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A diagnosis of dementia delayed is a diagnosis denied

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The first (and thus far) only English dementia strategy was published by the Department of Health in February 2009. Entitled “Living well with dementia” it was described accurately that under-diagnosis of dementia was the norm.

The current feeling about this diagnosis is that it should be a ‘timely diagnosis’. In other words, it should be delivered in a person-centred way, at a time that is right for the person receiving the diagnosis.

The critical recommendation is that a specialist diagnosis should be provided at some stage.

Extract

The type of dementia is indeed relevant. For example, it is possible to target cardiovascular risk factors, such as bad cholesterol, smoking and high blood pressure, to slow down the progression of vascular dementia. Also, say, in diffuse lewy Body dementia a doctor would be wise to avoid prescribing certain medications.

In Chapter 4 of the Department of Health’s “Living well with dementia” (2009), the issues presented by a badly timed diagnosis are provided.

Currently only about one-third of people with dementia receive a formal diagnosis at any time in their illness. When diagnoses are made, it is often too late for those suffering from the illness to make choices. Further, diagnoses are often made at a time of crisis; a crisis that could potentially have been avoided if diagnosis had been made earlier.

Looking at the reality, it is impossible for GPs who are clearly overstretched (as today’s #LMCConf bears out) to be able to make a definitive diagnosis of dementia in a ten minute consultation (or even a twenty minute consultation if a “double slot”).

The question “do you have problems with your memory?” is clearly a daft screening test as, whatever its sensitivity, its specificity is poor. It will pick up problems in memory ranging from the ‘worried well’ to severe depression.

Secondly, a major problem is in the diagnosis of young onset dementia, defined arbitrarily as dementia before the age of 65. One possible cause of this is posterior cortical atrophy, possibly a variant of Alzheimer’s disease, where the predominant initial symptom is in higher order visual processing. Invariably, memory is OK. Memory also tends to be relatively OK in the frontal form of frontotemporal dementia.

The need for referral to specialist services is a very important one. Hospital doctors have a considerable advantage in being able to make the precise diagnosis of type of dementia, with access to sophisticated neuroimaging, blood tests, detailed cognitive psychometry, brainwave scans (EEG) and also tapping off cerebrospinal fluid through lumbar puncture.

The precise gamut of investigations, in addition to a detailed history and examination of the possible proband of person with dementia (and a history, equally of about an hour, from a reliable witness such as a family member), will depend on how obvious the diagnosis is, perhaps.

Some, in very unusual cases, may even require a biopsy of skin, nerve, muscle or brain.

The need to close the ‘diagnosis gap’ was a laudable good intention of the All Party Parliamentary Group 2012 report entitled “Unlocking diagnosis”.

Prof. Sube Banerjee was one of the co-authors of that important document. At a fringe meeting of a day at the King’s Fund, “Leading change in dementia diagnosis and support” in February 2015,  on which I was included as a member of the main panel discussion, Banerjee returned to the importance of the correct diagnosis of dementia.

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The UK National Screening Committee (UK NSC) in January 2015 upheld its recommendation against screening everyone aged 65 and over for dementia.

This is clearly the correct decision to me.

There is no screening test which is sensitive and specific enough to pick up the dementias. Bear in mind there are over a hundred different types of dementia (depending on how you count them).

Dr Anne Mackie, Director of Programmes for the UK NSC, said at the time:

While the current test would identify people with mild cognitive impairment, many of them would not go on to actually develop dementia. The evidence shows us that for every 100 people aged 65 tested, 18 would test positive, but only 6 of these would have dementia and 1 case would be missed.

This means we cannot recommend universal screening.

The whole situation was further complicated with NHS England’s ubiquitously criticised decision to incentivise general practitioners through QOF to make a diagnosis of dementia, leading to some pretty untastely headlines – including even in the Financial Times.

FT

This undermined potentially trust in the doctor-patient relationship, where it was known that there was now financial pressure from Government to make the diagnosis. Some in Big Charity even intimated that it was the general practitioners’ fault for not making the diagnosis, when the medical profession through their training were well aware that there exist complicated issues for why patients seek a diagnosis of dementia (for example as described here by Werner and colleagues in 2014).

So actually what happened was ‘demand management’ in the wrong direction. Jeremy Hunt raised expectations through a media war on late diagnosis of dementia (as below), when all along the critical issue is how long people have to wait to get a correct diagnosis of dementia from a specialist, such as memory clinic.

