Supporting better health at the 2026 Koori Knockout

October 11, 2026 by Liz Farquhar Leave a Comment

NSW Health Pathology was proud to support the 2026 Koori Knockout on Worimi Country near Newcastle, bringing free diabetes screening and health information to one of Australia’s largest gatherings of Aboriginal people.

Held from 2–4 October, the event brought together thousands of players, supporters, families and Elders from across New South Wales to celebrate rugby league, culture and community.

Working alongside Diabetes Alliance Program Plus (DAP+) in the Gudida Wellbeing Precinct, NSW Health Pathology volunteers provided free diabetes screening using Point of Care Testing (PoCT) technology. An air-conditioned van supplied by DAP+ provided a comfortable space for community members to have a health check and talk with healthcare professionals.

Led by Associate Director of PoCT Gayle Warnock, the team conducted more than 100 HbA1c tests across the three-day event.

A woman standing next to a man sitting in a chair inside a medical testing van. — Fast results! Gayle Warnock and one of the many people taking advantage of free testing at the Koori Knockout.

A woman in a chair getting a blood test taken. — Gayle carrying out the finger prick test , which gives results in just a few minutes.

“It was so much fun to be part of such a positive community event, with family, culture and footy at the heart of it,” Gayle said.

“There is such a high level of health literacy around diabetes in the Aboriginal community, and so many people were keen to get a check-up and make sure they were on the right track.”

For Gayle, the greatest impact came through the conversations that accompanied the testing.

“The standout was hearing people’s stories and understanding how they experience the healthcare system. The testing gave us an opportunity to have important conversations about health and wellbeing.”

NSW Health Pathology Education and Initiatives Consultant Tascha Dickson, who helped coordinate the organisation’s involvement, praised the volunteers who supported the event.

“A huge thank you to the NSW Health Pathology volunteer team for bringing such incredible energy and commitment to the event,” Tascha said.

“From set-up through to the final pack-up, you were always ready to step in, support one another and contribute wherever needed. Every person played an important role in making our participation such a success.”

Four people standing outdoors in front of NSWHP signage, wearing Indigenous design NSWHP polo shirts. — NSWHP Chief Executive Vanessa Janissen, Operations Director Forensic Medicine Rebecca Gigli, Nepean Local Pathology Director Dr James Branley and Gayle Warnock, Associate Director, PoCT.

Chief Executive Vanessa Janissen said the event highlighted the importance of meeting communities where they are and building relationships through genuine engagement.

“The Knockout was larger than any of us had prepared for, and was so much fun to attend,” Vanessa said.

“The connections we made and conversations we had with people from communities from Brewarrina to Dubbo, South West Sydney and Moree were incredibly heartening.

“Hopefully we were able to make a difference to the health and wellbeing of First Nations people, while demonstrating our commitment to partnering with communities in ways that are meaningful and respectful.”

The event provided an opportunity to connect people with health information, encourage early detection of diabetes and strengthen partnerships that support better health outcomes for Aboriginal communities across NSW.

Two women chat at a NSWHP themed table at the 2026 Koori Knockout. — Connecting with community was a big goal for NSW Health Pathology at this year’s Koori Knockout.

“They’ve given me my boy back” NSW Health Pathology geneticists help unlock a world-first treatment for baby Bohdi

October 5, 2026 by Liz Farquhar Leave a Comment

When baby Bohdi Higginson began suffering devastating seizures at just three months of age, clinicians knew they were facing a rare and complex condition. The answer ultimately came through genomic testing at NSW Health Pathology’s Genomics Laboratory at Prince of Wales Hospital at Randwick.

It’s precision medicine in practice, where a team led by genetic pathologist Dr Michael Buckley and clinical geneticist Professor Tony Roscioli helped identify the genetic cause of baby Bohdi’s epilepsy.

The diagnosis revealed a change in the KCNT1 gene, a rare genetic variant associated with catastrophic epilepsy. The result provided clinicians with the information needed to explore a targeted treatment approach that would lead to a world-first medical breakthrough.

Bohdi’s mother, Steph Higginson, first noticed something was wrong when Bohdi was just seven weeks old.

“I just knew that something was going on. This is not what an ordinary baby should be doing,” she said.

As his condition deteriorated, Bohdi began experiencing multiple seizures a day, many of which Steph captured on camera to help doctors understand what was happening.

When clinicians confirmed the diagnosis, the news was devastating.

“I remember my first question was, ‘How long is my son going to live?’ And they were unable to tell me that,” she said.

“It was a very big shock to me as his mum that my son was critically ill and he could die very soon.”

The genetic diagnosis provided clinicians the information they needed to look beyond conventional epilepsy treatments and consider a precision medicine approach targeted to the specific genetic change responsible for Bohdi’s condition.

