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What are the opportunities and challenges in the UK rare disease environment?

Following the the launch of England’s first Rare Diseases Action Plan, Craig Bradley explores the opportunities and challenges for pharma marketers in the UK rare disease environment. 

Around one in 171 people are likely to be affected by a rare disease at some point in their lives1, which amounts to 3.5 million people in the UK2 and 30 million people across Europe3. Looking behind the numbers would no doubt reveal a multitude of patient voices, and also their wider support networks of family, friends, and carers who are also greatly affected by rare disease too; in totality rare disease isn’t actually so rare in terms of impact.

Alongside this, the spectrum of rare disease is vast, with current estimates suggesting there are around 7,0002 rare diseases identified and recognised. Each individual rare disease then, by definition, has a small patient population which means the affected patients don’t necessarily receive the attention and support they need from the healthcare system. Running through all of this there is a distinct human element, and a patient-centric approach is essential.

“A comprehensive understanding of the patient journey and the specific therapy area ecosystem is required”

Challenging journey

In order to understand the complexities of rare disease marketing we have to understand the challenging journey a patient with a rare disease faces when seeking diagnosis, treatment or a wider intervention. When a disease is rare, knowledge of the symptoms, or collection of symptoms, and what that could indicate disease-wise is rare too, and a generalist healthcare professional (HCP) may not be aware of the signs associated with the rare disease – ultimately not realising the disease is present in a patient.

So, obtaining an accurate diagnosis of a rare disease can be a lengthy and arduous process2. Looking at the approaches marketers can take, traditional methods of pharmaceutical marketing aren’t generally as effective for rare disease for a number of reasons. The patient pool for rare disease is considerably smaller, which means finding patients who have been diagnosed with a rare disease can be a complicated process. This also applies to the number of treatment centres and associated expert HCPs.

By definition, clinicians specialising in a rare disease are few and far between and any one individual can be responsible for a large patient population. The ecosystem for a rare disease includes not only the HCPs referring to expert centres, but a much wider and diverse group of stakeholders including the multidisciplinary team (MDT), payers and policymakers, plus patient advisory groups who play a vital role in representing the patient voice. A comprehensive understanding of the patient journey and the specific therapy area ecosystem is required. A thorough mapping of this ecosystem allows us to form a detailed picture of the different stakeholders involved, alongside the individual patient journeys and flows, which ensures interactions can be tailored to meet their needs at each touchpoint. Once this level of understanding is attained there’s a real opportunity to become a real partner to the key stakeholders, with tangible opportunities to improve patient care.

Omnichannel approach

In general terms, COVID-19 has been a catalyst to the pharmaceutical industry embracing more divergent, omnichannel approaches to engagement. And specifically for rare disease an omnichannel approach to customer marketing can be especially effective in helping us reach our audience because it focuses on ways to engage HCPs in a manner that allows the delivery of on-demand personalised information, obtained through their preferred channels at their preferred time. This approach requires a deep understanding of customers and a shift from a product-centric to customer-centric way of thinking, operating and delivering. Some rare diseases are only treated in a tiny number of centres, with a very small number of expert clinicians, and a limited range of MDT members to engage. For the rare disease focused marketer, these are very defined audiences, where closer relationships must be nurtured. It’s less about numbers and overall noise, in contrast to marketing efforts for larger scale therapy areas. Effective rare disease marketing requires an ethical, human-centric approach, with special focus on providing HCPs with the support, resources and information they need to better understand, care for, or treat a rare disease and the patients in their care.

“There’s a real need to ensure engagement is personalised and relevant”


In terms of our operating environment in the UK, the Government has recognised that there are many challenges for rare disease patients and their families, publishing the UK Rare Diseases Framework2,4 in January 2021. This framework aims to ensure the lives of people living with rare diseases continues to improve, building on the commitments made in the UK Strategy for Rare Diseases in 2013 and the work that has been done to date, whilst highlighting the key focus areas of speeding up diagnosis, increasing awareness of rare diseases among HCPs, better co-ordination of care, and improving access to specialist care, treatments and drugs. The evaluation and access to medicines treating rare disease can still pose a challenge for the pharma marketer and their wider cross-functional team.

There are three main obstacles to accessing treatments4:

  • The use of the medicine being restricted to segmented patient populations.
  • Delays in patients accessing the treatment due to health technology assessment (HTA).
  • Reimbursement challenges, or the medicine not being reimbursed for use at all.

In working with smaller numbers of patients in rare disease, the Association of the British Pharmaceutical Industry (ABPI)4 notes there is often uncertainty in supporting data sets for new treatments, which means that obtaining a positive HTA outcome can be challenging. Although a small subset of medicines for very rare conditions meet the strict criteria to follow the Highly Specialised Technology evaluation (HST) process, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single Technology Appraisal (STA) process.

And as NICE plays the vital role of trying to maximise the value that the NHS can achieve for patients in England, given the limited total NHS budget available, it’s often tough to demonstrate value for individual rare diseases. Even getting to launch for a treatment in a little-known, often neglected condition, is a different proposition than launching in more common therapy area. There does appear to be positive movement on this front with the Innovative Medicines Fund (IMF)5, which looks to support patients with any condition, including those with rare diseases, to get early access to the most clinically promising treatments where further data is needed to support NICE in making final recommendations around their routine use in the NHS. For the marketers and their teams there’s an increased emphasis on wider system value demonstration, plus gathering and usage of real-world evidence to support that.

Personalised and relevant

Overall, to engage key HCPs working in rare disease, and ultimately help ensure patients and the wider ecosystem can access the support and solutions they need, pharma marketers working in rare disease must have a granular understanding of both the met and unmet needs plus the patient journey specific to that therapy area. A move toward an omnichannel approach, even for rare conditions, can also be of benefit for engagement as it enables the small cohort of treating HCPs to be engaged in a way that appeals to them, accessing the information and resources they need when they want via the platform of their choosing. As we’re dealing with such small numbers of key stakeholders there’s a real need to ensure engagement is personalised and relevant, in a way that is different to higher prevalence therapy areas. It certainly feels that there is currently more momentum than ever around the recognition of rare diseases as a whole in the UK to improve the lives of those living with rare diseases, and industry can definitely play a role in helping fulfil these priorities.


1 What is a Rare Disease? www.raredisease.org.uk (accessed March 2022)

2 UK Rare Diseases Framework. www.gov.uk/government/publications/uk-rare-diseases-framework (accessed March 2022)

3 European Commission, Rare diseases www.ec.europa.eu/health/non-communicable-diseases/steering-group/rare-diseases_en (accessed March 2022)

4 ABPI, Rare Diseases. www.abpi.org.uk/rare-diseases (accessed March 2022)

5 NHS England. www.england.nhs.uk/2021/07/nhs-england-announces-new-innovative-medicines-fund-to-fast-track-promising-new-drugs/ (accessed March 2022)

Job Code C-ANPROM/GB/IG/0076. Date of preparation March 2022.

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Craig Bradley
Craig Bradleyhttps://www.takeda.com/en-gb/
Craig is Head of Marketing Immunology & HAE at Takeda, and was PM Society Chair 2017-2020.


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