Diagnosis working group briefing on the lung disease diagnosis pathway
The Taskforce for Lung Health is a coalition of over 30 charities, professional bodies and patients with an interest in lung health. We came together in 2018 to develop and publish a new five-year plan to better prevent, diagnose and treat lung disease.
This briefing, published in May 2021, presents the key Taskforce recommendations for improving early and accurate diagnosis of lung disease and puts forward a single pathway for diagnosing the symptoms of lung disease, based around a diagnostic hub model, for use in primary care.
- Establish a new pathway with a diagnostic hub in every local health system to improve access to the right assessment for people with complex cases of breathlessness and cough
- Collect and publish data to establish a baseline for how long it takes people with respiratory symptoms to get a diagnosis and start treatment for different conditions
- Set targets to speed up the process where appropriate in line with current cancer diagnosis targets
Early and accurate diagnosis is critical to improving overall health and outcomes for many people with lung disease. Identifying the disease at the earliest stages offers the best chance to take measures to slow its progression, prevent further damage or for some conditions even cure the problem. This can add years to people’s lives and improve their quality of life significantly.
For example, being diagnosed early with COPD will ensure patients who smoke receive treatment for tobacco dependency; enables all patients to access pulmonary rehabilitation; and, with the use of flu, pneumococcal and COVID-19 vaccines, prevent some exacerbations. This may help them to stay active, live well and avoid unnecessary hospital admissions with the support of appropriate medications.
However, too often diagnosis is delayed or inaccurate. This leaves people waiting for longer before they can access the right treatment.
COVID-19 has exacerbated the issues outlined within this briefing. Urgent action is needed to implement a clear national pathway for diagnosing lung disease, which facilitates timely access to tests put on hold during the pandemic.
- NHS RightCare estimate that the average gap between estimated COPD prevalence and what is actually recorded is 67%, with huge variation between difference CCGs (26% to 107%). Within this there will also be diagnoses which are inaccurate and which were delayed.
- APF’s 2018 survey of nearly 800 IPF patients across the UK found that it takes, on average, 7 months to be diagnosed with IPF, with many patients waiting two years or more to receive a firm diagnosis (Action for Pulmonary Fibrosis, Patient Survey Report 2018: giving patients a voice (2019)).
There is no national data set for respiratory disease, so currently there is limited evidence on the extent of late diagnosis. The Taskforce’s Data Tracker has commissioned extensive research to help address this gap. Responses from both patient surveys and anecdotal evidence are highlighting that patients often have to wait a long time and return to their doctor repeatedly to get a diagnosis.
The reasons for late diagnosis of lung disease can be complicated. In some cases, people do not recognise their symptoms, so may not seek help because they believe that a cough or getting out of breath are just a natural part of getting older. Since the beginning of the COVID-19 pandemic, data from Asthma UK and the British Lung Foundation shows people have consistently avoided accessing care for not only fears of overburdening a stretched health system, but also for the overlap of symptoms of chronic respiratory conditions and COVID-19. Alongside improved diagnosis there is a need for the NHS, the government and Taskforce partner organisations to continue to raise awareness of lung disease so that everyone knows what the symptoms are and when to visit their doctor.
When people present in general practice with symptoms of lung disease such as breathlessness and cough, they often face a wait before being diagnosed. The Taskforce has found that the clinical pathways for people who have symptoms of breathlessness are not always adhered to, despite efforts to implement these. It is often unclear to both patients and professionals which tests or investigations are required and there is significant variation across the country in which tests are done. There are also capacity and training barriers to the health service being able to assure quality delivery of certain key tests such as spirometry.
Case study - Sarah Murphy
Sarah, who lives in Berkshire, first noticed that she was getting out of breath more than usual in April 2015. She found she was breathless running to the station, and it started to get worse. When she went to her GP, she was offered spirometry testing, but her results were normal and no more action was taken despite her symptoms not getting better.
Nearly two years later, she was told she had asthma and was prescribed inhalers, but her asthma nurse cast doubt on the diagnosis when none of the drugs were helping to control her symptoms.
By 2018 things were much worse. Sarah could hardly walk uphill without getting out of breath. A new GP finally suggested she might have scleroderma – a rare condition which can cause lung tissue to stiffen. She had further respiratory and cardiac tests including a CT scan, which showed scarring on her lungs. However, delays meant that she didn’t get to see a specialist.
