New Zealand gains genomic testing independence

For anyone living with rare and inherited conditions or facing a cancer diagnosis, time matters. Yet, for many patients in New Zealand, answers have historically taken weeks, months, or years, as genomic tests are hard to access and the samples are processed offshore. 

Illumina is supporting a new, two‑year genomics pilot program that aims to change that. Announced by Health New Zealand and led by Canterbury Health Laboratories (CHL), the pilot will evaluate how advanced genomic testing can be delivered locally within the public health system—supporting earlier diagnosis, more precise genomics-based decision‑making, and stronger in‑country capability.

“This two-year pilot will bring testing home, reducing wait times at one of the most stressful points in a patient’s life and supporting our health targets so cancer patients can receive treatment sooner and people spend less time waiting for specialist care,” New Zealand’s Minister of Health Simeon Brown said in a press release.

The pilot program provides sequencing and data infrastructure, alongside training and implementation support, as part of Illumina’s broader commitment to democratizing access to sequencing technologies across the Asia‑Pacific region.

“The program marks a milestone in New Zealand’s healthcare journey,” says Nilesh Shah, Head of Region – APAC at Illumina. “For families, it means faster answers. For clinicians, more precise decisions. And for the health system, stronger local capability with less reliance on overseas testing.”

From overseas reliance to local insight
Genomic testing plays a growing role in diagnosing rare diseases, guiding cancer treatment decisions, and informing long‑term patient care. However, historical delays and access challenges have slowed a patient’s diagnostic odyssey at critical points in the pathway.

“Our government is focused on putting patients at the center of the health system. This pilot is about getting Kiwis answers faster and building a genomics testing service New Zealand can be proud of,” Brown said.

The pilot is designed to test a different model: one where genomic sequencing, data analysis, and reporting can be delivered locally, within an integrated public health setting. It will trial two complementary approaches: whole-genome sequencing (WGS) to support diagnosis of rare and inherited conditions, and comprehensive genomic profiling (CGP) to help guide cancer diagnosis and treatment decisions.

Shortening the diagnostic journey
For families affected by rare disease, diagnosis can take years—often involving repeated testing, multiple specialist referrals, and prolonged uncertainty. WGS has the potential to significantly shorten that journey by providing a more comprehensive genetic assessment earlier in the process.

Time is also a factor for oncology patients. But with access to CGP testing, it can help clinicians better understand tumour characteristics and make therapy selection within days, before the patient’s next appointment. “The pilot supports health targets by helping cancer patients start treatment sooner and reducing the time they spend waiting for specialist care,” says Shah.

By supporting in‑country capability at Canterbury Health Laboratories, this pilot is a practical step toward getting New Zealanders answers much sooner.

Building capability beyond technology
While advanced sequencing platforms are central to the pilot, its scope extends well beyond technology alone.

Alongside clinical outcomes, the pilot will assess workforce readiness, operational efficiency, and the systems needed to support genomic data management and governance, helping inform how a coordinated national genomics service can develop, and what is required to deliver genomics safely and sustainably at scale.

As part of the support, Health New Zealand has requested access to an end‑to‑end “sample‑to‑report” solution, including sequencing systems, data infrastructure, and on‑site training to support validation and implementation. But it is not merely that—the pilot program is centered on strengthening confidence and capability across the workforce, from laboratory science to bioinformatics and clinical reporting.

Laying the foundations for the future
The two‑year pilot will generate robust evidence on clinical impact, equity considerations, operational requirements, and long‑term sustainability, helping inform future decisions about how genomics could be embedded into New Zealand’s health system.

It has been described as a first step in building a national genomics service New Zealand can be proud of. While time‑bound, the pilot’s insights are expected to play an important role in shaping how genomics supports patient care in the future.

“At its core, this pilot is about people, ensuring patients and their loved ones have access to world-class care in their home country,” says Shah. “We look forward to the insights and impact the pilot program will deliver.”