Navigating the Complexities: Health Technology Assessment for Rare Diseases

Rare diseases are conditions with low prevalence, often complex and potentially life-threatening. Globally, they impact millions. In Australia, a disease is termed ‘rare’ if it affects less than 5 in 10,000 people, with over 2 million people affected cumulatively.¹

Understanding HTA

HTA is a systematic process that evaluates the properties and impacts of health technologies and interventions, including their direct and intended effects, as well as any indirect or unintended consequences. This process plays a crucial role in informing healthcare decision-making, ensuring that resources are allocated efficiently to technologies that provide the most value. In the context of rare diseases, HTA takes on a unique role. It becomes the compass guiding the allocation of resources to therapies and treatments designed for conditions that affect only a small subset of the population.

Why HTA faces challenges with rare diseases?

Several factors complicate HTA’s application to rare diseases:

Data Challenges: Clinical trials often struggle with data collection due to patient scarcity. Additionally, the absence of treatments for many rare diseases raises ethical issues when designing control trials.

Economic Implications: Clinical development costs for rare diseases vary. Some research indicates fluctuating or equivalent costs, but methodologies differ. Also, the investment risk in rare disease treatments tends to be higher.

Ethical Concerns: The primary ethical debate revolves around treatment differentiation. The Australian healthcare system, like many others, is built on equitable access. Thus, treatment accessibility should be as efficient for rare diseases as it is for common conditions.

Country-Specific Approaches to HTA of Rare Diseases

Certain countries have recognised the need for specialised processes to assess healthcare technologies for rare diseases. For instance, France has implemented a distinct framework known as “Temporary Authorization for Use” (ATU) to expedite access to treatments for rare diseases while collecting real-world data. In the United States, the Orphan Drug Act incentivises the development of therapies for rare diseases.

Moreover, Canada’s Common Drug Review (CDR) and the pan-European Orphanet network facilitate collaboration and data-sharing efforts in the evaluation of rare disease treatments. These country-specific approaches serve as valuable examples of tailored solutions within the field of HTA for rare diseases.

Potential Solutions and Future Directions

The future of HTA for rare diseases holds promise through innovative approaches and international collaboration. Key potential solutions and future perspectives include:

Patient-Centred Data: Leveraging patient-generated data, often collected by advocacy groups and registries, can complement traditional clinical data, offering valuable insights into treatment outcomes and patient preferences.

Advanced Analytics: The application of artificial intelligence, machine learning, and Bayesian statistical methods can aid in extracting meaningful insights from limited datasets, enhancing the assessment of rare disease therapies.

Global Harmonisation: Collaborative efforts between countries, health organizations, and pharmaceutical companies can lead to the harmonisation of HTA methodologies, reducing duplication of efforts and facilitating timely access to treatments.