It wasn’t until later that year that Sarah was finally seen by a heart consultant. By now, she got out of breath just walking and had to give up the job she loved, as a care worker for people with dementia. With the right cardiac tests, she was at last diagnosed with pulmonary arterial hypertension.
Sarah now uses oxygen at home to manage her breathlessness. She says: ‘I was told that I’d have had a better response to treatment if I’d been diagnosed earlier. I’m angry that the health service missed so many opportunities to fully investigate what was wrong, even though they had all the equipment ready to do the tests and my symptoms were only getting worse. I just felt like there was no one there for me.’
Asthma UK’s Annual Asthma Survey (2018) found that for almost a quarter of people with asthma it took more than a year to be diagnosed. It can take significantly longer to be diagnosed with severe asthma, which until more accurate diagnostics are available, can only happen in a severe asthma centre after years of trial-by-treatment and frequent asthma attacks or courses of oral steroids. A clear threshold for referral must be agreed and implemented.
There is also no gold standard diagnostic test for asthma and there are significant differences between which objective tests to use for diagnosis in commonly used guidelines. There is ongoing work to develop consensus in the respiratory community about using FeNO testing (fractional exhaled nitric oxide) for diagnosing asthma in primary care, and a programme of work within the Accelerated Access Collaborative on improving its uptake. It is vital that we overcome these structural problems to speed up and simplify the process for patients.
Far too many people with lung cancer are also diagnosed late. Almost half of lung cancers are diagnosed at stage 4, when survival rates are poor. In fact, 35% of cases are diagnosed when people present as an emergency because they are so unwell, making it currently the most common route to diagnosing lung cancer. This means that huge numbers of people each year are missing out on the chance of better and potentially curative treatment. We are encouraged by NHS England’s Targeted Lung Health Check programme, but more must be done to support national improvements in early diagnosis for lung cancer.
Additionally, patients can experience a delay to their diagnosis when the diagnosis is not made in a typical way. If a pathway for diagnosis is not followed, it can be easy for patients to fall between the cracks and not get access to the treatments necessary to manage their condition.
Case study - Eddie
Eddie, 60, a retired chief technologist, is living with chronic obstructive pulmonary disease (COPD), bronchiectasis and sleep aponea.
Eddie was diagnosed with his lung conditions in 2015 following a trip to hospital for heart problems. He was referred to a respiratory team after a spirometry test, and at that point his consultant told him he had sleep apnoea and he was given a CPAP machine to help him at night.
However, what wasn’t made clear to Eddie was that according to his records, he had also just been diagnosed with COPD and bronchiectasis.
Despite experiencing symptoms, Eddie didn’t find out he had COPD until two years later when his GP was reviewing his records in advance of a surgical procedure, and told Eddie that he should inform his surgeon about his COPD diagnosis because this put him at increased risk.
Almost two years after the diagnoses of COPD and bronchiectasis were made in his medical record, Eddie’s GP talked to him about his diagnoses, referred him for pulmonary rehabilitation and put him on appropriate inhaled treatment to help manage his symptoms.
Finally, there are no timed targets for diagnosing lung disease, in contrast to cancer where there is a clear expectation of being referred for tests and receiving results within a short timescale. These targets are not always met, but they act as a standard to aim for and an incentive for individual health professionals and local systems to diagnose as quickly and efficiently as they can. The Taskforce strongly believes that similar targets should be introduced for lung disease.
People with respiratory symptoms are often diagnosed inaccurately, leading to further delays in accessing the most appropriate treatment and more time spent with debilitating symptoms.
It is common for under-diagnosed diseases like bronchiectasis or interstitial lung disease (ILD) to be wrongly diagnosed as asthma or COPD, with a correct diagnosis only being made when patients return to their doctor and push for further investigation. For example, a survey of idiopathic pulmonary fibrosis (IPF) patients by Action for Pulmonary Fibrosis found 35% said they were initially diagnosed with a different condition before getting the diagnosis of IPF (Action for Pulmonary Fibrosis, Patient Survey Report 2018: giving patients a voice (2019)).
Even for very prevalent lung conditions like COPD and asthma, a diagnosis is often still made on the basis of symptoms, patient history and an examination rather than through appropriate tests and assessment. This can lead to incorrect diagnosis, particularly when people are living with more than one lung condition.
