psychosomatic condition from long-term over-exertion, and told him to rest and take things easy.

However, this was not a man to take things easy, and soon he linked his symptoms to Lyme disease. Lyme disease is a real condition caused by a bacterium which proves difficult to culture and therefore difficult to get an exact diagnosis. It has a central characteristic of joint swelling and excessive flexibility. His GP gave him the benefit of the doubt and prescribed a two-week course of oral erythromycin, which is the UK’s recommended treatment for confirmed cases of Lyme disease.

Unfortunately, this didn’t improve his symptoms — if anything, his condition got worse. He logged onto a US website for Lyme disease sufferers, where he found a US doctor who claimed to specialise in the condition. This doctor confirmed a diagnosis of Chronic Lyme disease and charged him $500 for the consultation. She was also willing to supply him with Pen V injections provided by an online pharmacy for $2,000. He came to me knowing that the supply of Pen V vials would cost much less.

I had a long conversation with him and only agreed to supply the medicine on foot of a prescription supplied by a European colleague of his US doctor, and because he was committed to getting them off the Internet if I didn’t. I monitored him every three days of the 20 days. Six weeks later, he returned. He felt the IV course of Pen V worked very well, but now the symptoms were returning and he had another prescription. I talked him out of this.

Dr O’Sullivan in her book shows how Lyme disease, a genuine disease, can morph into Chronic Lyme disease over a number of years. All it needs is a group
of people with a range of unexplained symptoms to identify it as a variant of the original disease. These are the less-clear, less-serious cases of the condition which cannot be clearly explained, don’t strictly fit the diagnosis, and will not fully respond to the recommended treatment.

This is how overdiagnosis works and, if it works well, the new disease will eventually represent 80 per cent of all the patients who suffer from the umbrella condition. It can only work if doctors are there to support patients in their quest for answers — and she gives examples of other conditions such as ADHD and autism, for example, where there are also claims of overdiagnosis.

She’s not the first person to make this case. Ivan Illich, philosopher, doctor-baiter, and one-time Jesuit priest, was thought to be barking mad when he made this claim in The Lancet back in the 1970s. He suggested a conspiracy by the medical profession and the drug industry to bring about the “medicalisation of society” for the sole purpose of profit.

Drugs and other medical technologies, he was convinced, removed personal responsibility for suffering and created a dependence on health professionals resulting, ironically, in worse health. Doctors, with their unique body of knowledge, claim they know better than the rest of us. So, the contract is that we relinquish responsibility for our own health to them. For many, personal health becomes the GP’s problem and although patient autonomy is enshrined in our Health Service, the majority of us still look to our doctors for the answers.

Today Illich, who died in 2002, is no longer seen as just another vulgar Marxist but someone whose views, while still perhaps extreme, hold merit and might explain the lack of public health gain
and failure of national health services witnessed in recent years.

More recently, medical writers who explore this theme are less critical of doctors and more critical of wider societal changes. They rightly see patients and their families as well as the advocacy from patient bodies and politics as being equally responsible. Writers include doctor and journalist James Le Fanu, who makes the case in his book Too Many Pills, and Scottish GP Margaret McCartney, who makes a similar case and focuses on the tyranny of medical guidelines in her book The Patient Paradox: Why Sexed-up Medicine is Bad for your Health.

The Talkback programme focused on autism as another example of overdiagnosis, and it is a good local example. In Northern Ireland, we have one-in-20 children with an autism diagnosis, whereas in the rest of the UK, the rate is one-in-100. Why do we have five times more children with autism? Overdiagnosis, argues Dr O’Sullivan. Not so, was largely the Talkback panel’s response.The passionate defence of the local diagnosis of autistic children was impressive. There was an attempt by the panel to justify the North’s unique situation in the UK as being related to failure in our schools, worse levels of poverty, or even the Troubles. One obnoxious caller to the programme intimated that the increased prevalence was down to too much interbreeding. That aside, the panel resisted agreement with Dr O’Sullivan.

My patient with Chronic Lyme disease did not return after I stopped supplying him with difficult-to-support doses of Pen V, with the result that I never found out if he got relief from his symptoms or whether he is still getting or seeking expensive treatment.

Listening to the panel discussion on BBC Talkback, it’s not too difficult to see why there is a problem of overdiagnosis when it is so skilfully defended by the very people who should be calling it out. A realistic appraisal would better serve children who genuinely have autism, and the many patients with other conditions where overdiagnosis is also common, and who really do need help in a world where resources are so limited.

Which brings us back to the fundamental point of Dr O’Sullivan’s argument about the consequences of overdiagnosis in our society.

Terry Maguire owns two pharmacies in Belfast. He is an honorary senior lecturer at the School of Pharmacy, Queen’s University Belfast. His research interests include the contribution of community pharmacy to improving public health.