Solving the “information challenge” of rare disease diagnosis

Getting a diagnosis is often the biggest challenge facing a rare disease patient in the UK. We take a look at efforts from charities, the government and digital innovators to boost awareness of rare conditions among GPs and make the clinical pathway smoother for patients.

There are more than 150,000 people living with a rare neurological condition in the UK, which taken together means that these conditions aren’t actually that rare at all – and that’s just for one slice of the wider rare disease population.

This figure comes from a new report by the Neurological Alliance, which is calling for better treatment and care for these 150,000 people.

The report, ‘Out of the Shadows: what needs to change for people with rare neurological conditions’, includes extensive input from member charities of the Alliance, in addition to expert clinicians.

It points out that while the number of people living with rare neurological conditions equals the number who have other conditions, such as some types of cancer, people with rare neurological conditions are “all too often left behind when it comes to accessing the care and treatment they need”.

The authors note that it was likely that more than 200,000 people would be waiting for their first neurology specialist appointments by the end of 2020. These patients risk experiencing further delays and gaps in their support due to overstretched services and waiting lists exacerbated by COVID-19.

“Too often, these people experience slower diagnosis compared to more prevalent conditions,” notes Georgina Carr, chief executive of the Neurological Alliance. “Sometimes they don’t ever get a diagnosis at all.”

One case study in the report discusses a father whose progressive supranuclear palsy (PSP) was not fully confirmed until he had passed away.

Four in ten charities surveyed for the report said diagnosis of the people they represent takes, on average, three to five years.

One solution the report presents is the need for greater awareness of rare neurological conditions in primary care, so that people are more quickly referred on for a specialist assessment when they have neurological symptoms – and can benefit more quickly from available treatments and support.

The power of rare disease data

Carr hopes that, first and foremost, the report itself can act as a starting point for raising awareness of these conditions among GPs.

The document provides a list of known rare neurological conditions and information on the prevalence and incidence of each one, as well as patient groups that work in the area.

“We’d also really like to work with people like the Royal College of GPs to develop any additional training materials that might be helpful for their members in terms of identifying suspected neurological conditions,” Carr says.

“It’s unlikely that GPs are going to come across more than a handful of rare neurological conditions across their career. In addition, there are hundreds of these conditions, and expecting a GP, with everything else that they’ve got going on, to be able to pick up on the signs relating to each one is unreasonable, especially considering current pressures.”

This is where harnessing existing data can be helpful.

“The sector needs to work with primary care networks to identify any data that might exist about prevalence and incidence in their area and implement ‘red flag’ tools that can easily be integrated into GP systems.”

Of course, by their nature, rare conditions often do not produce much patient data – and the data that does exist is often inconsistent.

“There’s a lot of variation, for example in how NHS out-patient data is coded at a Trust level,” says Carr. “If we can build some consistency around that, we can be more certain about the quality of the data we’re getting from things like hospital episodes statistics.

“The GP databases that do exist now certainly don’t code effectively for very rare conditions, which means that we have no idea how much we’re spending on support for people with rare neurological diseases.

“We need to work together with the NHS, professional bodies and patient groups to identify what exactly we should be measuring. If we’re measuring the right things, we can fund services that are far more responsive.”

Carr adds that the enhanced data sharing arrangements that have come out of the UK’s COVID response are a great foundation to build upon once the pandemic is over.

Putting the haystack before the needle

It’s for these reasons that Rudy Benfredj, co-founder and CEO of Mendelian, frames the identification of rare disease patients as primarily an “information challenge” that is a “systemic issue” within healthcare.

“Healthcare systems have not been designed in a way that allows rare diseases to be found easily,” he says. “There are so many silos, and rare diseases often don’t easily fit within one particular specialty.

“Ideally, generalist GPs are supposed to funnel these patients to specialists, but it’s very difficult for them to get the right information in the right place and at the right time in order to do that.”

Like Carr, Benfredj notes that the right knowledge does exist – many rare diseases have expert clinicians associated with them, after all – it’s just that the information is not evenly distributed nor easily accessible to most doctors.

“The challenge is to democratise that knowledge at the GP level. You need to have the haystack to find the needle.”

It was these thoughts that led Benfredj and co-founders Fran Garcia and Dr Ignacio Hernandez Medrano to build their own ‘red flag’ tool for rare disease diagnosis, MendelScan – which aims to take a population health approach to the problem.

The company has partnered with the NHS to access medical records at scale.

The technology will use existing diagnostic criteria for rare diseases to filter these datasets, joining the dots that might indicate a person has a rare disease, then flagging to GPs the patients that warrant further investigation – as well as explaining what the clinical guidelines for the disease may be.