Hunt

The fundamental issue is that a diagnosis delayed is a diagnosis denied. People languishing in waiting for a specialist referral, to find out whether they have dementia or not, having been told that they might have dementia, is quite sadistic, some might say. Certainly not an approach endorsed by the medical profession.

This is not of course the first and only time Jeremy Hunt has actively done harm from a public health perspective. His other interventions on stroke and skin lesions (from tweet) have been equally potentially disastrous, worthy of a clinician being under a spotlight, some might argue, by his or her regulator.

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But what is happening after this delay while people are waiting for the diagnosis from specialist services?

Some people find out that they don’t have dementia at all. For example, Ken Clasper has blogged openly about how he became re-diagnosed with minimal cognitive impairment, with considerable personal readjustment.

To put it succintly, “mild cognitive impairment” is a clinical diagnosis in which deficits in cognitive function are evident but not of sufficient severity to warrant a diagnosis of dementia (Nelson and O’Connor, 2008).

However, the evidence of progression of MCI (mild cognitive impairment) to DAT is currently weak. It might be attractive to think that MCI is a preclinical form of dementia of Alzheimer Type, but unfortunately the evidence is not there to back this claim up at present: most people with MCI will not progress to dementia even after ten years of follow-up (Mitchell and Shiri-Feshki, 2009).

It is not necessarily the case that a clinician makes the ‘wrong diagnosis’. But this a big deal – as a wrong diagnosis of dementia subjects someone to a pretty life changing event in itself, and also there’ the opportunity cost of not having the actual condition being managed properly?

Firstly, I explained previously how GPs can only make a working diagnosis in severe scare resource restraint in time and funding. There is too much of a rampant blame GPs culture currently.

Secondly, clinical presentations change can all the time. By the time a patient gets to see a professional in a specialist service, his presentation might be more florid or obvious. The symptoms could be more obvious, for example.

Thirdly, specialist services have access to tests which can refine the diagnosis. For example, it is not uncommon for a diagnosis of vascular dementia to be added to a diagnosis of Alzheimer’s disease, if a patient presents with a particular type of brain scan – this information would not necessarily have been known to the general practitioner.

Fourthly, I don’t believe that you can suddenly wake up with dementia one morning and not have dementia the previous day. The development of a dementia is a gradual process; all that changes is whether a particular individual fits within a particular diagnostic criteria.

And these criteria change all the time.

When, a few years back, some clinicians revised the criteria for the aMCI, they were aware that many people with dementia would become re-classified as having aMCI. This ‘reclassification’ of diagnosis might have substantial effects, for example, on a State funding benefits.

In an ideal world, you’d want to follow serially for a while a person with possible dementia to see if that person’s cognition or behaviour is indeed markedly changing. This would be an ideal built-in requirement for the diagnosis of dementia as the most common dementias are by definition chronic irreversible and progressive, caused by conditions of the brain.

The delay while someone is waiting for specialist services serves another function too.

Remember the Government statement about the national screening committee? It also contained the following.

Dr Charles Alessi, dementia lead for PHE, said:

In the absence of a treatment or cure, it is important that we take action to reduce the numbers of people getting dementia, delay the onset of dementia or reduce its impact.

PHE and the UK Health Forum published the ground-breaking Blackfriars Consensus earlier this year, which makes the case for concerted action to reduce people’s risk of dementia by supporting them to live healthier lives by doing things like eating well, being active and not smoking.

The mood music has changed.

Firstly, we’ve got another thrust of policy where we are all drug trial guinea pigs now. And many people have vested interests in promoting the idea that there is a pre-symptomatic phase of dementia, called “pre-dementia”, which is amenable to treatment. This of course is part of the whole problem of the over-diagnosis trend which Dr Iona Heath has brilliantly discussed.

Similarly, I feel Prof John Yudkin has been right to draw attention to the similar phenomenon of ‘pre-diabetes‘, which many of us feel serves the function of opening up new markets, patients who can become customers for drugs. Deborah Orr’s article on over-medicalisation of illness in general is brilliant, and I strongly commend it to you.

Your risk of developing dementia might be made possible with your personal genomic scan being done in the future. And with the results, you might possibly be tempted to seek private health insurance. Risk is fundamental to how that industry works.

It is well known the warmth with which the current Government discusses informatics/Big Data and personal genomics.

Take for example George Freeman MP talking in parliament on 29 January 2016. This is the sort of stuff which public-private collaborations are made of, where the State can underwrite future shareholder dividends in private companies, and where the NHS can finally export an aspect of dementia care as ‘profitable’.

