製造診斷的時代：醫療的命名究竟是治療的起點，還是健康的新困境？

by Suzanne O'Sullivan, 朱怡康 (Translator)

獲得一個病名，
是幫助我們變得更健康，還是變得更加脆弱？

被譽為當代最偉大腦神經醫學家──奧立佛・薩克斯真正的傳人
英國腦神經權威醫師暨惠康圖書獎得主
《腦內風暴》、《謎病睡美人》作者
～蘇珊・歐蘇利文～
探索社會醫學最新力作

　　◆《週日泰晤士報》即時暢銷書
　　◆BBC Radio 4「本週好書」選書
　　◆《泰晤士報》、《衛報》、《倫敦標準晚報》、《新政治家》、《愛爾蘭時報》2025年度最佳好書之一
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　　「《製造診斷的時代》探討了許多讓我長期困惑、難以釐清的議題，她以優雅、深情且極富見地的筆觸，俐落切開那些讓我在為人父母與臨床工作間掙扎的矛盾與混亂。這本書既有學術深度，也有溫暖人心的力量，是從頭到尾都令人著迷的閱讀體驗。能夠這麼清楚地陳述，又同時充滿同理心的作家，寥寥無幾。我對這本書的讚賞實在難以言盡。」
　　——克里斯・范・圖勒肯（Chris van Tulleken），暢銷科普作家、牛津醫學博士

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　　如今，我們正處於一個「過度製造診斷」的時代。

　　先進的基因定序技術，已能為我們在發病數十年前，甚至出生前，就偵測出疾病風險；越加頻繁多樣的篩檢，讓越來越多人相信「自己就是病人」；網路的大量資訊，使得自行推測病因變得更加容易；還有注意力不足過動症（ADHD）與自閉症的診斷人數正在迅速上升，「長新冠」等新型診斷類別則是由患者社群推動而成……

　　診斷就像一個明確的標籤，有助於理解病情，並帶來對應的治療與資源，所以遭遇病痛時，尋求診斷是再自然不過的反應。然而，英國神經科專家歐蘇利文發現，現今被貼上醫療標籤的人數，比以往任何時候都要多，許多診斷遠不如我們以為的明確，甚至讓本來健康的人誤以為自己生病了。

　　為了探討這個現象，曾獲「惠康圖書獎」殊榮的歐蘇利文再次執筆，以醫者身分探訪了自閉症、癌症基因、ADHD、亨丁頓舞蹈症、萊姆病等病患與家屬，記錄下許多動人的真實故事，以及人們在面臨「獲得診斷」與「無法知曉病因」等複雜問題的掙扎苦痛，也以人文視角直視診斷過度的現象，提出許多充滿醫者仁心又發人深省的詰問。

　　歐蘇利文向來擅長將臨床實務與人性故事並陳，她在本書不僅展現深埋於醫療行為之後的情感與議題，也帶領讀者開始思索，當診斷開始變得無所不包，我們該如何應對健康與疾病之間那條正在重新定義的界線。

　　「診斷既是藝術，也是科學，而或許會令某些人驚訝的是，藝術在先……
　　建立新診斷同樣既是科學，也是藝術，但和診斷不一樣的是，科學必須在先。」──蘇珊・歐蘇利文

Genres: Nonfiction, Science, Psychology, Medicine, Health, Medical, Audiobook

304 pages, Paperback

First published March 18, 2025

About the author

Suzanne O'Sullivan is an Irish neurologist working in Britain who is the winner of the 2016 Wellcome Book Prize. She won for her first book, It's All in Your Head: True Stories of Imaginary Illness, published by Chatto & Windus in 2015. The book also won the Royal Society of Biology General Book Prize.

Reviews

[Nataliya · Rating 4 out of 5]

We as a society can place really disproportionate weight on the significance of diagnosis, the overreliance on all the fancy shiny diagnostic tools as well as expanding the diagnostic criteria so that more and more people fall under the umbrella of this or that diagnosis. What we are looking for is of course the certainty of the answer. But is it always what’s actually helpful?

And the diagnoses multiply. Does that mean we are actually sicker and only now finding the ways to describe it? Or is there a fair share of “diagnosis creep” and pathologizing of mild variations of normal? And are we medicalizing issues that are more social and societal as well as expecting unrealistic “perfect” health while anything other than it perceived as illness rather just a variance of normal? Is more necessarily better when it comes to diagnoses?

“It could be that borderline medical problems are becoming ironclad diagnoses and that normal differences are being pathologised. These statistics could indicate that ordinary life experiences, bodily imperfections, sadness and social anxiety are being subsumed into the category of medical disorder. In other words: we are not getting sicker—we are attributing more to sickness.”

But what is the point of assigning diagnoses? Is it for the purpose of treatment, in which case bad news for conditions that still do not have that as an option. Is it for the benefit of validation, proof that the symptoms have a real medical cause? Is it to allow the patients to tap into the necessary resources not available until the insurers see the magical diagnosis that makes paying for interventions justified?

Suzanne O’Sullivan, a British neurologist, looks at the ever-expanding diagnosis barrage with a critical eye. Whether one agrees with her on everything or not, I don’t think it’s possible to leave her book without at least some questions and a list of things to really think about.

One of the issues she ponders is whether the expansion of diagnostic criteria to include more and more people under the umbrella of a disease — therefore bringing in people with much milder forms to the point where the disease sufferer no longer fits the original criteria — dilutes the disease, therefore impacting the resources available and studies necessary to benefit those impacted the hardest, those with the most severe forms. O’Sullivan questions whether that benefits the people who are now have the diagnosis; does their quality of life improve; do the accommodations made actually create a long-term difference or just a sense of dependence on them? And yet she admits that even in the cases where to her there’s no measurable improvement in her opinion, people may still be happier just due to the validation of actually having a diagnosis and an explanation for the symptoms.

“I saw a worrying gap between the perceived benefit of being diagnosed and any actual improvements in quality of life.”

Another thing that concerns her is the idea of incorporating diagnosis into a person’s identity, especially when it happens in childhood when the self of self is still forming. And especially when it can be argued that the diagnoses given are pathologizing what may be just a variance of normal.

Predictive genetic testing also gets the spotlight. Are we better off knowing our possible future risks or can this be a source of anxiety and psychosomatic galore of issues even in the situations where it’s not definite that the dreaded disease would occur? What do you do with advance knowledge that an incurable severe disease like Huntington’s is in your future? Are we wasting the present by dwelling on anxieties about certain or uncertain future? Is it better to know or to hope? Do people sometimes just need permission NOT to test, NOT to know? And of course, there’s never one correct answer, and O’Sullivan gives empathetic consideration to both approaches.

And the most interesting part for me was actually how the diagnosis was made. O’Sullivan argues that no matter which fancy tools you have at your disposal, nothing can replace clinician’s judgment. The tests need to be interpreted in the light of the patient’s story, the clinical presentation. As tempting as it is to think that a blood test, a genetic test or a fancy MRI would give the most precise diagnosis, they also give you a lot of “noise”, a lot of information of dubious significance that we don’t know what to do with. There will be many “incidentalomas” — finings in tests that may or may not be contributing to any disease or pathology — that we don’t know what to do with and that are prone to cause needless anxiety. For instance, if a child presents with something different from the norm, gets a genetic test in hope that something pops up to explain what happening, and something if uncertain significance pops up, what do we do? Do we assume that an unclear finding is a culprit? And what if there’s no help available? What’s the point then?

“An expectation of constant good health, success and a smooth transition through life is met by disappointment when it doesn’t work out that way. Medical explanations have become the sticking plaster we use to help us manage that disappointment.”

This book can end up seeming contentious and polarizing and infuriating to those who may feel that O’Sullivan tries to invalidate their conditions and diagnoses. But she is not dismissive or flippant. Rather, she argues against bad science and overreliance on things we use but do not fully understand. She doesn’t fall into the seductive trap of offering simple answers and understands that there are several sides to most issues.

And although I don’t always agree with her, I appreciate that she made me think and reconsider some well-ingrained assumptions and misconceptions. Love it or hate it, this book will make you think.

4 stars.

[Jill Rattray · Rating 1 out of 5]

Thanks to NetGalley for an advanced reader copy.

I wrote and rewrote this review, unsure of exactly how to phrase how angry I am about what I read and the harm it will do.

This book could cost people their lives, that’s not hyperbole, these diagnoses can be life saving for many people.

There are six chapters on different diagnoses, Huntington's Cancer Gene, ADHD, Depression And Neurodiversity, and Syndrome without a Name.

It's a bizarre collection, chronic illnesses, developmental disabilities, genetic disorders, cancer and conditions that are not diagnosis in the first place. Neither Neurodiversity nor Syndrome Without a Name are diagnoses, so I’m baffled as to why there in here.

The one thing many of these conditions have in common is they are not diagnosed by a blood test or scan but by asking questions and making a judgement call. O'Sullivan seems to believe this makes these diagnoses inherently unreliable, but this kind of diagnosis does require a level of competence and compassion that appears beyond Dr'O Sullivan.

She seems to have some bizarre ideas about how diagnosis works. She is under the impression that if you don't diagnose illnesses and disabilities they will just go away, that people will recover, which is so mind-numbingly baffling I don't understand how she got a medical degree!