The tool is currently in the evaluation phase, where Mendelian will work on refining the criteria for flagging a potential rare disease patient.

“In practice, it will be comparing the signs and symptoms in the patient’s medical record with guidelines and information sources that have already been curated by experts,” says Benfredj.

Dr Myles Furnace, a former NHS physician and now global digital health partnerships lead at Ipsen – which has partnered with Mendelian on MendelScan’s implementation – says that the future of addressing rare diseases via digital will involve finding the right kind of integration between technology and clinical practice.

“We can’t just bring in technology for the sake of it. We need to understand that there are deep rooted problems in the healthcare systems that are producing many challenges for people with rare diseases. This is where innovators and entrepreneurs can come in.”

The key will be to ensure that tools like MendelScan are seamlessly integrated into a GP’s day-to-day workflow, he says.

“Providing this information in a transparent, easily-digestible format allows physicians to easily start supporting their patients and then get those outcomes.

“This is where we see a lot of digital health solutions break down. Physicians are quite sceptical beings – we need evidence, we need publications. We need to know that a technology works, and we need to know how it works. Often digital solutions lack explanations and transparency. We’ve seen that issue crop up a lot with AI tools.”

This education piece is particularly important considering that doctors may have never seen a particular rare disease before, says Benfredj.

“It’s important to not just throw an alert at a doctor saying ‘this patient might have this disease’. There needs to be more to it than that.”


Of course, the challenges rare disease patients face do not stop once the disease has been identified.

The Neurological Alliance’s report is also calling for better information to be provided to people with rare neurological conditions and/or their families on diagnosis as a matter of course. The organisation’s Patient Experience Survey 2019 found that only a third of people (or families) with rare neurological conditions are provided with written information about their condition at the time of diagnosis.

“Regardless of how prevalent your condition is, having something to take home and help you digest such huge news is incredibly important,” says Carr. “Especially as that information can help you access services such as patient support groups.”

From there, patients have to hope that there is a treatment available for their condition – but while Carr says that awareness of these diseases is often better among the life sciences industry than healthcare systems, pharma companies face many hurdles when attempting to develop treatments for rare neurological conditions – mostly related to market access.

“This market is actually expanding quite a lot,” she says. “The treatments that could, in theory, one day be available to people that currently have no options really are very promising.

“The real challenge is that there’s no guarantee that all of that research and development will come to fruition because of barriers in the assessment process, so there is inherently more risk than in other fields.”

Carr adds, though, that there are some encouraging elements in the NICE Methods Review, particularly in proposals around the evidence threshold required for assessment of orphan drugs.

Likewise, she says that the UK government’s Rare Diseases Framework is a great opportunity for the government to be ambitious in its goals of improving the treatment, care and support for thousands of people living with a rare condition across the country.

“What’s missing from that at the moment is concrete plans about who’s accountable for different aspects of the Framework. In England that’s particularly hard because we have a fairly fragmented health system.

“Sorting out an implementation plan, and, to be frank, putting investment behind it is going to be critical to success.”

She says there is an opportunity for the industry, patient groups, and the charity sector to work together as a community to put pressure on the government to set out its plans.

“Patient groups and pharma share many goals in terms of ensuring that access to effective treatment and care is as quick and as appropriate as it can be.

“Many patient groups that we work with are operating on a shoestring. If there are ways in which we could come together to articulate, for example, the standards of care that are required, or think critically about gaps in the current workforce for provision of treatment and support, that could be enormously useful.”

About the interviewees


Dr Myles Furnace was a physician in the NHS for 4 years before transitioning into the pharmaceutical industry in 2018. Since moving to industry he has worked in commercial, medical and digital roles. He is currently the global digital health partnership lead at Ipsen.


Rudy Benfredj, co-founder and CEO at Mendelian, is a computer scientist who graduated from Imperial College London with a degree in Engineering, during which he worked with the bioengineering faculty and the Logic and Artificial Intelligence department. He then moved to Tel Aviv to work at med tech diagnostics company In 2015 Rudy was part of a team of technologists and clinical doctors that founded Mendelian.


Georgina Carr is chief executive at the Neurological Alliance. Prior to this, Georgina was with the MS Society for over six years, overseeing their work to improve MS treatment, care and support. Georgina has a close connection to MS, and is passionate about raising the bar of neurological treatment, care and support across the country. Prior to working at the UK MS Society, Georgina worked on EU health policy for the consultancy Burson Marsteller.

About the author


George Underwood is the editor for pharmaphorum’s Deep Dive digital magazine. He has been reporting on the pharma industry for seven years and worked at a number of leading publications in the UK.

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