Improving patient experience: championing the outcomes that matter most to people with rare diseases

Patient experience should be at the core of rare disease policy and provision.

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The National Health Service provision for rare disease treatment is far-ranging and complex, including but not limited to: the funding of highly specialised research, readying the healthcare system for new medicines such as gene therapy, the recruitment and ongoing development of a specialist workforce, and actual care giving.

Such a broad and diverse range of priorities brings in to sharp focus the reality of providing equitable and at scale access to highly personalised medicines and support for smaller patient groups that while being individually rare, collectively make up a UK population of 3.5 million people living with around 7,000 different rare diseases.

Yet there is danger that the conversation on rare diseases is reduced to one where cost and affordability becomes the governing thought. The consequence of which is that rare disease is put in the “too hard bucket” and pushed to the margins of healthcare policy.

Such a reductive view may run the risk of side-lining additional, yet equally important measures in evaluating the success of delivering an expansive and ambitious set of priorities that reach and improve the lives of every person living in the UK with a rare disease.

Capturing the experiences of patients with rare diseases and using this insight to determine priorities and large-scale improvement, should be at the core of national rare disease policy.

Why? Rare disease patients’ concerns, anxieties, goals and aspirations are rarely used to define what good looks like. Yet patients have a unique perspective of their condition and the greatest appreciation of the challenges experienced at every stage of their care pathway. And only by listening to, and learning from, patients’ own experiences will the healthcare system, academia, policymakers and the pharmaceutical industry be able to use a common set of patient determined and patient-centred priorities to agree on how to deliver meaningful outcomes.

This proposition recently formed the basis of a round table event hosted by Pfizer and the New Statesman in Westminster.

Dr Monika Preuss*, head of genomics science and emerging technologies at the Department for Health and Social Care, noted in her opening address to the table that 2020 represents a “hugely important year” for the rare disease community, as it marks the end of the government’s strategy that was set out in 2013. Setting out a strategy for the future, she said, would require a “collaborative” approach and a “national dialogue” that brought together voices from government, academia, the pharmaceutical industry, healthcare providers, and, crucially, rare disease patients themselves.

Capturing patient experience

Meanwhile, Dr Jayne Spink, chief executive of Genetic Alliance UK, suggested that metrics used to capture patient experience should be based on the outcomes of most importance to patients. She said: “There is a real opportunity to look at the framework [around rare disease treatment] and view it not just as a series of [cost] priorities, but rather to build it around people. This is a journey from birth, or even pre-birth, to the end of life. We need to start looking at how we can improve the patient experience across that journey.”

Alistair Kent*, chair of the Rare Disease Advisory Group at NHS England, added, however, that what matters to a patient at any one time in their life is subject to change. “What matters more to someone at a young age might be different to what matters more for someone [who is] older. Patients’ needs will change according to their circumstances and what it is they want to be able to do.” 

Jagtar Dhanda, Pfizer’s healthcare policy and public affairs lead said that different organisations and actors tend to “compartmentalise” issues relating to rare disease provision. Instead, he proposed, the community should look to reframe the conversation around patient experience more broadly.

Poor care coordination, Dhanda highlighted, is a key challenge for treating rare diseases. As a rare disease may affect various aspects of a patient’s health, rather than just one in isolation, that may require visits to many different specialists. Managing multiple appointments better, he said, represents a priority for improving patient experience.

While Dhanda nodded to the need to “retain individuality” for patients, through personalisation, he, and others, were keen to apply more progressive “standards” and protocols for future medical approval processes and methods of care.

When it comes to gauging the quality of care and experience that a rare disease patient is receiving, Dhanda said, a “set of questions” that could apply “across the [rare disease] community” should be implemented to judge success. “There are lots of tangible, observable metrics [on which rare disease treatments and services can be judged]… Experiential things matter. Did you see a specialist? Where you treated with dignity and respect? Were you called by the name you prefer? These all matter to patients.”

