Bridging the gap: health inequalities and rare diseases
SPONSORED CONTENT
Written by:
Lynn Clay, head of specialty care at Pfizer UK
Everyone deserves a fair chance at living the healthiest life possible and having access to the right healthcare. Yet, for those living with rare diseases, this can often feel out of reach. This is what we refer to when we talk about health inequalities—an avoidable and unfair difference in health or access to healthcare between different people. 1
As part of my role as head of specialty care at Pfizer UK, the health inequalities faced by people in the UK living with rare diseases is something I hear about all too often. It is common for people to experience delays in diagnosis, a lack of co-ordinated care, and a limited understanding of their condition both within the healthcare system and society at large.2 These inequalities are often worse for people who are already disadvantaged by factors like age, their ethnicity or where they live. An example of this can be seen in people living with sickle cell disease, a rare blood disorder most common in people with an African or Caribbean family background, who often report poor standards of care and racial discrimination when accessing medical services. 3,4
As a society we must keep working to change this and truly understand and respond to the experiences of people living with rare diseases.
Seeking answers: the journey to diagnosis
Many people living with rare diseases experience the journey to diagnosis as long and difficult—with the average time to diagnosis being 5.6 years. 5
While positive strides have been made through the Rare Disease Framework and the introduction of the Newborn Genomes Programme, there is now an opportunity to go further. Steps that are now urgently needed include targets around improving diagnosis, continuing the ongoing roll-out of syndrome without a name (SWAN) clinics, which support those with conditions that are so rare they frequently remain undiagnosed, and the delivery of the promised health inequalities toolkit for highly specialised services.
Ensuring equitable access to treatment and care
Innovative treatments, such as gene and cell therapies or ribonucleic acid (RNA) interference therapies, have the potential to offer hope for patients—and equitable access is essential. Reimbursement can prove challenging for some rare disease treatments, for instance, due to uncertainties over long-term patient outcomes at the point of appraisal, short-term affordability, or the need for ongoing data collection. It is important that we all work together—including our industry, the patient community, the NHS and the Government‒— to overcome these hurdles and develop practical solutions. This will enable the rapid adoption of new treatments indicated for rare conditions as they become available.
In addition, I believe there is an important contribution that companies like Pfizer can make by ensuring that patients have more of a voice in our medicines development process. Putting patients at the heart of UK clinical trials is one of many areas of priority for us. Patient insights inform everything from how we design our trials to the language we use in trial-related documents to ensure they are as accessible and relevant as possible. 6
Where you live can also be a factor in access to specialist care. A lack of specialist centres around the country has created a postcode lottery when it comes to rare diseases. A recent study found that only 32% of people living with rare diseases were accessing a specialist centre. 7 The Genetic Alliance recently called for the NHS to better support patient access to specialist services, including through remote support services, which would be a positive step forward. 8
Supporting every aspect of life affected by rare disease
Beyond medical care, rare diseases impact everyday life – from financial stability to mental health. In a recent study, 90% of people living with a rare disease who were surveyed reported feeling worried/anxious, stressed or feeling low/depressed due to their condition. Less than a quarter felt healthcare professionals considered mental and physical health as equally important, with almost half never having been asked about mental health by their healthcare professional.9
Inequalities faced by people with rare diseases and their carers can also be seen in the workplace. A study by Rare Disease UK found that 66% said their rare disease, or caring responsibilities, affected their ability to hold paid employment. Respondents even described feeling forced into early retirement or reduced hours because they felt ‘unreliable’. 10
More advocacy is needed to dismantle the inequalities faced in day-to-day life, such as driving increased awareness in the workplace and integrating mental health support into care plans.
A vision for a fairer future
As our new Secretary of State for Health sets out his vision for the NHS, it is clear there is a significant opportunity to close the health gap in rare diseases. At Pfizer, we are dedicated to advancing healthcare equity and supporting the rare disease community, working together to advocate for better care and support.
One recent project we are proud of is our social media listening study in sickle cell disease. Taking place over 12 months, our aim was to gain valuable information about experiences and unmet needs, and ultimately help to reduce inequalities faced by people living with the condition. 11 More broadly, the Pfizer Foundation makes investments that seek to improve health systems and increase access to quality healthcare for underserved populations around the world. 12 In addition, through An Accord for a Healthier World, Pfizer aims to provide access to the full portfolio of medicines and vaccines for which we have global rights (both current and future products) on a not-for-profit basis to 1.2 billion people living in 45 lower-income countries around the world.12
Closer to home, I believe that by listening to the voices of the community and working collaboratively across the health system, we can together create a brighter and fairer future for the 3.5 million people living with rare diseases in the UK. 13
This content has been paid for and developed by Pfizer UK
PP-UNP-GBR-10860 Preparation date: November 2024
References
[1] NHS. What are healthcare inequalities? Available at: https://www.england.nhs.uk/about/equality/equality-hub/national-healthcare-inequalities-improvement-programme/what-are-healthcare-inequalities Last accessed November 2024.
[2] Genetic Alliance UK. Better diagnosis and care for rare conditions. Available at: https://geneticalliance.org.uk/campaigns-and-research/better-diagnosis-and-care-for-rare-conditions/ Last accessed November 2024.
[3] NHS. Sickle Cell Disease. Available at: https://www.nhs.uk/conditions/sickle-cell-disease/ Last accessed November 2024.
[4] Sickle Cell Disease Society. No one’s Listening Report. Available at: https://www.sicklecellsociety.org/wp-content/uploads/2021/11/No-Ones-Listening-Final.pdf Last accessed November 2024.
[5] Genomics Education England. Diagnostic Odyssey in Rare Disease. Available at: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/the-diagnostic-odyssey-in-rare-disease/ Last accessed November 2024.
[6] Pfizer.co.uk. Why putting patients at the heart of Pfizer UK’s clinical trials continues to be a priority. Available at: Why putting patients at the heart of Pfizer UK’s clinical trials continues to be a priority | Pfizer UK Last accessed November 2024.
[7] Specialised Healthcare Alliance. Rare Diseases, Common Inequalities: Bringing rare diseases into the health inequalities agenda. Available at: https://shca.info/wp-content/uploads/2023/10/SHCA-Health-Inequalities-Report.pdf Last accessed November 2024.
[8] Genetic Alliance UK. Manifesto for Rare Diseases. Available at: https://geneticalliance.org.uk/wp-content/uploads/2024/03/Genetic-Alliance-UK-and-SHCA.-Manifesto-for-rare-diseases.pdf Last accessed November 2024.
[9] BMC Health Services Research. Mental heath care for rare disease in the UK. Available at: https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-022-08060-9 Last accessed November 2024.
[10] Rare Disease UK: The Rare Reality: an insight into the patient and family experience of rare disease. Available at: https://geneticalliance.org.uk/wp-content/uploads/2024/02/the-rare-reality-an-insight-into-the-patient-and-family-experience-of-rare-disease.pdf Last accessed November 2024.
[11] Shastri O et al Understanding the Experiences of Patients with Sickle Cell Disease and Their Caregivers By Social Media Listening in the UK. Blood 2023; 142 (Supplement 1): 1057.
[12] Pfizer. 2023 Impact Report. Available at: https://s28.q4cdn.com/781576035/files/doc_financials/2023/ar/Pfizer_2023_Impact_Report_11MAR2024.pdf Last accessed November 2024.
[13] Department of Health & Social Care. England Rare Diseases Action Plan 2024. Available at: https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2024/england-rare-diseases-action-plan-2024-main-report Last accessed November 2024.
