The Age of Diagnosis

[...] All too often, the assumption that better, earlier, more advanced, more inclusive diagnosis is definitely for the best is so strongly held that it is never properly tested. My worry is that the scientific community’s hunger to use all its new diagnostic capabilities to their fullest capacity and to find medical problems in their mildest and earliest forms – along with our natural, human thirst for explanations – has not allowed enough time to weigh up value against harm.

Importantly, overmedicalisation and overdiagnosis are not just things that the medical community are doing to the unsuspecting public. The pathologising of distress, the sanitising of the messy truth of life through biology, is a scientific and a social trend. If we do indeed have an overdiagnosis crisis, how is society’s expectation of success and perfection playing into that? We are encouraged to believe anything we want should be possible for us, but that cannot always be true. I fear that medical diagnosis has become something that is used to reframe our perceived failings. An unrealistic expectation of an unachievable level of physical and psychological perfection might be turning us into patients and robbing us of control over our own destiny.

Forgetfulness, lack of motivation, noise intolerance, social anxiety, low mood, distractibility and concentration difficulties are all part of the human experience. Each of these have become increasingly pathologised, in part because of their inclusion in categories in the DSM [(Diagnostic and Statistical Manual of Mental Disorders)]. It’s very easy to criticise the DSM for its role in pathologising ‘normal’ and for encouraging the medicalisation of all human suffering, but actually I think it would be hard to do without it. Systems that classify illness and disease are essential, and I can’t see how health services or research facilities would operate in their absence. For example, scientists couldn’t study people with symptoms consistent with schizophrenia if those affected were so variously labelled that they couldn’t be grouped together. A shared language is needed to allow professionals to communicate about patients and to develop services. Insurance companies demand diagnostic categories like these to prove we are really ill.

The problem with the DSM is not that it exists but that it is taken more literally than intended. It also seems to be very hard to dial back DSM categories, even when it is clear they have gone too far. Whenever a tightening of diagnostic criteria risks taking a diagnosis away from some people, a new diagnostic label is usually created so nobody will be without a diagnosis. That is what happened in the DSM-5, when the category of ‘social (pragmatic) communication disorder’ was developed to account for people who might no longer qualify as having autism according to the newest criteria. Every new volume even suggests problems worth considering as future ‘conditions’. The DSM-5 committee suggested ‘caffeine use disorder’ as a potential category for the next edition. This is defined as problematic caffeine use leading to impairment and distress. And the biologising is already underway: studies on twins show caffeine overuse is heritable and variants in the ADORA2A gene have been associated with it.

Genetics results are impressive in their newness and their complexity. People expect a higher standard of result from genetic analysis than they do from a scan or simpler blood test. But genetics tests are subject to the same errors and difficulties as most other tests. Interpreting their meaning cannot be done by a computer alone. The technology might be cutting edge, but diagnosis still rests as much as it ever did on the quality of the doctor.

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Genetic determinism is the belief that genetic coding is much more important to a person’s health and development than external factors. Genetic determinism gives people no credit for how behaviour and environment impacts gene expression. It gives no credit to epigenetics. As Professor [Anneke] Lucassen had advised me before, a person’s postcode at birth can potentially predict risk of future disease just as well as the genetic code.