She seems to think life with a diagnosis, and therefore one of the 16 million disabled people in the UK, cannot be as fulfilling as not having a diagnosis and therefore not being a disabled person. Honestly this suggests an issue with Dr O’Sullivan’s lack of imagination that with anyone receiving a diagnosis.

For most of the conditions in the book I can’t speak to what it’s like to be diagnosed with any of these conditions. I can when it comes to autism and ADHD. I also know what it’s like to not be diagnosed for several decades and I wouldn’t wish it on my worst enemy. I wouldn’t even wish it on Dr O’Sullivan.

Dr O’Sullivan’s grasp on what it’s like to have either of these conditions is slight. She appears not to understand that the spectrum does not run from mild to severe. Her examples for ‘mild’ autism are wild: Bill Gates, Elon Musk, Anthony Hopkins, and Robbie Williams.

Ah yes, I’m sure the average neurodivergent adult in the UK lives just like they do. That’s feasible on Universal Credit! (The unemployment and poverty rates for both autism and ADHD are much higher than the general population, universal credit will be a reality for most).

The thing that came across in these chapters is she has no understanding of what it feels like to not understand how your brain works and that when you don’t understand that you try and make your brain work like everyone else’s or you try and pretend you do, this absolutely takes a toll.

But we live in a society where autism and ADHD have gone undiagnosed for decades in millions of people, there are many studies looking at the effects of late diagnosis. These have found not being diagnosed with autism and/or ADHD until adulthood can contribute to academic under achievement and educational problems, increased prevelance of anxiety and depression, higher rates offending behaviour and imprisonment, divorce, driving accidents, unemployment, suicidal thoughts and behaviours and other mental health issues, difficulties at work, substance abuse, increased medical incidents and injuries, chaotic home life, increased psychiatric conditions, social problems, increased vulnerability to sexual abuse in women, and chronic pain.

The thing this book doesn’t explain is what kind of doctor, even what kind of person thinks taking action so that these litany of issues don’t happen or are less severe, is a bad thing?

[Stephen the Bookworm · Rating 4 out of 5]

"Let's leave diagnosis for those who are unequivocally sick and find a way to be more tolerant of difference and imperfections that still allows people to live an unencumbered life." argues Suzanne O'Sullivan

Suzanne O'Sullivan has written an incredibly important book that is truly needed at this point in time. This is a book that questions society's need to label every individual who feels that their life and feelings and health don't fit a perceived norm. Everyone is demanding perfection of themselves.

The argument is clearly made that with so many being diagnosed of diseases/"disorders', it does not always lead to substantial improvements in longterm health.

Redrawing boundaries and redefining symptoms between sickness and health is impacting greatly on society.

Suzanne O'Sullivan draws our attention to the need for greater balance in diagnosis and treatment and how predictive medicine can advise people of potential health problems which may never occur or take many years to show but in the meantime lead to years of fear and waiting for symptoms. The book identifies that diagnoses have the power to create illness when there is no disease.

The book explores range of conditions; ADHD , autism, Long Covid, Huntingdon's disease.

Anecdotal stories from individuals explore the impact positive and negative of diagnosis. With the rise of genetic testing, she expresses concerns but also acknowledges benefits. But it is the lack of definitive evidence and stretching the borders of diagnosis that are truly put into the spotlight to make us question the broader individual and societal impact.

Suzanne O'Sullivan writes with compassion and challenge and ultimately wants the best care for all in society .

This is a powerful book- one you will need to talk about and reflect upon especially if you have family members with certain diagnosed conditions. This is a book that isn't against diagnosis but questions how diagnosis is made; the science and research behind the ever changing supposed symptoms /evidence which define a condition; how does society actually support the broader community after a diagnosis( if at all) ; the impact on individuals who are suffering extreme and hard symptoms of a condition and how the broadening of diagnoses is leading to diluting of funding and support for them; and the broad impaction lives by defining individuals with a "label "

Highly readable - a book that opens the door to a wider debate and challenges us to question all we may be told and the impact on ourselves and loved one.
This book will be put alongside Ultra Processed People as a must read of 2025

The final points that this book is written before the impact of AI on medicine and health care in the future certainly left me with an undercurrent of concern if diagnoses could be made via computer data, algorithms etc

[JK · Rating 1 out of 5]

While the book raises interesting questions about diagnosis, its handling of long Covid and related conditions is a case of a specialist speaking outside of their field and risks doing real harm when we are still searching for answers. Beware anyone who claims they have these answers and cherry picks their evidence to give a false impression of certainty. Dr O'Sullivan claims that the majority of Long Covid patients have a psychosomatic disorder, and as things stand there's a great deal of research out there that contradicts these claims.

[Sadhbh O'Sullivan · Rating 5 out of 5]

4.5 rounded up. These are such contentious topics but what I enjoyed was how empathetically this was written. The purpose is not to deny that people are suffering but to question whether diagnoses, especially when the act of diagnosis is so subjective, will really help people. The question of how you define ‘help’ is also talked about here which I appreciated.

The most interesting stuff for me was the preventative medicine aspects - trying to pre diagnose cancers and dementias seems like an obvious good thing. But she makes a compelling argument that we over diagnose disease for which there is biological evidence in our bid to anticipate it. The genetic sequencing stuff? Fascinating.

[Rebecca · Rating 3 out of 5]

Mixed feelings about this one. On the one hand, I agree with her that we might be overmedicalizing what are essentially varieties of being human (not everyone is 'on the spectrum' or 'a little OCD'). And it's valuable to ask whether early diagnosis of a genetic disease is helpful for everyone, especially in cases where there's not much that can be done to combat it, such as in Huntington's Disease, the subject of her first chapter. It's a personal choice whether to pursue a diagnosis: I know I would but my husband would not. (I happened to be diagnosed with a genetic kidney disease at age 30. It wasn't a surprise because it runs with my family, and it was useful knowledge to have when making reproductive decisions.)

On the other hand, she goes further than I would towards discouraging diagnosis. For instance, she questions whether knowing you have the BRCA gene is a good thing, if it means some women are undergoing unnecessary surgeries for a potential cancer that might not develop or progress. Her argument is that just because technology has advanced to the point that we can screen for such things doesn't mean that we should. Elsewhere, she reveals the issues with Lyme disease, which has an 85% misdiagnosis rate, and so-called long Covid, which we still know very little about and is basically a matter of self-diagnosis.

O'Sullivan is also dubious about the worth of adult ADHD or autism diagnoses. Having seen Robin Ince speak on this subject recently (he rebutted this book directly), I appreciate that having such a diagnosis can be life-changing. O'Sullivan does acknowledge that a diagnosis can make people feel seen or listened to and thus they may perceive that they are better off because of it. Her point, though, is that there is not necessarily treatment that will make a measurable difference to their daily life. But Ince argued that a diagnosis is not a label, but a road map. It also allows for solidarity and understanding. (My late stepfather was likely autistic, and I think knowing that could have helped him in his life and relationships, including with my mother.)

In closing she discusses the extreme case of a young woman who has 10 different diagnoses, sometimes two to describe the same symptom (e.g. POTS + Ehlers-Danlos). Think how much of her time and mental energy must be given over to medical appointments, treatment, research, etc.

This is very readable, though there is some repetition and often a somewhat defensive attitude; I ended up skimming quite a bit, mostly because of an upcoming library deadline. As with It's All in Your Head, she knows she's touching on controversial matters about which people will have passionate preconceived opinions. I do believe that O'Sullivan is motivated by compassion here as well as by common sense; it's not all about cutting costs for the NHS. I think I would take a more moderate approach overall. But this book will certainly get people talking, and that's a good thing.

[Emma Deplores Goodreads Censorship · Rating 4 out of 5]

3.5 stars

A provocative book on a fascinating and important topic: can our mania for diagnosis at times do more harm than good? Dr. O’Sullivan, a British neurologist specializing in epilepsy and psychosomatic disorders, argues yes. People can unconsciously begin to manifest symptoms with no physiological cause through the power of suggestion (the opposite of the placebo effect), or through hyperawareness and anxiety about normal bodily changes. People who take on an “illness identity”—their illness becomes their identity—are medically worse off, even when it comes to physical illnesses that can be objectively measured (people with heart problems of equal severity do worse when they identify as heart patients. Adopting a “recovery identity” can counteract this).

These two factors intertwine when someone who tends to manifest distress through physical symptoms picks up and identifies with a panoply of diagnoses, none of which have any known pathology, leading to a lot of people with the same laundry list of ostensibly unrelated conditions that only seem to cluster at the milder end of the spectrum, including autism, ADHD, hypermobile Ehlers-Danlos syndrome (basically, joint hypermobility—the one version of EDS with no objective changes to connective tissue), POTS (people who faint when they stand up, which can be fear-conditioned), and more.

Meanwhile, the author questions the medical establishment’s push toward more screenings without testing whether the screening regimen leads to better health outcomes. For instance, large numbers of people have slow-growing, asymptomatic cancers that will never be a problem: one autopsy study found that of men who died from things other than prostate cancer, 45% of those in their 50s and almost 70% of those in their 60s had an early form of it—this despite the fact the lifetime risk of problematic prostate cancer is just 13%. So too much screening can lead to lots of unnecessary and at times risky treatment, as well as lots of distress from patients. (Would you want to know? The chapter on Huntington’s disease—an incurable degenerative condition which you have a 50% chance of having if a parent does—suggests we might not, actually. Although those people choosing not to protect their future children are the worst.)

