Rare diseases – the future is 5P medicine - Thoughts from the Centre | Deloitte UK

By Márcia Costa, Manager, and Karen Taylor, Director, Centre for Health Solutions

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Rare Disease Day (RDD) is celebrated on the last day of February each year, this year it’s the 29th, a rare day that appear only once every four years! RDD aims to raise awareness of the needs and challenges of the 300 million or so people across the world who have a rare disease and to advocate for more equitable social opportunities, healthcare access, diagnostics and therapies. Rare diseases are defined as conditions that affect less than one in 2,000 people worldwide with current estimates suggesting there are more than 7,000 distinct rare diseases, affecting 3.5 - 5.9 per cent of the world’s population. In the UK, around 3.5 million people live with a rare disease.1 Due to this low prevalence, the medical knowledge on most rare diseases is low, and the diagnosis process long and challenging. Once diagnosed, only five cent will have a suitable treatment.2 However, as highlighted in our Future of Health in Europe report, advances in diagnostics, most notably in genomics and data analysis, and the move to more predictive, preventative, participatory, personalised and precision (5P) medicine means this is improving. In this week’s blog, we explore developments in diagnostics and treatments that could transform the rare disease landscape.

Overcoming the unique challenges presented by rare diseases

In the UK, 80 per cent of rare diseases have a genetic cause, with the remainder caused by factors such as rare infections, immune deficiencies and health hazards. Three-quarters of rare diseases affect children with more than 30 per cent dying before their fifth birthday. For people living with a rare disease, getting the right diagnosis is key to appropriate management of their condition. It can enable greater treatment choice and reproductive decision making and can link individuals to vital information and support through patient organisations. However, getting the right diagnosis is consistently highlighted as one of the most significant challenges, involving multiple referrals, inconclusive tests and sometimes incorrect diagnoses before a final diagnosis, with some never receiving one.3

A lack of awareness among healthcare professional is also a key challenge as is access to specialist medial care and co-ordination of care. These challenges are due to a wide range of factors, including the widely varying and often confusing array of symptoms that can be common to other conditions. Consequently, rare disease patients and their families can face a lifetime of complex care and living with a rare disease can also have a huge impact on someone’s education, financial stability, mobility and mental health. It is vitally important that the voice of rare disease patients is included when developing solutions.4

Importantly, improving understanding the causes of rare diseases is a crucial first step to develop appropriate diagnostics and treatments. Because the majority of rare diseases have a genetic cause, progress in omics and AI has enabled some progress in diagnostics. Next-generation sequencing, for example, was a game changer for rare diseases being considered now a first-tier diagnostic tool for due to its high accuracy and cost-effectiveness.5 More recently, diagnosis using whole-genome sequencing is being deployed.6,7 As advances in understanding the human genome evolve at pace, alongside the capacity to collect, share and analyse large amounts of health data, the use of AI, diagnostic will  become faster and more accurate.

Translating research to treatments

Understanding the causes of rare diseases can expedite the development of more treatments. For example, innovations in genomics with gene therapies – that add, remove, or change parts of a person’s DNA – and cell therapies - used to place healthy cells into the body in replacement of diseased ones - hold great potential to not only treat but also cure patients given these therapies address the causes of the disease instead of just the symptoms.8

In our 2021 blog, we looked at the potential of cell and gene therapies in treating rare diseases, but also at the market access challenges. Besides the small patient population, the high costs of R&D, manufacturing and transport, limited datasets and surrogate endpoints to assess efficacy, and the fact that benefits might not be seen for many years, can be a barriers to investing in cell and gene therapies. Nevertheless, the pipeline for such products has improved significantly in the past two years as the success in harnessing emerging technologies, individualized therapies and artificial intelligence (AI) is helping to drive meaningful progress for the millions of people who have a rare disease.9

In February 2023, the first baby in the UK with metachromatic leukodystrophy, a condition that affects nervous system and organs resulting in a life expectancy of between just five and eight years, received the first dose of Libmeldy, a one-off gene therapy.10 And in November 2023, the UK has become the first country worldwide to approve gene editing as a potential cure for two inherited blood disorders.11

Historically, however, there have not always been sufficient incentives for research and development into such treatments, given the small pool of patients. Therefore, understanding and managing regulators’ and payers’ expectations with a focus on value proposition and finding innovative contracting solutions can help moving some of these therapies forward.

