Improving the health and wellbeing of people with rare disorders is possible, beginning with a purposeful strategy, and a commitment to implement key changes in the health system to improve health system responsiveness for people living with a rare disorder.
For the Rare Disorders Strategy to deliver on its intentions to ensure the health system responds and relates equitably to rare disorder patients and improves their quality of life, it will need to include a minimum set of actionable items to drive change.
Rare Disorders NZ, in consultation with domestic and international experts, has identified four essential implementable actions we want to see incorporated into the strategy:
#1 Rare and Undiagnosed Disorders Centre of Expertise
The Centre will identify gaps in the delivery of service and support in New Zealand’s health and other systems for people living with rare disorders, similar to other initiatives globally. The centre will comprise a multidisciplinary team of internationally-networked experts within New Zealand, who will be available to provide expertise and guidance for clinicians and professionals in how to support rare patients and clients in accordance with best practice standards. This work will be an extension of roles they hold with locality-based health and other service providers. See here for a more detailed description of what this could look like.
#2 Single barrier-free pathway to rare disorder medicines
The current one-size-fits-all model under Pharmac's pharmaceutical schedule does not work for low volume, high-cost medicines for rare disorders, and there are too many inconsistencies under the only other avenue – the exceptional circumstances framework. A separate assessment pathway for rare medicines with criteria separate to common conditions (as is implemented in Europe, Australia and Japan) will ensure equitable access to medicines for those with rare disorders.
#3 Incorporating coding of rare disorders in the classification system of diseases
The classifi cation system for diseases that New Zealand uses does not include most rare disorders. This lack of data is problematic for funding and resource allocation, as these patients tend to be high-need, high-cost patients. With the implementation of the nationwide Electronic Medical Record (EMR) using SNOMED terminology, there is an opportunity to incorporate coding of rare disorders using Orphanet Coding (ORPHACODES) in this system, as 6,500 Orphacodes, have been mapped to SNOMED CT codes. Orphanet is the most comprehensive database of rare disorders.
#4 Rare Disorders NZ is a key enabler for the Strategy's implementation
As the only national organisation supporting all New Zealanders living with a rare disorder and their carers, Rare Disorders NZ has played an integral role in supporting the development of the Rare Disorders Strategy, by advising, providing essential information and establishing connections between the Ministry and stakeholders, including patients and whānau. The organisation is well-placed to continue to support the implementation stage of the strategy, and should be acknowledged and compensated accordingly.