On the mental health side, O’Sullivan questions the broadening of categories (“diagnosis creep”), often led by specialists with much to gain from doing so. The trouble with mental health conditions is that they rarely have a known physical cause (when one is discovered, they get reclassified as physical illnesses), and are on a spectrum with normality—where “normal” ends and autism, ADHD, or depression begins is a judgment call and a question of medical politics rather than an objective yes or no. Broadening the categories leads to more and more people being diagnosed with milder and milder issues, potentially overshadowing the people with the severest versions, for whom the label was originally created. And classifying these problems as illnesses rather than responses to one’s environment causes us to look to medicine for solutions instead of making life changes or seeking social change.

I do think the book is thoughtful and compassionate. O’Sullivan does not think people are malingering or (for the most part) that the diagnoses themselves are invalid, so much as being applied to too many people. She acknowledges the benefits people get from having answers and meeting others with the same diagnosis. She talks to people affected by all the conditions discussed in the book, and everyone who sought out a diagnosis is glad to have it, even when by traditional measures their lives may seem worse (leaving work, for instance). But I think it is also evidence of a humane approach to point out that everyone is different, our bodies are imperfect, our life experiences can affect our health, and we don’t need to pathologize all of that. In the end, medicine should be helping people live better lives, not more medicalized ones.

That said, I do think the book could be better-written: the style can be choppy and lacking in commas. And at times it could be better-sourced: O’Sullivan has certainly done research, but sometimes provides just anecdotes or speculation where I wanted to see a study. For instance, when the mother and caregiver of a young man with severe autism complains that people with mild autism leading functional, independent lives are taking away resources from the developmentally disabled, is this actually true? Or does the rash of people being diagnosed with mild autism mean attention and resources never previously given to those with autism at all are now being directed to the milder group? Also, the author would have done well to spend more time with the flip side of the horror story—people with real, treatable illnesses who are dismissed by their doctors—and exploring how to avoid overdiagnosis without withholding care from those who need it.

Overall though, I think this very much worth the read. You may not agree with everything, but I do think it’s important to have countervailing voices in our rush to assign diagnoses to more and more people. Certainly interesting food for thought.

[cab · Rating 1 out of 5]

the fact is, insurance only cover treatment if you have a diagnosis, which is a well-noted issue within the field of psychiatry and the context behind the DSM being so all-inclusive.

I feel like o'sullivan's failure to substantially engage with this core economic fact undergirding the whole medical system is disingenuous. o'sullivan is also vastly overstating the harm of so-called "overdiagnosis", which she defines as "a diagnosis that is correct but which does not benefit the patient and may arguably do harm. Overdiagnosis occurs when a medical problem is detected at a stage when medical treatment is not really required." (Introduction) and the whole time I just found myself thinking,

who cares? does the patient not have a right to know/ a right to self-determine what to do with that information? why is o'sullivan so patronising and paternalistic and so bent on getting mad at imaginary patients in her head who are handling their diagnosis "wrong" in a way that she does not personally approve of?

o'sullivan also has a real thing against people who congregate in certain online neurodivergent communities and blames the phenomenon of overdiagnosis for encouraging this. putting aside how weird it is for her to care, I have to say - you don't need a diagnosis to join those communities, and a lot of people who are in those communities likely neither have nor seek formal diagnoses because they too, like o'sullivan, are aware that a medical diagnosis can do nothing for them, so it isn't the "gotcha" against diagnosing what she terms milder cases of ADHD/autism she presents it to be. time and time again, i just want to know - who cares?

o'sullivan is so concerned about the handful of people who've - in her opinion- wrecked their lives because of a diagnosis (the kicker is: almost none of the people interviewed are convinced or concerned that they've been overdiagnosed - this is a reading o'sullivan imposes on her interviewees, most of who seem perfectly happy). but I have to say - I don't think anyone is living their lives by o'sullivan's standards. people get diagnosed or screened or voluntarily sign up for invasive treatments for any number of reason, none of which have to be legible to o'sullivan.

[Literary Ames · Rating 1 out of 5]

The Age of Diagnosis is the most excruciatingly painful and dangerous non-fiction book I’ve ever read. There are genuinely moments I could feel the inner screams of GPs and psychiatrists everywhere at O’Sullivan’s assertions. There is no duty of care in this book, so IF YOU’RE VULNERABLE, PLEASE DON’T READ IT. It’s a book severely weakened by the bias, ignorance, and a lack of respect for the patient experience by the author on the topics of long Covid, autism, ADHD, depression, and neurodiversity.

On the surface, the central premise is generally seen as true. Diagnoses of severe forms of certain illnesses are holding steady while mild to moderate diagnoses are rapidly rising. However, O'Sullivan's analysis of why is limited, at times repetitive, reductive, and dismissive of a patient's lived experience, and therefore it feels like it lacks compassion and empathy by placing blame on the patient for overdiagnosis and over medicalisation without also looking at the larger picture.

First off, there are some questionable editing decisions concerning chapter structure. These are the chapter names.
➡ Huntington’s Disease
➡ Lyme Disease and Long Covid
➡ Autism
➡ The Cancer Gene
➡ ADHD, Depression and Neurodiversity
➡ Syndrome Without a Name

There’s no reason why Lyme Disease and Long Covid should share a chapter as it’s split in half to detail each one with only a tenuous connection: they both have patients claiming they suffer from them without any proof, so says the author. A fatal error is made here. O’Sullivan makes no mention of the lack of tests at the beginning of the pandemic, at a time when hundreds of thousands of people had Covid-19 in the UK alone. Is she saying that those who caught it early couldn’t possibly have had Covid simply because they didn’t have a test to take? That they couldn’t possibly have developed Long Covid?

I have lost some respect for Dr. Chris Van Tulleken, whose praise for the book is on the front cover. His identical twin brother, who is also a medical doctor, suffered long Covid and an irregular heartbeat, which almost killed him on several occasions. Did Dr. Chris even read this book?

There should’ve been a chapter on depression and anxiety, and another for autism, ADHD and neurodiversity, which would’ve made this easier to read.

O’Sullivan’s take on autism was a slog to get through. She uses textbook explanations to describe it as a spectrum disorder and then proceeds to refer to it on a scale of mild to severe. She genuinely seems to be surprised to learn non-verbal autistic people can be intelligent. An excellent BBC documentary by Chris Packham called Inside Our Minds showed how autism manifests in people, in ways one might not expect. It’s still available on iPlayer. There are also claims that you can better from autism. I re-read that several times. I can't make it make sense. Perhaps she's referring to her version of mild autism, which in her mind doesn't exist?

As O’Sullivan is a neurologist, one would expect her to look at her own profession for autistic traits. After all, the NHS seems to be aware of this and has provided neurologists with nurses for clinic appointments to smooth along friction with patients since 2019. Henry Marsh, a famous British neurosurgeon and author, has described the selfishness, obsession and arrogance required in this area of medicine to the exclusion of everything else, and how this can negatively impact patients. I’ve met a few neurologists – social skills are lacking compared to other doctors.

The ‘ADHD, Depression and Neurodiversity’ chapter was a shitshow. I can’t sugarcoat it. More than once, O’Sullivan is adamant that depression is a neurodivergent condition. It is not. I’ve googled it and I’ve asked AI chatbots, just in case I was wrong. I could find no medical or psychiatric institution who backs this, only some similar suggestions on platforms like Reddit. Not exactly a reliable and trusted source. How can I rely on what’s written here as factual when some of her facts are demonstrably false?

When describing the help available in schools for those with ADHD and autism, O’Sullivan states that the adjustments such as extra time in exams don’t lead to better grades. I was shocked that she hadn’t taken into consideration that this assistance may be reducing distress in students and may make schooling less of a traumatic and punishing experience. Kindness and consideration is sometimes more important than quantitative results.

Antidepressants don’t work and ‘improvement may be through the placebo effect.’ Now, O’Sullivan regularly makes crazy assertions like that only to row back slightly over the next few pages. It’s like clickbait. It’s an infuriating way to read a book, but not only that, it’s dangerous. Where’s the part where O’Sullivan’s telling patients to speak to their doctors if they want to stop taking their medication? This is the usual disclaimer given to protect both patients and authors when you read something like this. There is no duty of care in this book. GPs and psychiatrists would not thank her for her lack of concern for the impact of her words on readers. O’Sullivan is stumbling around in the dark on subjects she knows little about, and at one point, states she’s discovered the cure for depression, only to describe something that sounds exactly like Cognitive Behavioural Therapy (CBT). What quackery is this?

Frequently these clickbait assertions feel like personal opinions. Two- or three-times patients describing their personal experiences to O’Sullivan are telling her she’s wrong – her response is to ignore them rather than adjust her thinking or re-evaluate her arguments. I don’t see any listening, understanding or personal growth from the author. In the early chapters, O’Sullivan takes great pains to explain that she listens to her patients to make them feel heard, but in the following pages she repeatedly fails to do so. She seriously lacks self-awareness. Her attitude towards ethical decisions are concerning as she advocates not telling patients everything about their health if science doesn’t yet understand the significance of a test result. This is a red flag for me. Patients aren’t idiots. They have a right to know everything about their health. Explain it to them.