The Hansard entry goes thus:

George Freeman

Public health, despite formidable cuts from the current Government in their spending review, remains big business. This was elegantly discussed in an article in the British Medical Journal on the ‘corporate capture of public health’ in 2012. [Mindell, JS; Reynolds, L; Cohen, DL; McKee, M (2012) All in this together: the corporate capture of public health. BMJ (Clinical research ed), 345. ISSN 0959-8138.]

Secondly, people who are told they ‘maybe have dementia’ can enrol onto research programmes. There is now a national aspiration for the number of people to be enrolled through programmes such as #JoinDementiaResearch. Or people may simply be encouraged to donate directly to charity to fund dementia research, with an agenda skewed in a direction away from quality of care towards ‘future treatments’.

But I do feel, as leading campaigner Dr Martin Brunet clearly does, that we should continually be on guard as to who exactly benefits from the current dementia policy.

An apt starting point will be to know for certain what are the regional variations in the wait to get to memory clinics from primary care. We also need to know roughly want proportion of diagnoses at primary care need to be revised.

And finally, we need to know what to do about this (for example is there a case of further training of health professionals in the diagnosis of dementia?)

What we don’t want is an expedited diagnosis which turns out to be wrong. The leading campaigner Chris Roberts, living with mixed vascular and Alzheimer’s dementia, has specifically warned about this in public conferences.

A quote often misattributed to Joseph Stalin is, “The … of one man is a tragedy, the … of millions is a statistic.” I do not want this debate to blame anyone (especially when the medical profession is doing its utmost for this policy). I want us to learn constructively from where things have clearly gone wrong. This will be for the benefit of all NHS patients.

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Have Big Pharma undermined the case for screening through their grip on dementia policy?

Certain General Practitioners are ‘on heat’ as they take great delight in identifying that dementia does not meet current screening criteria, but they are missing their targets of creating maximum fuss but totally missing the point. In their narrow world, they define “benefit” as a treatment such as a magic bullet. “Benefit”, I believe even under the Wilson and Jungner (1968) construct, can mean something much wider, and ultimately the authors give a very big sense of this being for the benefit of the person or patient not the benefit of the physician. We simply have a lack of evidence base for living well with dementia, due to charities which focus on cure, care and prevention. Without this evidence, we cannot say, any of us, however big or small in the medical establishment or outside, that there’s “no benefit”. Carts and horses spring to mind. This is a good case of medical hierarchy being utterly irrelevant to ‘who is right’, and more importantly ‘what is right’ for the person trying to live well with dementia after his or her diagnosis.

There’s no doubt about it. There’s been an intense policy drive to encourage people with memory problems ‘to present themselves’ for early diagnosis, and various devices have been used to encourage this, including participating in drug research (hence the extreme media publicity for a ‘drive for a cure’). Screening for dementia is a pot of gold for the ‘dementia health economy’, even more so than “Dementia Friends”, as it produces a new market for people who might be eligible for a drug treatment that ‘stops dementia in its tracks’ one day. But some of the confusion has come from the extent to which the screening criteria embraces early symptomatic persons as well as completely asymptomatic ones, and official guidelines, derived from Wilson and Jungner (1968), are not solely for early symptomatic people. But the irony is that the relentless focus on the medical model, without resources going into demonstrating the efficacy of wellbeing interventions as a way of ameliorating morbidity in dementias, including Alzheimer’s Disease, may be ultimately stopping the screening criteria being met, denying access of Big Pharma to this pot of gold. But the way in which Big Pharma has a stranglehold on big charities and research programmes, epitomised by the recent G8 dementia summit in Lancaster House frontloading personalised medicine, could be entirely to blame.

Various intellectual frameworks have, for example, been proposed for the screening of dementia in primary care outside of this jurisdiction. For example, this scheme appeared in the following paper.

intellectual framework

The UK NSC policy on Alzheimer’s Disease screening in adults is in fact clear. A systematic population screening programme is not recommended. The National Screening Committee criteria for appraising the viability, effectiveness and appropriateness of a screening programme are based on the criteria developed by Wilson and Jungner in 1968 and address the condition, the test, the treatment and the screening programme. The need to refine them in the genomic age is illustrated in this statement from WHO in 2008. I have no intention of discussing the usual issues of screening/early detection, such as the distress caused by a false diagnosis, described elegantly elsewhere.

