New genomics pilot project answers call for improved access to early and accurate diagnosis

Rare Disorders NZ is thrilled by today’s announcement that a whole genome sequencing pilot project is being launched by Health NZ in partnership with Illumina.

Whole genome sequencing is the most advanced genetic test available. Until now New Zealand has had to rely on genomic sequencing services on the other side of the world in Finland. As a result this type of testing has only been offered sparingly, and for many people living with rare disorders has meant a long journey to diagnosis.

“The diagnostic odyssey that so many people living with rare disorders experience takes a huge toll on their health, both physically and mentally. It delays their access to treatment, and living with the unknown is incredibly challenging to plan around,” says Chris Higgins, Chief Executive of Rare Disorders NZ.

“We have been calling for improvements to New Zealand’s capabilities for early and accurate diagnosis for a long time. This pilot project answers that call.”

Last week Rare Disorders NZ launched a white paper based on the results of their most recent survey of the rare disorder community in 2025. It found almost a quarter of respondents had waited over five years for a diagnosis, and half were misdiagnosed at least once.

“We’ll look forward to seeing these numbers improve over the coming years, but with this new diagnostic capability it is more urgent than ever to prioritise the development of clinical care pathways for rare disorders. People need a plan once they receive their diagnosis,” says Higgins.

“A diagnosis delivers answers, but it also raises further questions of ‘what now’, and clinicians need to be ready with answers.”

Rare Disorders NZ’s 2025 survey found over half of respondents reported their doctor either found it difficult to find information on their disorder, invested a lot of time finding information, or did not find any information to put them on the right care pathway.

“At our launch last week the Minister of Health reaffirmed his commitment to implementing the Rare Disorders Strategy. Implementation will make a significant impact on how the health system responds to rare disorders,” said Higgins.

“There is really promising momentum right now. Being an election year, we will be focused on ensuring there is cross-party support to ensure this momentum continues.”

ENDS.