O’Sullivan also fails to look to wider societal change over time when looking at the reasons behind increased diagnoses. People once accepted difference and illness believing nothing could be done. Now, with TV and the internet, we are better informed and medical knowledge can identify and treat them. Families are more fractured, there’s more divorce, and people are more likely to lack a support network. There are no jobs for life anymore. We used to have council housing and higher home ownership rates, now most are in insecure and expensive housing, which could see them regularly having to move house, meaning they could be moving away from friends and family to afford their rent. And while social media is mentioned, it’s not a subject that is given enough scrutiny. This year has seen the first conviction in the UK for inciting someone to self-harm and kill themselves online. AI isn’t mentioned at all, which is surprising. Some use AI chatbots like a friend or therapist, seeking advice, which obviously they are not qualified to do. But with the overstretched health service and restricted access to healthcare, AI has become the new Google search for symptoms.

O’Sullivan suggests patients are desperate for labels, a diagnosis, to explain and legitimise their symptoms, but she also fails to recognise that society demands them. Institutions demand these labels. When applying for a job, you're often asked if you have a disability and to name it. The NHS demands these labels. When you need an op or an MRI, you're asked about these labels and they sometimes don't care if you've been formally diagnosed, they still want to know. If you're applying for disability benefits, you need these labels on order to get them. If you're still in the process of being diagnosed then it’s much harder to qualify.

Psychosomatic illnesses seem to be an underlying obsession. Any potential illness or disorder which cannot be proved or disproved with a quantitative scan or test, could be a figment of one’s imagination, according to O’Sullivan, despite her own admittance that tests are not infallible.

Very few professionals are mentioned herein, yet the acknowledgements claim O’Sullivan’s been in contact with dozens of people. I was looking forward to hearing from teachers, nurseries, GPs, psychiatrists, etc. However, I can see little or no influence of these types in this book. Maybe three experts are named yet they contribute little of value. How can I trust what is written when so few experts or witnesses are openly consulted? The selective use of studies and statistics is sometimes questionable as they don’t always seem like they’re telling the whole story and are being used out of context.

While I’ve been mostly negative, some of the chapters do make good points. The Huntington’s Disease chapter is by far the best and most compelling of the book. The financial implications of taking a HD DNA test are horrifying. I’ve come across most of what was discussed in ‘The Cancer Gene’ chapter in Hannah Fry’s great BBC documentary Making Sense of Cancer. Lyme Disease and Syndrome Without A Name also put forward interesting arguments.

Celebrities constantly highlight the issue of overdiagnosis when they seemingly get themselves diagnosed to excuse bad behaviour, making certain conditions seem almost fashionable, and a rise in people using their conditions to explain their identities does put the spotlight on milder forms of conditions. However, O’Sullivan fails to address the fact that milder forms aren’t necessarily distress-free.

O’Sullivan wants to people to focus on what they can do rather than what they can't. She doesn't want people to be defined by their illnesses. On the one hand, this is understandable, on the other, it’s been used against the disabled by the UK government. It’s become a toxic rhetoric of the DWP administering disability benefits, to focus on what the disabled can do, encouraging them to work when they either can't or there isn't enough support for employers to hire disabled workers.

A ‘recovery identity,’ O’Sullivan suggests, needs more emphasis, but that can be damaging. A relative was constantly being told she could recover from severe mental illness. She came off her medication multiple times and tried to get jobs and do normal things people do. This led to many a crisis, and finally I had to have a row with the social worker to stop saying recovery was possible. Accepting the conditions and learning to live with and cope with them was a healthier and kinder approach in this instance. Assessing what is possible and what is best for the patient is important.

Severe depression isn’t mentioned. Many with chronic illnesses develop depression. In fact, there are new theories being investigated. Chronic inflammation is thought to have an impact on many illnesses including depression and Alzheimer’s, among others. Weight loss injections like Ozempic and Mounjaro are thought to reduce this inflammation. No mention of this here.

Overdiagnosis isn't the only problem, underdiagnosis and misdiagnosis are problematic as well. While these are mentioned, the causes of them are only vaguely covered. Intuitional decay of the NHS due to chronic underfunding means it's short-staffed and can ill afford the time required for medical professionals to familiarise themselves with patients and accurately assess how they can be helped. In recent news, it was found that hospitals and GPs are being incentivised not to refer or treat patients. Prioritising the arbitrary reduction of waiting lists rather than helping patients while simultaneously planning to only recognise NHS diagnoses when the chronically ill apply for disability benefits. Going private lessens the burden on the NHS, and penalising people for doing so is unfair especially as many NHS doctors do private work and often refer private patients back to themselves in the NHS. O’Sullivan seems to suggest moonlighting NHS doctors are corrupt, that by taking payment they’ll say whatever the patient wants them to say. You see examples of this in the USA, but I’m not sure it’s as prevalent here as O’Sullivan would like to believe.

This is the most frustrating non-fiction book I've ever read. It's poorly structured both in terms of chapters and arguments. A list of controversial assertions are made, then several pages later, some analysis and criticism takes place. By that time, I'm angry thinking this author hasn't got a clue. However, sometimes the ridiculous assertions remain without criticism. O’Sullivan doesn’t fully explore her thesis, or analyse or criticise it properly without bias. The lack of duty of care for vulnerable readers and her willingness to withhold information from patients is shocking. Her ignorance of some of the conditions she discusses and the dismissal of patient experiences, and her eagerness to believe an illness is psychosomatic, is very concerning. Again, IF YOU’RE VULNERABLE, PLEASE DON’T READ THIS.

[Keely · Rating 3 out of 5]

This is a very complicated subject with many nuances. This isn't a true review, more of bunch of a meandering thoughts.

I agree with some of it, some things I'm not so sure about. Like finding and treating cancer that was found so early, the body probably would've taken care of it by itself and thus the harrowing surgeries and chemo wasn't quite needed. I know that has happened, as I've read it in mutiple books and papers. Other bits I wasn't quite sure about. But I know I need to further research. I wish the book was longer as I feel this subject could easily be 500 pages, especially once you get into the nitty gritty and all the nuances.

It gives you a lot to think about. Personally as someone with a disease that causes chronic pain, I know my issues get worse the more I focus on them. I often see my constant pain as a radio that I am trying to tune out, I don't always succeed, especially on the horrible days, but distraction is my best friend and number one tip. With some sharp agonising pain, distraction won't work, but the pain you that constantly there, the everyday ache, the deep bones feel like concrete and every movement is a struggle ache, distraction can work occasionally. I need to not focus on the pain all the time to keep my sanity, if I didn't, it would just be a loop of ow, ow, pain, pain, i hurt, ow, painnnn constantly. It's why I struggle with sleep as my brain tunes back into all the pain when I'm trying to evoke being unconscious, thus I am never comfy, but pain meds and CBD help. I also have a sleep trigger story that I made up that I only think about before I sleep. My brain knows that thinking of that story means it's time to sleep. I also love audiobooks and random youtube video essays as a distraction tool. But anyway, the more I focus on my health, every twinge of pain, the random pains, the dull constant ache etc the worst I feel physically. I watch people focus on every slight tinge spiraling due to health anxiety, panic if they have a random belly ache, take their temperature mutiple times a day, every twinge of pain is a sign of serious issue etc and I know if I was to do that, I wouldn't be able to get out of bed, I know it's going to hurt and it's a lot of effort to get out of bed, but I have to get out. I watch people have a random twinge and to them it's obviously a symptom of something serious and it needs investigating when sometimes, the body just has random twinges! No one has perfect health 24/7. It's hard to watch people spiral like that. I also do not want those pain neuro pathways getting any stronger. I can't give the pain the attention it wants because if I do, it'll be all I think about.

And I do understand that the people who have online pages about their diagnosis are only a small part of the diagnosis. Like people with level 3 autism aren't making tik toks of their own volition, therefore can easily be forgotten or ignored, as some may not be able to speak about their own needs. So we only usually see that through parents eyes and that's...not great as no consent. So who we see as faces or advocates of an issue are only a small part of it but people can often see them as the professional champions of the issue. I know it's very easy to take the label of whatever you have and make it one of your core identities. And avoid anything challenging, scary or anything that might cause pain. You wait for that day when you feel full of energy and have low pain, but that day may never come. Chronic illness can make your world very small and it's very hard to expand once that has happened. Deconditioning happens very easily and it is a bitch to undo, sometimes you never get back to before deconditioning even when things have calmed down. Some changes are permanent when they didn't need to be. When you do have a diagnosis, some doors do get opened, but quite a few do get closed.

The brain is so powerful. It can completely warp your perception. There are many things we don't understand about it. So many unanswered questions. Mental health is intrinsically woven with physical health. Trauma can make you physically ill. The brain can create physical illnesses. I can understand why people need diagnosis, a lot of us have this innate desire to understand ourselves, and when you struggle with things that others find easy, it's very easy to think there is some defective about yourself and beat yourself up. Having a diagnosis can lead to understanding yourself and having empathy for yourself. But it can also leave you very boxed in. I know a lot of people can downslide once a diagnosis is given.