There is no doubt that the drives for screening at all under standard criteria suffer from a lack of inexpensive test which is sufficiently sensitive and specific – but this might be a temporary situation, and might be ultimately resolved one day with the correct ‘mix’ of questions, say in testing a wide range of neurocognitive functions. What is clearly untenable is sticking a large needle into the backs of all people who might be at risk of developing dementia to collect cerebrospinal fluid for biomarkers, or doing expensive MRI scans on everyone (notwithstanding the known limitations of brain scans in making the dementia diagnosis.)

A significant stumbling block is that there should be evidence from high quality Randomised Controlled Trials that the screening programme is effective in reducing mortality or morbidity. Clearly, drugs in reducing mortality for Alzheimer’s disease, which is only one type of dementia, have been lacking. The conclusion that there have been no randomised controlled trials to show that a screening programme for Alzheimer’s disease would be effective in reducing mortality or morbidity. But in fairness there has NEVER been a drive to collect a robust body of information on the long term effects on living well with dementia from an early diagnosis of dementia. Nobody has wished to fund it. The data are lacking. Decades and millions at least have been chucked into the aim that the drugs which ‘don’t work’ (and in fact can have dreadful side effects).

It is interesting that the stumbling block is not the lack of pre-symptomatic stage, though interestingly the National Screening Committee never make reference to mild cognitive impairment, which people who do not understand the evidence incorrectly refer to as ‘pre-dementia’. It is argued, for example, that during the pre-symptomatic period there is a gradual loss of axons and neurons in the brain and at a certain threshold the first symptoms, typically impaired memory for events and facts appear.

And it’s a useful context to think about the ethos in which the Wilson and Jungner criteria should be applied? Wilson and Junger themselves used the term ‘principles’ for ‘ease of description rather than from dogma’. It is unlikely that any screening programme will be able to fulfil all of these criteria to everyone’s satisfaction in any case. The question therefore arises as to whether each criterion has equal merit, or whether there is a hierarchy of importance using this construct. Wilson and Junger felt that ‘of all the criteria that a screening test should fulfil, the ability to treat the condition adequately, when discovered, is perhaps the most important’.

And the build up of these criteria emphasise the clinical method, although the literature in reviewing data results as a desktop exercise is massive. Jungner and Wilson themselves state:

“The medical history is very important, and can be obtained by appro- priate questionaries. It has been reported from many investigations that the medical history and the physician’s physical examination make the greatest contribution to the diagnosis. However, most of the diagnoses are then known before the screening procedures. How much medical value is afforded by the notation of earlier known disease remains to be seen. Obviously, the information is most useful the first time an examination is undertaken. The history is of immense value and the advantage of questionaries is great.”

Jungner and Wilson refer to their review of relevant papers in the 1950s, and their criticisms of case-finding in the absence of seeing the big picture are well known from close reading of their paper.

They cite:

“Some of the chief points made in these papers were:
(1) Case-finding by multiple screening is a technique well suited to public health departments, whose role is changing.
(2) Provision for diagnosis, follow-up and treatment is vitally impor- tant; without it case-finding must inevitably fall into disrepute.
(3) Tests must be validated before they are applied to case-finding; harm may result to public health agencies’ relationships with the public (not to mention the direct harm to the public), and with the medical profession, from large numbers of fruitless referrals for diagnosis.”

Putting all your eggs in the investigations basket has been a discredited approach in the past in neurology. 71  investigators who conduct MRI studies in the United States and abroad took part in a particular study and 82% percent (54/66) reported discovering incidental findings in their studies, such as arteriovenous malformations, brain tumours, and developmental abnormalities. Auhors of that particular paper (J. Magn. Reson. Imaging 2004;20:743–747) proposed  that guidelines for minimum and optimum standards for detecting and communicating incidental findings on brain MRI research are needed.

So is it viable to do backdoor collection of data to identify cases? Wilson and Jungner indeed describe this failed approach in diabetes detection, according to Joslin and colleagues this work goes back to 1909, when Barringer had reported the findings on over 70 000 persons examined for life insurance purposes. Wilson and Jungner themselves noted that, “Despite all this work it is still difficult to evaluate the results in terms of benefit to the populations screened. Some of the criteria for case-finding discussed above remain unsatisfied.”

So this lack of intelligent thinking from the medical profession has come full circle many years after the original Wilson and Jungner paper. General Practitioners  increasingly now recognise the importance and benefits of a timely and explicitly disclosed dementia diagnosis. But it’s argued that there are many barriers to diagnosis at both the physician and patient level. Barriers at the physician level include time constraints, insufficient knowledge and skills to diagnose dementia, therapeutic nihilism and fear to harm the patient.

