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May 10, 2023
People

Rare disorders prevalence

‘Blind spot’ in health system due to lack of data

Business and Economic Research Limited (BERL) was commissioned by Rare Disorders New Zealand to obtain an insight into the likely prevalence of rare disorders in New Zealand, considering both diagnosed and undiagnosed incidences.

Rare Disorders Insights Report: Pathways towards better health outcomes was based on publicly available data and a high-level literature scan of recent New Zealand and international studies that discuss the prevalence of rare disorders, as well as burden factors that need to be considered in the development of health policies.

It is not possible to accurately estimate the prevalence of rare disorders in the country due to the low quantity of data available. The primary reason for this is that the classification system for diseases that New Zealand uses does not include most rare disorders.

“As an organisation, we have long been calling for a national data registry on rare disorders, because otherwise how can we know the size of the issue? Without the numbers, how can the Government measure the need, estimate the demand for services, and make evidence-based decisions for this population group?”, says James McGoram, Chair of Rare Disorders NZ.

"People affected by rare disorders are falling through the gaps because of a lack of data.”

Based on international data, there are over 6,000 known rare disorders, estimated to affect up to 300,000 people in New Zealand. While these disorders individually occur in very small numbers in the population, those affected share the same challenges and systemic barriers in our health system - lack of timely diagnosis, poor treatment access, lack of coordinated care, isolation, and for many, being lost in the system.

These conditions can be complex, debilitating, and life-threatening, and often require a broad range of services. Without access to the appropriate care and treatment, rare disorder patients often end up - unnecessarily - being high-need, high-cost patients.

The report highlights studies from the US that found that an average rare disorder patient has an annual medical cost that is over NZS$40,000 more than an average patient, and that failing to treat rare disorder patients incurs even higher costs.

“Over half a billion dollars are currently being spent on a new data and digital health information system, Hira. We have repeatedly asked for rare disorder data to be captured under this new system, but we have seen no impetus to incorporate rare disorder data collection. To miss this opportune moment would be extremely frustrating, as having the data is the first step to creating meaningful change for the rare community, and will ultimately lead to the health system saving millions,” says McGoram.

Key findings

  • The lack of data regarding rare disorders in New Zealand is not only a challenge to estimating prevalence, but also to improving diagnosis, treatment, and research
  • The classification system for diseases that New Zealand uses does not include most rare disorders
  • New Zealand may be performing worse than its peers in diagnosis speed and accuracy
  • Pharmac’s own definition of rare disorders, at a prevalence of less than one person in 50,000, means that there is a rare disorder medicine funding gap.

Click here to read the report.