I found the chapter about Huntington's disease chapter really interesting. It was really interesting that the therapist says that she helps them to see that not testing is just as valid.

But yeah, it's all so complicated.

[tomoe · Rating 5 out of 5]

bardzo dobre i dające do myślenia. trochę wywrócenie do góry nogami naszego postrzegania potrzeby diagnozy, prawa do informacji (każdej informacji) i wiary w nowe technologie. zapominamy, że lekarze to nie cudotwórcy, że nie każdą chorobę można wyleczyć a czasu nie można cofnąć. zapominamy o efekcie nocebo. wierzę, że dla niektórych książka zbyt rewolucyjna i idąca za daleko, ale może właśnie o to chodzi: może niekiedy trzeba głośno, z przesadą zawołać STOP, aby ktokolwiek w codziennym szumie usłyszał.

[Gijs Limonard · Rating 4 out of 5]

5 stars for educational intent, 3 stars for style and substance; the message is eminently worth sharing; in particular over-diagnosis (or diagnosis creep) can wreak havoc; medicine can indeed be co-opted into a personal or corporate weapon; on the topic of iatrogenesis be sure to check out the classic Limits to Medicine: Medical Nemesis: The Expropriation of Health, Bad Medicine: Doctors Doing Harm Since Hippocrates and for psychiatry: Bad Therapy: Why the Kids Aren't Growing Up.

[Emily Farrell · Rating 3 out of 5]

I have a lot of mixed feelings about this book.

I read it because I thoroughly enjoyed her book “it’s all in your head” because I think she managed to discuss psychosomatic symptoms and functional disorders with an incredible amount of tact and was able to explain them in a way that didn’t feel dismissive towards the people suffering with functional disorders and symptoms. I did not get the same vibe from this book.

I agreed with some of the underlying principles Suzanne O’Sullivan mentions particularly in her conclusion about having a wider understanding of ‘normal’ to avoid over-medicalising normal phenomena, and how sometimes watchful waiting is the best approach to certain health complaints.

I did find it interesting that numbers of severe cases of neuro developmental disorders (particularly autism and ADHD) are stable while the mild and moderate cases are increasing. I don’t think it’s necessarily a bad idea for more people to have an understanding of themselves. The solution should be an acceptance of variance, and not having these diagnoses seen as life limiting, or affecting people’s expectations of themselves and their life goals.

What I disagreed with wholeheartedly was the paternalistic conversation around doctors withholding information and diagnoses “if it offers the patient no benefit”. She also talks about people with autism and ADHD so severe that it’s undeniable being the only people who should get a diagnosis - it’s a little head in the sand for me. Undeniable to who exactly? And why should the doctor decide if it would be of benefit? They can’t look into a crystal ball. Even if there is no treatment, Suzanne O’Sullivan clearly views any sense of self acceptance and understanding, or finding a sense of community as “less than” benefits to something being treatable with medication.

Additionally she doesn’t seem to acknowledge the possibility that expanding diagnosis definitions over time as we learn more could be a good thing? In general in science and medicine a deeper and wider knowledge is a good thing; and there wasn’t much consideration that the first people to describe autism and ADHD may have only seen part of the puzzle, and with more knowledge and experience, we realise there are more people who need to be included.

I also think she did not handle some diagnoses with much tact - she essentially said POTS, H-EDS, long covid and chronic Lyme disease are fake. I think she made some compelling arguments about how there are seemingly disparate clusters of symptoms that were put together and how the labels/diagnostics aren’t fit for purpose. She acknowledged these people are suffering, but if I had any of those diagnoses, oof, I’d be fuming after reading this book.

Overall it’s a thought provoking read that offers some interesting takeaways as to how we view the role of doctors and how the definition what we think being healthy is has become narrower over time.
I just think a lot of her conclusions lack compassion and appreciation for open disclosure between patients and doctors.

[Rocket Girl · Rating 2 out of 5]

The POTS stuff - 😬. There is actually a good way to pretty definitively tell if someone has POTS - a tilt table test. It wasn’t diagnosed decades ago because POTS wasn’t widely known then. Medicine is constantly moving forward, right?

She says that POTS is basically when blood pressure is affected by change in sitting vs standing. No, babe, that’s orthostatic hypertension or hypotension. If you have significant, sustained blood pressure changes, you, literally by definition, do not have POTS. POTS, clinically, does not affect blood pressure, but heart rate instead. That’s the most basic thing about it. Like, POTS 101 stuff here. Honestly, it’s baffling that that part got through proofreading, after being incorrectly described by an actual medical doctor. Kind of scary actually. How can anyone take her seriously after she writes that, such a basic misunderstanding of one of the illness she writes this entire book about? POTS is treated by a neurologist. She is a neurologist. How can she be so wrong?

I did not come into this with any preconceived dislike of her thesis. I have multiple diagnoses, but am always looking for ways to feel better and get my health more stable. I was actually interested to see what she had to say.

But, can she be trusted with these other illnesses? You’d think she would know this basic stuff, right? I don’t know much, if anything, about Huntington’s, Lyme, or some of the others she writes about. Can I trust that she didn’t also get important information about these wrong?

I’m not going to write off all that she says. But I am going to take it with a huge grain of salt.

And seriously, if anyone reads this and can find out a way to write to her or the publishing company, please let me know. With such an easily disproven definition of one of the key illnesses she talks about, that chapter alone kind of makes her look like a fool.

[Debby Binns · Rating 5 out of 5]

I listened to the abridged version of this on BBC Sounds. It was excellent. The author explores topics such the diagnosis for Huntingdon’s Disease, Autism, Cancer and Long Covid. Each chapter is done in a very procedural way but which may not be popular with all readers. She is a courageous author and is quite forthright in her scepticism of over diagnosis. Fortunately her writing has much compassion and grace. It certainly made me think for a long time after I listened to these topics – and I learnt a great deal as well.

[ThinkReadReflect · Rating 5 out of 5]

The book covers important topics - what is overdiagnosis; is a diagnosis always a good thing; are we pathologizing anxiety; what are the dangers of overdiagnosis - particularly, changes in behaviours because of a diagnosis that then worsens or at least exacerbate the condition. The book raises some hard hitting questions - can we have a societal agreement on what constitutes normal behaviour, and there are some hard hitting truths ("Predictive diagnosis seems to intimidate people that should know better"). I agree with certain points on labelling. But while there can be evidence to support claims that retraining your brain works to address long term conditions such as fatigue and long covid, how such programmes can be rolled out on a global societal level, I am really not sure! Nevertheless, an important read!

[Benjamin Lipscomb · Rating 5 out of 5]

Do I want to argue with it at points, particularly on the topic of truth-telling? Yes. But it is the best challenge I know to my priors on that subject. I might assign a portion of it next time I teach medical ethics.

Between this book and "Crazy Like Us", I have been thinking a lot this summer about psychosomatic illness, which seems to me one of the great crises of our time. We have to find better ways to talk about it, not in order to "stop the nonsense"--there is no nonsense--but in order to do better by sufferers, whose suffering is real and involuntary but not helped much by remedies designed to repair a bodily or neurochemical dysfunction.

This is, like Haidt's The Anxious Generation, one of those everyone-should-read-it titles. I wonder if it could, in some cases, prove therapeutic.

[Bookwormbadger · Rating 4 out of 5]

This was a really interesting and thought provoking audiobook. I have often wondered about over diagnosis, excessive / unnecessary medical screening, and the author discusses these issues so eloquently and in just the right depth. Recommended for anyone interested in the subject.
With grateful thanks to Hodder & Stoughton Audio and Suzanne O'Sullivan for my early copy of the audiobook in exchange for an honest review.

[Pedro L. Fragoso · Rating 4 out of 5]

“Diagnosis is an art and a science, but, surprising as it may sound to some, the art still takes precedence.”

It could be stated, I suppose, that this book makes a compelling argument that “the truth is overrated”... not an easy stance at all. And extremely problematic, obviously. Writing this book must have required immense courage, as it inevitably challenges deeply held beliefs and guarantees controversy.

When it comes to health, I suspect I’m not alone in feeling that if one is doing reasonably well, it may be wiser not to overanalyze—whether through rigorous exercise regimes, the latest dietary trends, or excessive medical consultations. In that light, The Age of Diagnosis reads almost like a quiet vindication. I don’t mind being approached by a doctor as someone capable of responsibility—as an adult able to weigh choices and consequences. But I also recognize how fraught these choices often are. Health is rarely a simple matter; it touches on life, death, the often ambiguous terrain of what we call quality of life... and the need to avoid being sued for malpractice.

“It’s complicated” is an understatement. Reading this book is a deeply rewarding experience—at least it was for me.

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Suggestions that predictive genetic testing should be dialled back or withheld until more is known and better systems are in place to support people can be met with accusations of paternalism. The argument is that people have the right to know more about their future health, if it can be known. But in our excitement to make the most of this new scientific capability and to allow people every choice, I cannot help but feel that a large part of the HD story isn’t being heard. I was very struck when Dr Tadros told me that, often, all she has to do is give people permission not to test. Many people’s first instinct is to assume that knowing is empowering and testing is the responsible thing to do, but one frank conversation with a genetic counsellor reveals that a large percentage of people do not want to risk a positive test hanging over them. They choose hope. Before testing is available to a great deal more people for many more conditions, there is a pressing need to find a better balance between protecting autonomy and protecting a person’s right not to know.