But it’s impossible to skirt around the basic ‘rules’ of medical ethics, much as non-clinicians in the dementia economy might like to. These include respect for autonomy, beneficence, non-maleficience and justice. And doing things without a patient’s consent, if they have mental capacity, is ethically offensive and legally could constitute assault or battery. This issue has been seen in coeliac disease previously, reported in a paper about a decade ago (Gut. Jul 2003; 52(7): 1070–1071):

“Although the investigational process for population screening and case finding may be the same, there is an important ethical difference between them. If a patient seeks medical help then the physician is attempting to diagnose the underlying condition (for example: patients with CD who present with symptoms of irritable bowel syndrome). This would be classified as case finding and clearly it is the patient who has initiated the consultation and in some sense is consenting for investigation. Conversely, individuals (who are not patients) found to have CD through screening programmes, may have considered themselves as “well” and it is the physician or healthcare system that is identifying them as potentially ill.”

And these ethical concerns appeared originally in the mid 1980s with HIV testing. HIV is used as the “poster boy” in the drive for a cure for dementia, but it’s worth remembering the history of this situation too. Prior to an effective treatment, ethical concerns centred on the right of patients not to be tested, since an HIV diagnosis provided few medical benefits and posed serious risks of stigma and discrimination. The 3Cs were identified of “counselling, voluntary informed consent and confidentially”. But with the availability of ART drugs, there was accumulating evidence that ART can prevent transmission of HIV, strengthened public health arguments for scaling up testing. This led to a reformulation of guidelines, such as “Testing the gateway to prevention, treatment and care” when in 2007 WHO recommended PITC (provider‐initiated counselling and testing)

Nevertheless, the primary care setting in England provides unique opportunities for timely diagnosis of dementia. It has just been reported that GPs will be given more leeway to use their clinical judgement in deciding when to offer dementia assessments under a revamp of the specifications for the controversial dementia case finding DES. Under the agreed changes, GPs will still be required to offer the assessments to the same ‘at-risk’ groups of patients on their list, but only if the GP feels it is ‘clinically appropriate’ and ‘clinical evidence supports it’. At-risk groups again include patients aged 60 and over with vascular disease or diabetes, those over 40 with Down’s syndrome, other patients over 50 with learning disabilities and patients with neurodegenerative disease.

And, this is broadly consistent with approaches from other jurisdictions. Case finding remains the preferred approach to identifying patients with dementia and Alzheimer disease, according Australian experts, after a US advisory body found insufficient evidence to support universal screening for cognitive impairment in older patients.

Professor Dimity Pond, professor of general practice at the University of Newcastle, agreed that there was insufficient evidence for screening. Professor Pond said further a false-positive diagnosis could also cause a lot of distress to the patient and their family. “It’s a huge diagnosis to be made — it causes their family to worry about the need to start activating power of attorney, selling the house and putting them in a nursing home.”

Wilson and Junger themselves do not, however, specify whether patients, a third party, or society as a whole, should prioritise importance, and the utilitarian part of this economics discussion is lacking in temporal and geographical jurisdiction (in the same way that G8 hopes to meet its objectives likewise). J.S. Mill, in his celebrated essay “On Liberty”, argues that ‘there is no one so fit to conduct business, or to determine how or by whom it shall be conducted, as those who are personally interested in it’. But it is in reality difficult for an individual patient to be objective as to whether his/her health problem is more important than that of another patient or whether he/she deserves scarce resources in preference to others: it is impossible for an individual patient to make that comparison because of patient confidentiality, for example.

And policy makers need to be able to justify why memory problems are sufficient to trigger a particular care pathway, when a cough does not necessarily trigger full investigations for emphysema, or a headache does not trigger necessarily a full work-up for a brain tumour. The general rule for a ‘care pathway’ is “treating the right patient right at the right time and in the right way.”

I feel a fixation on ‘benefit’ as defined through the prism of the Pharma part of the health economy has led to a wilful neglect for wanting to find any beneficial outcomes in wellbeing from a timely diagnosis, such as improved design of the home, design of the built environments, and access to advocacy. But ultimately, regardless of the health economy and the lack of proper scrutiny of the issue, it is persons with dementia and their caregivers who I feel are suffering most, at the hands of the large charities and Big Pharma. GPs and medics are simply unable to say there’s “no benefit” for finding cases of dementia, whether it is screening or not, if the evidence base on living well with dementia is simply absent. Try to put the horse before the cart next time.

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