Both under- and over-diagnosis of asthma for instance is widespread and can lead to significant risks for patients. It is estimated that asthma is over diagnosed in approximately 30% of cases, but also underdiagnosed in 30% of cases.
NICE guidelines are also clear that the diagnosis of asthma should be made using FeNO, spirometry and peak flow, but these tests may not indicate asthma unless the patient is exacerbating and FeNO can be affected by extrinsic factors, such as diet and smoking. Monitoring the variability of peak flow over 2 to 4 weeks can help if there is diagnostic uncertainty, but there is currently not a consensus between asthma guidelines about using FeNO in primary care and uptake of this objective test is expected to be low.
The full range of tests needed to diagnose all lung diseases can be difficult to provide within primary care and we recognise that local health systems can struggle with time and resources to give every patient the investigations they need. A clear, national pathway with a diagnostic hub model would provide clarity and set expectations for patients about what tests should happen and where.
Case study – Julie Reynolds
I have had asthma since I was a child. At about 11, I started showing signs of asthma when I had chest infections and exercised. I was given oral steroids, a preventor inhaler and reliever inhaler from an early age. I remember receiving my first blue inhaler and having to use it out and about when playing - we played a lot outside. I was given my brown inhaler when I had an infection, and when I was a lot younger I did stop taking this when I wasn’t infected, but my mindset changed when I was older and having exacerbations.
As I got older my symptoms got worse. About 15-18 years ago I contracted pneumonia and was poorly for a long time. I was diagnosed with adrenal insufficiency soon afterwards. Now, I have difficulty controlling my asthma and have to avoid infections as these can leave me housebound or result in hospital admissions.
My diagnosis journey has been a varied one. I have been misdiagnosed as having COPD by my GP using spirometry when my lungs were inflamed. This was overturned by a chest consultant when I had lung function tests taken by a specialist research nurse in hospital when my lungs weren’t inflamed or full of mucus. I have been referred to chest specialists in the NHS and privately, to be tested for bronchiectasis, COPD, and cystic fibrosis.
I have recently been referred to a severe asthma centre because of my frequent infections and subsequent hospital admissions over the last year. I am still waiting at 47 years of age to find out what my full diagnosis is.
NICE guidelines are clear that the diagnosis of COPD requires post-bronchodilator spirometry for people who have a risk factor such as smoking alongside symptoms. However, QOF data tells us that, on average, only 80% of patients on COPD registers have a record of having received this test, with significant variation – some CCG areas were as low as 70%, and nowhere reported being above 90%.
When spirometry is performed, it is not always interpreted correctly and this is not captured in the QOF values. The National Asthma and COPD audit in Wales 2014–15 found that where spirometry had been performed in a COPD diagnosis, in a quarter of cases the results were not consistent with COPD, suggesting a significant rate of misdiagnosis. Health professionals carrying out and interpreting diagnostic spirometry should be trained and accredited. The Taskforce was therefore pleased that NHS England originally committed new funding for spirometry training in local areas with the greatest need through the NHS Long Term Plan. However, the process for allocating this funding was indefinitely postponed as a result of the pandemic.
Symptoms of lung disease – such as breathlessness – can also be related to heart conditions, mental health, or caused by obesity. This can make it difficult to make a firm diagnosis, and patients may spend months being assessed by respiratory specialists only to find out they have a heart condition, or vice versa, and often both. This is not a good use of patient time and can be stressful and frustrating.
To help overcome these challenges, the Taskforce has therefore proposed a roll-out of a new diagnostic pathway so that patients can access tests and support more efficiently.
A pathway for better diagnosis
The Taskforce has worked together to consult with patients, health care professionals and NHS staff to develop the basis for a pathway, based around a diagnostic hub model.
A range of pilot projects have demonstrated that this model is practical and effective, and is successful in diagnosing even rarer lung diseases accurately. It is now time to use this model across the country.
Our ambition is for all patients who present with symptoms of lung disease to have a clear and efficient process for getting a diagnosis within a reasonable time frame. The diagnostic hub model will vary locally and may need to be commissioned across a wider footprint depending on local need. In some areas, such as rural parts of the country, a ‘network’ may be a better fit than a ‘hub’ under one roof.
The pathway should account for varying points of entry. Patients might enter the pathway when they approach their GP independently to report breathlessness or a chronic cough. Alternatively, they might be referred by a pharmacist or other health care professional. In areas with a Lung Health Check pilot, they could be referred from this programme if they have a suspected non-cancer lung condition.