Much is rightly said about the struggle of living with undiagnosed symptoms. A diagnosis that explains symptoms usually comes as a relief. But that is not what predictive diagnosis does. It warns you about future symptoms. It doesn’t tell you when they will happen or how they will start, just that they probably will. Once you know those symptoms are on their way, you can’t un-know it. Before a diagnosis is confirmed, any future is still possible. After it is confirmed, the future is limited. Knowing for sure may prove to be more painful than uncertainty.

That the tests used to help diagnose Lyme disease can be tricky to interpret should not be seen to denigrate the extreme usefulness of tests but should rather help people to understand that tests alone cannot themselves make a diagnosis. Used alone, they can be uninterpretable and even misleading. Diagnosis is an art and a science, but, surprising as it may sound to some, the art still takes precedence. All tests have a false positive and a false negative rate, so a test that is done as a kind of sweeping diagnostic survey in a person with vague symptoms has a high chance of producing confusing results. If a doctor doesn’t know all the confounding variables that affect the test they have requested, they can easily give too much weight to an abnormal, or a normal, result. Frankly, it’s impossible for any doctor to know all the confounding variables for every test, so those requesting tests they don’t encounter every week can easily find themselves out of their depth. And doctors working with tests they do order every week can find themselves out of their depth too! As a neurologist, I send patients for MRI brain scans countless times a month, but I wouldn’t claim to know the meaning of every single tentatively ‘abnormal’ finding. I am regularly handed a scan that shows something that may or may not be relevant to my patient. When that happens, only a discussion with colleagues and radiologists in which the patient’s story is given central position will resolve the dilemma.

The diagnostic criteria for autism have been steadily revised over eighty years and to change the phenotype further to pick up atypical presentations in women or milder cases is the most recent evolution. But diagnosis creep, the gradual expansion of diagnostic criteria, has to stop somewhere. There has to be a point at which a person who doesn’t have the right symptoms and behaviours, or enough of the right symptoms and behaviours, simply doesn’t have the diagnosis. But how can we know when that point has been reached? The answer should be simple in my view: when new people are being diagnosed but there is no evidence that it is benefitting them, or when the diagnosis is causing more harm than good. The purpose of diagnosing autism is to give people support that will help their social functioning. Medication is usually only used in those with severe autism who have significant behavioural problems. For the mildly affected, treatment, if needed at all, takes the form of social and educational accommodations, and psychological and behavioural interventions.

A person with severe or moderate autism stands to gain a lot from treatment and faces minimal harms from the diagnosis, given their degree of disability and unequivocal need for support. It is the mildly affected who have the least to gain and who are more vulnerable to harm. The problem that this group is facing is that there has been a lot of enthusiasm for making more autism diagnoses but not a great deal of scrutiny of the potential harms. (...) Baron-Cohen’s study is unique in being the only one to attract any such objection. Those objections did not come from individuals with severe autism or their families, but from the mild and masked group, many of whom, like Miles, also object to the use of the term ‘severe’. That cuts to the heart of my personal concern about the overdiagnosis trend in autism, which is the effect that overdiagnosis seems to be having on Kanner’s autistic children and on the adults with severe autism like those I look after. Those severely disabled people who could not live in the world without support. They are now in a queue for resources alongside people with considerably fewer difficulties. My patients with severe autism are not represented on TikTok, where people celebrate their great relief at being diagnosed and call for affirmative diagnosis and ask for words like ‘spectrum’, ‘disorder’ and ‘impairment’ to be removed from the language of autism. Those with the greatest need are becoming invisible.

As I write, new criteria are being drawn up to make autism a more available diagnosis for women. This work is being done before we have established whether diagnosing women with autism makes their lives better or worse. Those drawing up the new diagnostic criteria are the same people who publish research on autism, who run services for people with autism, whose careers, reputations and incomes will grow the more people with autism they find. That is not a good model for reframing diagnosis and it is a system in need of reform.

(...) BRCA variants are used to make a predictive diagnosis in healthy people before the disease has had time to develop. (...) a BRCA variant is only a risk factor. It increases the likelihood of certain cancers very significantly but still, not everybody who carries a cancer variant will get cancer. Different variants in BRCA come with a different degree of risk. Some are more deadly than others. Decades of experience of cancer genes has allowed geneticists to create risk prediction models for each of the thousands of variants. Approximately 12% of all women will get breast cancer in their lifetime. That increases to between 60% and 85% in women with certain BRCA1 variants and to between 40% and 65% in women with variants in BRCA2. Two per cent of women will get ovarian cancer in their lifetime. With high-risk variants in BRCA1 and BRCA2, that increases to 40–60% and 10–20% respectively. (...) Women known to carry a high-risk variant of BRCA have the option of taking action to prevent cancer. The foremost of those is risk-reducing surgery. That means having their healthy breasts, ovaries and fallopian tubes removed before cancer has a chance to take hold.

This is the most striking part of the cancer gene story for me—how new this science is and how little reliable information women have had to go on when making these enormous decisions. I have also been struck by how aggressively this problem has been addressed while we have waited for science to provide more definite answers. A woman’s risk of cancer is made using statistical models. But the most accurate statistical models of risk have only been available since 2017. Fifteen years ago, most women with BRCA1 variants were automatically advised they had a breast cancer risk of 85%, some of the worst odds. Since then, more testing in a broader range of people has led to a big improvement in prediction models, allowing more precise individualised odds. The steady rise in risk-reducing surgery began in the late 1990s, long before these individual risk profiles were devised. Many of those women given 85% odds of cancer fifteen years ago would be given a lower risk by current models. Which means more probably had surgery than needed it or would opt for it today.

To a hammer, everything looks like a nail. The specialist system makes it far too easy for a doctor to see a patient as a single body part. It also makes it easy to ignore all the other diagnoses our patients are accruing. Even when we do note the growing diagnosis list, we are disempowered from treating the patient as a whole. Specialists don’t question the practices of other specialists.

We need to learn to value the role of the generalist doctor once again. They have been somewhat sidelined by the view that specialists are the real experts. But specialists don’t always have the full panoramic view of the patient. The hospital generalist and the primary care doctor have that. They know their patients as a whole person.

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[Matthew Loftus · Rating 5 out of 5]

A sharp, thoughtful investigation into the problem of diagnostic creep and aggressive screening is not good for patients. My only complaint is that it was too short---there are a lot of other diagnoses that could have been explored here! More discussion of how people get sicker when they're over-diagnosed would also have been worth including.

[Aleksandra Gratka · Rating 5 out of 5]

Ależ mi zaimponowała doktor Suzanne O'Sullivan! Ta neurolożka i autorka książki, która mnie zaskoczyła, jest kobietą, która nie boi się wkładać kija w mrowisko, nawet jeśli tym mrowiskiem jest spora grupa lekarzy i pacjentów...
Według niej diagnoza to dar i przekleństwo niemal równocześnie. Świat pędzi do przodu, medycyna też się rozwija - to wspaniałe, nie ma co ukrywać. Dla wielu, bardzo wielu pacjentów diagnoza jest błogosławieństwem, bo kończy żmudny czas poszukiwań. Jednak autorka dowodzi (bazując na własnym wieloletnim doświadczeniu i na przykładach swoich pacjentów), że są sytuacje, w których, cóż, sprawa wygląda inaczej. Choćby w medycynie predykcyjnej, czyli diagnozowaniu zdrowych ludzi (obarczonych chorobową historią rodzinną), zanim owa choroba się ewentualnie rozwinie. Przed diagnozą umysł tworzy wiele scenariuszy. Po diagnozie zwykle zostaje tylko jeden.
Nie jest to jednak zniechęcanie do badań. Wiele tu hołdów składanych nauce - teraz wiemy więcej, diagnozujemy łatwiej, rozwiązujemy problemy, które lata temu były nie do rozwiązania. W każdym rozdziale jednak autorka rozważa, co po diagnozie możemy zyskać, a co stracić.

Szczególnie ciekawe wydały mi się fragmenty o ADHD i o autyzmie. Pracuję w szkole i zauważam wysyp tego typu diagnoz. W przypadku autyzmu czasem sama diagnoza daje człowiekowi ulgę, ale zdaniem doktor O'Sullivan rozszerzenie "widełek" objawów idzie za daleko, szafuje się tym terminem zbyt łatwo, jakby samo nazwanie miało być wyjaśnieniem wszystkich problemów. To samo z ADHD u ludzi dorosłych - obok faktycznie cierpiących na to schorzenie sporo zwyczajnych kwestii charakterologicznych.
Według autorki kultura wellness uczyniła światu sporo złego. Zbyt duże oczekiwania wobec siebie sprawiają, że zwykły, uzasadniony smutek traktowany jest jak patologia, która potrzebuje etykietki chorobowej.