Improving patient pathways and access to care

Anne Marie Morris, the Member of Parliament for Newton Abbot and chair of the All-Party Parliamentary Group on Rare Diseases, argued that it was important to put rare disease patients at the centre of the care pathway and build services around their needs. “The conversation needs to be centred on what’s right for patients… which is curative treatment and medicines, as opposed to in the old days, when we were mainly talking about just managing symptoms.” 

For Vivienne Parry, head of engagement at Genomics England, the data on rare disease patients could be leveraged better. She suggested the NHS should be investing heavily in the development of “apps” to better centralise key information about treatment, care and support on a digital platform as a way of improving experiences and outcomes.

Parry pointed out that the responsibilities attached to being the carer for someone with a rare disease “basically amount to a full-time job”, and she urged policymakers to do more to “coordinate” treatment and care. Parry said: “If there was a way of bringing all of that stuff together – the visit to the physiotherapist, the dietician and so on… If we could create a [digital] one-stop shop for patients and their carers, then it would contribute to a more holistic approach towards rare diseases.”

Accelerating access to treatment (and quality of life measures)

Kent said that there was a “knock-on” effect of rare disease treatments that needed to be taken into account when assessing their effectiveness – namely, their impact on people’s quality of life. He asked: “What difference can it [the approval of a new rare disease medicine or treatment] make to people’s productivity?”

Kent continued: “The difference between being able to walk 100 yards or 20 yards is huge. Maybe a new medicine might help you to sleep better, to function better. It could be the difference between working or not working for someone. So we shouldn’t be assessing things on the basis of cost or short-term success, we should be looking at whether or not it will be able to improve people’s overall quality of life and their capacity to contribute.”

Emily Crossley, co-founder and chief executive of Duchenne UK, a charity dedicated to funding and supporting research into this form of muscular dystrophy, and whose son was diagnosed with the condition,  said that the “psycho-social” impact of rare diseases not just on patients, but their families, should not be underestimated. “Beyond the initial devastation of diagnosis, there is the daily heartbreak attached to watching someone you care about suffer with their condition.”

Influencing policy development

Public awareness, Morris said, would improve perception of rare diseases, and in turn this could help to move these conditions up the policymaking agenda. In order for the government to be convinced to invest in rare disease treatments and services, she said it was important for patient-led organisations to work together to raise the salience of patient experience and present a clear case on the value of investment in this area.

Morris said that the concept of “value” needed to be examined. “When we talk about it [the level of priority attached to rare diseases], I think we need to be careful about what we mean,” she said. “Are we talking about value for money for the taxpayer? Are we talking about value for the patient? Is it value for their family?” Rather than narrowing the concept of value to one that is inextricably linked to cost, Morris said, more attention should be paid to the “bigger picture” – that is to say the impact that earlier rare disease diagnoses and treatments could have on the wider economy and society.

Liz Carroll, chief executive of the Haemophilia Society, highlighted some of her organisation’s research, which had found most patients and healthcare professionals alike would like the NHS to view rare disease treatment and care as a “package”. Carroll noted that patients’ priorities are treatment and care, whereas commissioners are focused, to a fault, on cost “containment”.

Carroll said: “We did a survey and the feedback we got showed that people didn’t unlink their access to medicine from the quality of their nurses and physios, for example. It’s all got to be looked at together.”

A lack of specialised clinical knowledge had to be combatted, Carroll continued, by hiring people “with the right knowledge in the right roles.” This would reduce the risk of misdiagnoses and unnecessarily disjointed referral processes.

Looking ahead

Ultimately, the round table concluded, patient experience should be a key and guiding principle in the future of rare disease treatments and services. Working out what people need and want, and how this impacts their quality of life and, by extension, functionality, is vitally important. As Parry put it, cost and value should not be “conflated”, and the rare disease conversation going forward, Preuss underlined, should include the full “spectrum” of stakeholders.  

*Note: both Dr Monika Preuss and Alastair Kent attended this event in their personal capacities, rather than on behalf of their organisations.

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