Health care professionals in primary care should make an appropriate clinical assessment including history and examination, and arrange appropriate tests such as relevant bloods, peak flow, ECG, chest X-ray and spirometry. Not all of these tests will take place in the practice and patients may be referred elsewhere, for example to a community diagnostic hub, or for direct access to CT. In many cases, they will be able to make a diagnosis of asthma or COPD and start relevant treatments.
Where lung cancer or ILD is suspected, patients should be considered through a CT-first pathway, in line with the recommendations in the soon to be published Taskforce position paper on CT first. For lung cancer, the rest of their diagnosis journey should be in line with the National Optimal Lung Cancer Pathway. Where ILD is suspected, the relevant ILD pathway should be urgently followed following rapid access to CT.
In some cases, it will not be clear what the diagnosis is. For instance, a patient could have normal spirometry but continues to present with symptoms, or they may not be responding as expected to prescribed medication. In these cases where all appropriate steps have been taken, such as monitoring patients’ adherence to medication, the patient should be reevaluated and if appropriate, referred to a diagnostic hub for next level advice and specialised investigations.
The hub would be commissioned locally according to a national service specification. At a diagnostic hub, patients would be offered a range of tests in one location, to be further consulted on, but which could include: including post-bronchodialtor spirometry, FeNO, gas transfer and echocardiogram, if blood tests indicate possible heart failure.
They should also be assessed by an appropriate multi-disciplinary clinical team which should include cardiovascular and mental health specialists to confirm if their symptoms are caused by a heart condition or anxiety, rather than a respiratory condition.
In the majority of cases, the patient will be offered a diagnosis and a package of support as soon as possible, with rapid follow up from general practice or a community team to help manage their condition. This could include referral for pulmonary rehabilitation, smoking cessation support, weight loss management and mental health support. For a small number of people, onwards referral directly from the diagnosis hub to secondary or tertiary (specialised) care will be necessary. This could be if severe asthma or an ILD are suspected, for example.
Spotlight on asthma
• Objective tests should be used for diagnosing asthma following NICE guidelines: peak flow, spirometry and FeNO
• Since diagnostic tests for asthma are not completely reliable there may have to be some trial of treatment. However, if someone does not respond at all to low/moderate inhaled corticosteroids (ICS) they should be referred to a diagnostic hub. If someone needs high dose ICS or has more than two asthma attacks (or courses of oral steroids) within 12 months they should be referred to specialist care according to BTS guidelines.
Case study – Wessex Signs of Breathlessness Project
Run by the Wessex Academic Health Science Network, this pilot aimed to find a generic approach to diagnosing based on breathlessness.
Patients were identified with breathlessness symptoms, but no diagnosis, using GRASP case-finding suite tools of in primary care. They were invited to attend ‘carousel’ practice clinics run by specialist respiratory secondary care MDTs working in partnership with primary care HCPs resulting in same day accurate diagnosis and patient education.
Out of 42 patients reviewed: 97.2% were given a confirmed respiratory diagnosis resulting in an 89% reduction in exacerbations. Patients had greater confidence in managing symptoms and 100% would recommend the clinic.
Making it happen
We recognise that this pathway is indicative and will need to be adapted to suit local health systems. Some CCGs or STPs/ICSs will already have similar pathways in place that could be built upon and improved. Other areas may wish to tailor the pathway to best meet the needs of their population, or to make best use of the skills of their workforce.
In most health systems, there should be scope to implement a pathway which follows this model. In order to start rolling it out, we recommend that...
- Endorse in principle this diagnostic pathway
- Pre-diagnosis breathlessness pathway working group to develop a pathway based on this model that works for respiratory patients, for local health systems to use
- Provide funding to support local health systems set up pathway and diagnostic hub models
- Establish data collection methodology to measure and publish time to diagnosis and starting treatment for respiratory patients
Integrated Care Systems and Respiratory Clinical Networks:
- Integrate the pathway in local health systems as part of the plans to implement the NHS Long term Plan
- Integrate the pathway with workforce planning so that there are appropriately trained staff to deliver the tests
- Engage with patient groups and health care professionals to ensure the system meets the needs of local stakeholders
For further information, please contact
Interim Senior Policy and Project Manager, Taskforce for Lung Health