Zdrowie, medycyna, profilaktyka, diagnoza. Nic tu nie jest czarno-białe. O'Sullivan nawołuje do włączenia zdrowego rozsądku. Nie każdy smutek to depresja. Nie każda nerwowość to ADHD. Nie każda nadwrażliwość to autyzm. Warto o tym pamiętać.
Bardzo ciekawa lektura, którą szczerze polecam, bo otwiera pole do dyskusji.

[Jacob · Rating 4 out of 5]

This book was quite good. The subject matter is tough to get right and while I don’t agree with everything in the book, O’Sullivan’s perspective here is an important one to consider. In fact, it’s something I’ve already started to hear being raised by people working in medicine.

The thesis is that, for certain conditions, we may have become a bit overeager to diagnose and label. For example, with ADHD and autism, the diagnostic criteria continue to widen and many young people are diagnosing themselves based on TikToks they’ve seen.

Diagnoses provide peace of mind, especially to those who have faced years of unexplained symptoms. To make matters worse, health insurance won’t cover treatments without a concrete diagnosis (and then they still find a way to reject claims once you do lol).

While lots of good can come from a diagnosis, we should be careful about pathologizing what might otherwise be part of the normal human experience. Labels can become a self-fulfilling prophecy where people start scanning for other symptoms associated with the condition and impose limits on themselves that may or may not be helpful. This varies greatly based on the condition and its severity, but it is an important trend to mention.

Much of the search for diagnoses stems from sick people’s very real desire to be taken seriously. Many are pushed from specialist to specialist and worry that having a psychosomatic explanation, rather than a purely mechanical one, means others will write off their suffering as “all in their head” or less real. However, we already accept that many things in the body happen as a result of beliefs or emotional states, like blushing when embarrassed or sweating during a presentation. The placebo effect is real and well-studied. Instead of searching for a cause that is anywhere but the mind, we should extend more grace and compassion to people struggling, no matter what the cause.

[Isabella Hamilton · Rating 4 out of 5]

Some really good points raised by Dr. O’Sullivan in her book. I feel like the argument for overdiagnosis is always overshadowed by the need for the newest technologies that can now diagnose a super rare never-before-seen genetic disorder. But what good are these technologies if there’s no way to treat all these new diseases? And is it instead actually making normal fluctuations in health pathologised? I think to a certain extent yes- and as the author puts it, the milder a medical problem is, the smaller the impact of any intervention and the greater the risk of harms from treatment and the labelling effect. Some really jarring stats in here too (overmedicalisation in Australia is a bigger cause of health cost increases than population growth or ageing).

I think the main takeaway is that a pathological explanation doesn’t mean that there’s a magical treatment for everyone’s health concerns. We’ve been conditioned to go to the doctor for every fluctuation and are made to be believe like there’s something wrong if you’re not sleeping 7 hours a night or feel sad for an extended period of time. On the flip side I understand what a diagnosis can do and how that can support certain people by forming communities. But then a lot of people find themselves inundated by their diagnosis and it becomes their identity. I think this is what the author was trying to hit home on, not that early prevention strategies aren’t useful, but we’re becoming increasingly reliant on them and actually overdiagnosing a lot of our population.

I also liked reading the dialogue in the reviews of this book. Some people have some really strong opinions against it which I can understand if you think this book is saying that your own personal diagnosis was a waste of resources. But I actually think it’s saying the opposite; if your diagnosis and treatment improved your quality of life, then the medical system worked for you. But there’s so many people that are left with a diagnosis and no path forward for treatment (Huntington’s chapter weighed pros and cons really well). Then it kinda just feels like a black hole and you’re left to figure it out yourself. Are we then better off not knowing? I think it’s just circumstantial and dependent on the person. Okay I’m done this is the longest review I’ve written

[Sammie g · Rating 4 out of 5]

If everything’s a diagnosis, nothings a diagnosis. Absolutely fabulous read. Highly recommend to any medical or helping professional

[Nicola]

This is a very interesting and sometimes quite disturbing book about the general rise in diagnosis of ailments of all kinds. There are separate chapters on different conditions, such as Lyme disease, Huntington's disease and autism -- the topic that got me reading Ginny Russell's excellent book (qv).

O'Sullivan is a neurologist who draws on her medical knowledge but also her very insightful and empathic knowledge of patients, to argue that we need to question why there is such a huge rise in diagnosis across all kinds of conditions. I was especially struck by her claim that "We're not getting sicker, we're attributing more to sickness" and the "pathologising of distress", with the belief that if we can diagnose something, there must therefore be a cure. This is especially relevant for the ethics and effects of deciding to take a genetic test for diseases where there is no current treatment. O'Sullivan notes that discovering one has a risk factor often does not lead to behaviour change, and finding you are not at high risk can lead to less healthy behaviours. Over-diagnosis can also create real harms where people have radical treatment because of a risk factor, when they may never have got the disease, as in the initial identification of the BRCA breast cancer gene. There are apparently 72,000 variants of the gene and just 5,000 of those bring increased risk.

The statistics behind public health decisions e.g. to give preventative care, are very complex, and the explanation here is about as clear as it can be: this aspect of public health came to the fore in the Covid vaccination debate. I had no idea Lyme disease was such a confused area, and there are links here to how the wide categories made for conditions such as long covid or autism frustrates further investigation because different experiences get lumped together. In regard to autism, a recent genetic paper shows quite distinctive genetic links in early- and late-diagnosed autism, and I can imagine that 'autism' as a category may well cease to be useful in understanding the range of conditions and experiences it spans. She also explains that test results aren't the slam-dunk that patients believe them to be, and there is also plenty of cold water poured on the idea of the 23-and-me style genetic testing services. As she notes, your postcode might predict disease as much as your genetic code.

There's a good section on the use of biology or neurological differences to legitimise the idea of a condition being abnormal: as she points out, every behaviour is accompanied by a neurological correlate. Focusing on biology leads straight to an essentialism (it can't change) and looking for pharmacological solutions to distress, whereas people wouldn't consider that early deprivation should be cured by a pill. One danger is the use of a condition as an identity, that encourages the person to remain in that group - her example is Hadley Freeman's writing about her 'anorexia identity' that Freeman did not want to relinquish. Instead, O'Sullivan cites a 'recovery identity'. I always remember a GP, seeing my permanently cold fingers and toes, explaining that I was experiencing 'Raynaud's Phenomenon', and not 'Raynaud's disease': that's very much in O'Sullivan's vein of thinking, and I just make sure I always have gloves with me. At the same time, just to ensure no misunderstanding, O'Sullivan is in no way denying that diseases exist, and her humanity clearly shows through.

In a nutshell: There is ordinary human suffering, and medicalising it often does more harm than good.

[Agnieszka_Ines83 · Rating 5 out of 5]

To była lektura, która zostawiła mnie z drżącą myślą: jak wiele w naszym życiu zależy od jednego słowa - diagnoza.
Styl O’Sullivan jest ciepły, empatyczny, a jednocześnie wyjątkowo szczery. Nie prowadzi nas za rękę, nie podsuwa gotowych odpowiedzi. Raczej otwiera drzwi do tematów, o których często boimy się mówić, i pozwala nam wejść tam samodzielnie.
Książka podzielona jest na sześć części. Autorka, brytyjska neurolog zabiera nas w podróż od choroby Huntingtona, przez boreliozę i nowotwory, aż po neuroróżnorodność. Każdy z tych tematów jest jak osobna opowieść o lęku, nadziei i próbie zrozumienia samego siebie.
Podczas lektury wiele razy łapałam się na myśli:
czy diagnoza jest darem, czy może ciężarem, który nosimy do końca życia?
Bo zanim usłyszymy coś od lekarza, często zdążymy już przeżyć setki scenariuszy, przekopać internet, wystraszyć się bardziej, niż to konieczne. Dr Google potrafi wywołać więcej bólu niż ulgi.
„Wiek diagnozy” to książka, która patrzy na człowieka całościowo. O’Sullivan przypomina, że nie każdy smutek jest depresją, nie każde rozkojarzenie ADHD, a nie każda wrażliwość autyzmem. I że za objawami stoi przede wszystkim człowiek z historią, emocjami i lękami.
Szczególnie poruszyło mnie to, jak autorka opisuje mechanizmy psychologiczne: efekt nocebo, moc etykiet, to, jak potrafimy „chorować w głowie”, zanim zachorujemy naprawdę. A wszystko to oparte na badaniach, rozmowach z ekspertami i latach praktyki. Jest w tym ogrom delikatności, a jednocześnie brutalnej prawdy.
O’Sullivan pokazuje też, jak bardzo współczesna medycyna, technologia i presja kontroli sprawiły, że zaczęliśmy bać się własnego ciała. Jak bardzo chcemy nazwać każdy stan, każdą emocję. I jak czasem to właśnie ta potrzeba nazwania potrafi zranić najbardziej.
Ta książka zostawia emocjonalny ślad.
Uświadamia, że trafna diagnoza może uratować życie, ale też potrafi je na zawsze podzielić na „przed” i „po”. A niewiedza… choć bywa przerażająca, potrafi też dawać złudny spokój.
Nie ma tu prostych odpowiedzi.
Jest za to przestrzeń na rozmowę i na refleksję.

I to właśnie czyni tę książkę tak ważną.

