February 2024
Guest editor: Amanda Cole | Associate Director
Why do we care about rare?
Rare Disease Day, observed on the last day of February every year, is a reminder of the unique struggles individuals with rare diseases face. Launched by EURORDIS in 2008, this day aims to increase awareness among the public and decision-makers, advocating for equitable access to diagnosis, treatment, care, and social opportunities.
The rarity of these conditions results in low medical expertise, knowledge, and limited research.
However, over 7000 known rare diseases collectively impact 300 million people worldwide.
OHE has played a role in understanding and addressing the challenges those with rare diseases face, particularly in the treatment space.
Evaluating and valuing drugs that treat rare diseases requires special considerations. High prices, challenges in evidence generation due to small patient numbers, and equity concerns have led to technology appraisal criteria and process adaptations in many countries. In addition, the way that our regulatory and reimbursement systems appropriately signal our priorities also requires special adaptation to ensure innovation in the rare disease space is not left behind.
With many rare diseases having genetic origins, gene therapies represent a transformative advance. However, their high costs challenge health system financing. OHE's work on gene therapies includes whether current Health Technology Assessment (HTA) methods are fit for purpose and offers key recommendations to capture their value and address outcome uncertainty better. Adapting the way that we pay for therapies may be needed, for example spreading payment over time, or tying payments explicitly with patient outcomes realised in practice.
Looking ahead, key policy changes may impact innovation in rare disease treatment. Proposals for reform to the EU Pharmaceutical Legislation and the introduction of the Inflation Reduction Act in the US are raising questions with implications for rare disease innovation.
The research conducted by OHE highlights the challenges faced by those with rare diseases. As we mark Rare Disease Day 2024, we reflect on past progress and look at future opportunities to advance the dialogue and solutions.
NEW FROM OHE
The term 'pressure' has been widely used to describe various challenges, long before the COVID-19 pandemic. Regardless of its common usage, a formal definition of healthcare system pressure (HCSP) is currently missing.
In this report, we developed and tested a novel conceptual framework of HCSP.
Discounting in economic evaluations presents challenges for therapies with high up-front costs and long-term benefits.
In this insight, we discuss how health economics can learn from debates occurring within environmental economics, where discounting poses similar challenges.
The decision to adopt or not adopt a new healthcare technology, and the process by which this decision is made, affects patients, the health system, and wider society.
In this Whitepaper, we suggest that the patient perspective is critical to making fully-informed decisions about the value of new technologies, but this perspective has not always been given the same weight.
29 FEBRUARY - RARE DISEASE DAY
Not all medicines for ultra-rare conditions are appraised under the same NICE process.
This report discusses the distinct ethical and economic challenges faced by medicines for ultra-rare conditions, with particular reference to the challenges of HTA in the UK.
Rare Disease Day is observed on the last day of February every year. OHE has been actively considering the implications of rare or ‘orphan’ diseases for more than two decades.
In this insight we reflect on progress and highlight the remaining challenges.
Gene therapy is particularly relevant to rare disease patients, as more than 80 per cent of rare diseases have a known monogenic cause.
This report discusses the potentially transformational promise of gene therapy for patients and society.
CAREERS AT OHE
Deadline: 30 April 2024
OHE supports aspiring health economists by offering part-time studentships for the MSc in Health Economics at City, University of London. The successful candidate will receive OHE-funded part-time fees and a stipend of £1,600 monthly for two years.
The fellowship includes engaging in OHE activities, having a co-supervisor from OHE staff, and committing to working with OHE for a year post-graduation. The fellowship is available for home students only.
UPCOMING FROM OHE