Tackling rare diseases in the UK

In January 2021, the UK Rare Diseases Framework set out the national vision across the four nations to improve care of patients with care diseases, including to reduce health inequalities. The framework identified four priorities:

  • help patients get a final diagnosis faster, investing in research for improved screening programmes (including genetic testing) and diagnostic tools;
  • increase awareness of rare diseases among healthcare professionals and genomic testing and digital tools that enable a quicker diagnosis and better care;
  • better coordination of care through technology and digital tools (e.g., telemedicine and virtual multidisciplinary team meetings), which is crucial as management of these patients often requires the expertise of multiple specialists;
  • improve access to specialist care, treatments and drugs, including creating an environment that foster innovation and attracts top talent to develop solutions to treat rare diseases.12

Yesterday, February 29, the UK government published its England Rare Diseases Action Plan 2024: main report, a follow up from the 2022 edition that outlined 16 actions and the 2023 edition that outlined further 13 actions. Two important achievements have been made since the previous year:

  • establishment of the £14 million UK Rare Disease Research Platform, a network of experts across the county made up of a central coordinating hub and 11 specialist nodes based at different universities, to accelerate understanding, diagnosis and therapy;
  • mapping of the rare disease research landscape.

Moreover, between 2016 and 2021, £1.1 billion was invested in rare diseases research and 500,000 patients participated in research studies. Many rare disease studies have been funded by more than one organisation, but overall industry is the largest contributor (49.3 per cent).13

Conclusion

The above updates on what is happening in the ‘odyssey’ to detect, diagnose and treat more people with a rare disease shows that there is room for an increasing optimism that patients and their families affected by rare and devastating diseases can expect to receive better care and treatments. While there is much still to do, we believe that the scientific and technological breakthroughs we envisaged in our Future of Health in Europe report, will increasingly enable 5P medicine, with omics data providing a particularly important lever in relation to rare diseases. Furthermore, that identifying targets for drug development, can be substantially accelerated with AI, and continuously investing in research to understand the causes of rare diseases, should make it possible to fast track therapeutics to address the unmet needs, and save and improve the quality of lives, of millions of people with rare diseases across the world.   

Karen pic

Karen Taylor - Director, UK Centre for Health Solutions

Karen is the Research Director of the Centre for Health Solutions. She supports the Healthcare and Life Sciences practice by driving independent and objective business research and analysis into key industry challenges and associated solutions; generating evidence based insights and points of view on issues from pharmaceuticals and technology innovation to healthcare management and reform.

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Márcia Costa - Manager, Centre for Health Solutions

Márcia is the research manager for healthcare in the Centre for Health Solutions, providing support and expertise to develop solutions to overcome today’s healthcare challenges. Working with the team, Márcia develops insights based on rigorous data analysis to improve outcomes for patients and increase health systems efficiencies. Originally from Portugal, Márcia has an MSc in biomedical engineering and biophysics and a PhD in cancer research. Márcia has previously worked in publishing for an oncology journal in London. Márcia is passionate about health equity.

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[i] https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2023/england-rare-diseases-action-plan-2023-main-report

[ii] https://www.weforum.org/agenda/2023/03/rare-diseases-changing-the-status-quo/

[iii] https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework

[iv] https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework

[v] https://emea.illumina.com/areas-of-interest/genetic-disease/rare-disease-genomics.html

[vi] 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM

[vii] https://www.genomicseducation.hee.nhs.uk/blog/how-has-whole-genome-sequencing-transformed-the-investigation-of-rare-disease/#:~:text=By%20testing%20for%20thousands%20of,of%20patients%20with%20rare%20diseases.

[viii] https://www.frontiersin.org/articles/10.3389/fnmol.2021.695937/full

[ix] https://newsnetwork.mayoclinic.org/discussion/advancing-rare-disease-breakthroughs-with-genomics-ai-and-innovation/

[x] https://www.england.nhs.uk/2023/02/first-baby-receives-life-saving-gene-therapy-on-nhs/

[xi] https://www.imperial.nhs.uk/about-us/news/uk-medicines-regulator-approves-world-first-gene-editing-treatment-for-blood-disorders

[xii] https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework#priorities

[xiii] https://openresearch.nihr.ac.uk/documents/3-45

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