[Juliettaa · Rating 5 out of 5]

Bardzo ciekawa i potrzebna w dzisiejszych czasach pozycja. Jak mówi dr O'Sullivan żyjemy w wieku, który żyje diagnozą. Zadaje pytanie - czy diagnoza to wiedza, czy przekleństwo naszych czasów? Do tej pory nie zastanawiałam się nad tym na tyle intensywnie, aby móc wyrazić swoją opinię, lecz lektura tej książki nieco mi w tym pomogła. Zawsze uważałam, że nadmierny strach o swoje zdrowie, analizowanie każdego z niepokojących symptomów takich jak ból głowy, czy zwykłe zmęczenie, które również w dużej mierze zależą od naszego stylu życia od razu ubierać w etykietkę jakiejś poważnej choroby. Bardzo łatwo jest w ten sposób wpaść w niebezpieczną pułapkę i jak to świetnie przedstawiła autorka - dać naszemu organizmowi odegrać scenariusz, który rzeczywiście zakłada występowanie poważnej choroby (która niekoniecznie może być niebezpieczna, albo i wcale nie musi wystąpić). Oczywiście, nie chodzi też o to, aby trywializować takie symptomy jak nieustanne zmęczenie, ból głowy, niezdarność, czy nadpobudliwość, tylko reagować w odpowiedni sposób. Wielu ludzi neuroróżnorodnych po zdiagnozowaniu ADHD czy autyzmu, odczuwa ulgę, że w końcu wiedzą co im dolega i dlaczego są inni. Warto jest się również zastanowić jak wielki wpływ nadrozponowalność może mieć na nasze życie, o której tak często mówi autorka - czyli zacieranie się granic między rzetelnym i przemyślanym diagnozowaniem chorób u tych ludzi, którzy rzeczywiście są chorzy, a tych, którzy po prostu są inni i wymagają na przykład zmiany stylu życia. Czy nie można już po prostu być zmęczonym, zdenerwowanym czy zapominalskim? Czy jest to od razu symptom choroby?

Dr Suzanne omawia i analizuje wiele przypadków z którymi miała styczność, są to przede wszystkim historie jej pacjentów, uzupełnia je danymi statystycznymi i faktami z dziedziny medycyny z całego świata. Książka jest naprawdę wciągająca, skłania do refleksji i na chłodno analizuje - nie czułam żadnej presji, aby skłaniać się bardziej ku temu, czy diagnozowanie "na siłę" jest dobre czy nie - ale zdecydowanie dzięki tej lekturze można sobie ten temat przybliżyć, dla mnie szczególnie ciekawe były fragmenty o autyzmie, ADHD i raku piersi.

[Gelaine · Rating 3 out of 5]

mixed feelings about this one.

some really informative stuff re: psychosomatic symptoms and really debunking the myth behind it.

very harrowing thoughts about the future of genetic sequencing - made me think of the film 'Gattaca' with its concept of genetic determinism especially when she talked about 'designer babies'

made me understand a little bit better the idea of under vs over-diagnosing patients and the 'nocebo' effect.

where i found it difficult was when she talked about autism, adhd, and people who identify as 'neurodivergent' - i understand what she's trying to say but I do also think it's empowering that people can identify themselves freely when given that proper diagnosis. she does make a point that this generalization can affect resources and "take it away" from those that need it the most.

I do notice that more and more patients (younger ones too) come with a variety of medical histories such as Ehlers–Danlos syndrome, anorexia, anxiety, chronic pain, depression, stiff-person syndrome, functional neurologic disorder etc. All those 'labels/diagnoses' can really take a toll on someone ... to the point where over-medicalization and polypharmacy can almost do more harm than good.

lots to reflect on and it almost feels like the more we progress with modern technologies in the medical field, the less we know how to properly treat medical illnesses. Moreover, with AI on the rise... it'll be interesting to see how politics, ethics, and societal norms clash when it comes to health & medicine. Like what the author says, I agree that this future will have a significant impact on the concept of ageism and disability. I do still think that investments on skilled staff and training is a higher priority.

[Karisher · Rating 4 out of 5]

I was asking the same questions as the author at the beginning of this book, particularly about the increasing population of people diagnosed with ADHD and autism, so it was a no-brainer to buy this book that promised answers to that (and other) questions.

To preface this, I'd like to clarify that I know people (including close ones) who are diagnosed with ADHD, autism, depression, and other neurodevelopmental disorders/mental health conditions. On top of that, I have relatives who have died of cancer, which naturally has always been a concern of mine. All to say that I am familiar with some of the conditions mentioned in this book.

Long story short, I really liked the discussions the author brought up and interviews with multiple people on all sides of the spectrum (starting with a 60 year old guy (don't quote me on this) who is adamant about letting neurodivergent (not a medical term) people show their "true self" (weird parallels with the LGBTQ+ community) and ending with a lady who is taking care of her adult (physically) son with severe autism). It definitely made me think a lot while reading. Especially about the value of a diagnosis and how much, truly, we, as a society, expect of medicine.

On the one hand, as an anxious/controlling person, I'd like to think that I would prefer to do all the tests and know all the results, and yet... It probably would do me no good if I were to do a BRCA gene test, especially knowing how undefinitive the results will be, and how prevalent the environmental factors are instead.

Some notes from the chapters (I highlighted quite a few pages)

Prologue
Two scenarios that can happen when a person gets a diagnosis.
1. Be better equipped, plan ahead, and get needed support.
2. Internalise the diagnosis and limit oneself because of said diagnosis.
Of course, the outcome also depends on the diagnosis itself and the help the person will get, but I do know people who, unfortunately, fell into category two, and it is exhausting being around them.

Huntington's disease
Genetic counsellors
PGT screening for certain genetic conditions
Predictive coding (past experiences help predict how to interpret sensory signals and behaviours)

Autism
Some people are just chronically online and need to get off the internet for once. The genetic study is thought to be the start of "eugenics". The fact that the whole thing was cancelled because people with mild autism did not want to look into the causes of autism or draw meaningful groups. As if labelling all people with cancer the same group (including those with the last stage, on a deathbed, and those with mild to no symptoms (aka it might not even grow to cause an issue)) is different.
The end of the chapter was just sad. People with severe conditions (if we use the spectrum) need a lot of support, but might not get it because it's "easier" to help people with mild conditions, let alone, they are more visible. In the ideal world, I would love for everyone to be supported, yet we live in a real world with fewer resources than needed.

Cancer gene
Basically "не все так однозначно"
Quite haunting the fact that prevention programs might not have any real basis beneath them (as in, the overall statistics stay the same while people get overdiagnosed and potentially overmedicated).
The story of the lady going through body-altering surgeries to prevent potentially having ovarian and breast cancer after finding out about the BRCA gene. Scary as hell. Especially since there is no definitive answer. I do understand, however, especially after how much her mom has gone through.
Epigenetics is very interesting. As the author puts it: "Factors like diet, exercise and sleep can turn genes on and off. The genetic code itself doesn't change, but how the body reads the code does."

ADHD, Depression and Neurodiversity
Biologising or pathologising. "It is not unusual to hear depression described in terms of a serotonin deficiency rather than as a reaction to life circumstances." I do like the idea of giving control over to the patient. I can see how that can put more pressure (as a "Did I do that to myself?"), especially with psychogenic things, but it is not a passive "things happen to me".
I also like the idea that mental health problems (perhaps not all, but a good bit) are survival strategies. This makes a lot of sense. Reminds me of when I was looking into dissociative identity disorder, and that a kid's brain is just trying to protect itself.
Effect of labelling on identity. Again, I know people like that. Also, I am not perfect either. I've noticed that the more I read or think about anxious attachment (which I am), the more I behave and act out of it. The less it is on my mind, the less I act like that. Sure, not thinking does not solve the issue, but it definitely makes it less pressing, at least in my case.

Syndrome without a name
"Variant of uncertain significance"
Gene testing is not a definitive answer. Far from that. "...but rather a range of potential abnormalities that are then subject to interpretation by computer and human combined."
Testing for the likelihood of Down syndrome will depend on more factors than the genes. In an older woman or a woman who has a pretest high risk, the likelihood is higher.
"Early environment matters more than genetic risk to mental health, and lifestyle matters more to general health."
The success of a new diagnostic criterion is measured by the number of new patients rather than life quality improvement.

At the end, the only thing I can say is that we (and I am pointing at myself here) need to learn to live with the uncertainty and be fine with some things just... Happening. We cannot be perfectly healthy and happy all the time, that's just not how nature has intended, and we need to be at more peace with that.

P.S. the only issue I had with the book was inconsistent data comparisons. In some places it would be "80%", in another "2.5 times", and in a third one "twenty percent".

[Paul Snelling · Rating 5 out of 5]

Humane and wise, this book questions overdiagnosis especially at the 'mild' end of several sprectra. Here, the questionable benefits of diagnosis are seldom weighed against the cost of pathologising and biologising tendencies of modern medicine and, by extension, society. There's a wide range of subjects discussed, illustrated by sympathetic telling of several case studies of her patients. She calls for fewer tests, fewer diagnosis. fewer specialists - and more time for the slow arts of healthcare to flourish, helping us to focus on what we can do rather than seeking medicalised labels to explain what we can't. Clear sighted and timely - I hope that this book is read widely by the public clamouring for tests and diagnoses as well as the medical professionals keen to provide them.