Health Care and Rare Disorders: Evidence brief

Summary

This Evidence Brief was completed in November 2023. It includes an examination of the provision of healthcare, diagnosis, access to treatment, cost, quality of life and the role of research for rare disorders. There is a large body of international research and evidence dedicated to rare disorders but very little that is Aotearoa New Zealand-specific.

Rare disorders are a highly varied group of conditions that are referred to as a whole due to the low prevalence of each disorder. Rare disorders tend to be chronic multi-system disorders which can have a substantial impact on a person’s wellbeing. The complex and unique problems faced by people with rare disorders are experienced in similar ways across the globe, and there is substantial international, often community-driven, work occurring to address these problems.

In New Zealand, people with a rare disorder may access services through their local health, disability and social support service providers, generally through a referral from their general practitioner. Organised support for different disorders is largely provided through community-based organisations, many of which are affiliated with the Rare Disorders NZ consortium. While not all rare disorders result in a disability, many do.

People with these rare disorders are likely to be included within the wider population cohort of disabled people. Barriers to accessing health care are a significant issue in some regions, particularly for rural and poorly served lower socioeconomic communities. 

High level recommendations from the evidence were:

1. Te Tiriti o Waitangi and equity need to be at the centre of a strategy
2. specific diagnosis and treatment pathways need to be developed for people with a rare disorder
3. a nationally coordinated approach to research focused on rare disorders is required
4. dedicated infrastructure development is required to meet the specialised needs of rare disorders. These include registries, biobanks and genomic databases.