The power of genomic testing

Professor Roscioli said genomic testing plays an increasingly important role in helping families find answers for rare diseases.

“About 10 per cent of children seen in hospital early in life are there because of a rare condition,” he said.

“There are more than 4,000 genes currently known to be associated with genetic disorders and, as knowledge increases, our ability to make diagnoses continues to improve.”

While KCNT1-related epilepsy is a recognised condition, it is just one of hundreds of genes analysed when a child is referred for genomic testing because of seizures or developmental concerns.

“KCNT1 is a known gene that can result in epilepsy, but it is one of hundreds of different genes that are considered when the referral is for genomic analysis for epilepsy,” Professor Roscioli said.

A man standing in a laboratory, smiling. — Randwick Genomics Senior Staff Specialist Professor Tony Roscioli.

The Randwick Genomics Laboratory uses sophisticated analysis systems to search for rare DNA changes that could explain a patient’s condition. Even with these advances, a diagnosis is currently found in only about 40 per cent of children referred for genomic testing due to epilepsy or intellectual disability.

For Professor Roscioli, the case highlights the importance of close collaboration between genomic scientists and clinicians.

“This is critical,” he said.

“The specific details of every family need to be summarised for the laboratory so genomic testing can focus how the DNA sequence is analysed. Clinicians like being able to have this conversation. It demystifies the laboratory and improves clinical outcomes.”

A world-first treatment

When doctors presented Steph with the possibility of a novel treatment specifically designed to target the KCNT1 pathway, she faced an agonising decision.

“I was told that this was pretty much the only option they’ve got available for his condition. So to me, it was a no-brainer. How could I say no when it could be exactly what he needed?”

At the same time, she understood the risks.

“It was terrifying for Bohdi to be the first person with this condition to have a medication that is unknown to everyone.

“But it did give me hope that the treatment was not just masking the symptoms but treating the condition.”

Just days after treatment began, Bohdi’s seizures stopped.

A baby smiling. — Baby Bohdi’s recovery was noticeable within days of the treatment starting. (Photos supplied: ABC News, Timothy Ailwood)

Hope for the future

Professor Roscioli described his reaction on hearing the news.

“It was both amazement and happiness that the work we are doing to institute genomic diagnostics for rare conditions in NSW is benefiting people,” he said.

He believes maintaining genomic expertise within the public health system is essential to ensuring all families have access to life-changing diagnoses and treatments.

“It is critical to foster and maintain this expertise, particularly in the public health system, so that families from every background can access it,” Professor Roscioli said.

“There are often quite complex situations that require individualised systems to get to the right answer, and the right answer quickly. The application of precision medicine requires it.”

A group of people standing in front of a piece of artwork in a modern office space. — Some of the team at NSW Health Pathology’s Randwick Genomics laboratory. Left to right: Nila Quayum, Futao Zhang, Minakshi Chaudhary, Juliette Abrahamse, Dr Edwin Kirk, Ying Zhu (in front of Edwin), Justin Szot (behind Edwin), Meysam Rezaeishahmirzadi.

While cases like Bohdi’s remain uncommon, Professor Roscioli is optimistic about the future.

“Currently, just over one per cent of genomic diagnoses lead to some form of specific treatment change,” he said.

“The first step is understanding what causes a disease. The second is making a genomic diagnosis. The third, treatment, requires these. As long as genomic diagnostic services continue to meet this need, increasing knowledge will lead to more and more conditions having therapies.

“A generation ago, all of this was inconceivable. We can expect many rare conditions to have a treatment in the next generation.”

Steph credits the rapid genomic diagnosis with changing the course of her son’s life.

“I just want to say thank you to (the genomics team) for being so wonderful and so good at their job,” she said. “They’ve given me my boy back.”

Bohdi’s story shows how genomic medicine is moving beyond diagnosis alone, helping clinicians connect the right patient to the right treatment at the right time, and offering new hope to families affected by rare disease.

Meet Melleah: Behind-the-scenes care that makes a difference

September 17, 2026 by Sally Topp Leave a Comment

Mel is a Medical Laboratory Scientist based at our Moruya laboratory, and for the past two years she has been playing a vital role in supporting patient care through her work at NSW Health Pathology.

Although scientists often work behind the scenes, Mel says the importance of their work is never far from mind. “The results we produce are essential in guiding doctors and supporting patient diagnosis and treatment,” she explains. “Every test result contributes to a clinical decision.”

For Mel, the word ‘care’ means being accurate, responsible and dedicated at every step of the process. Each sample represents a person waiting for answers, and that understanding shapes how she approaches her work each day.

One of Mel’s proudest achievements has been developing her skills and confidence as a Medical Laboratory Scientist. She values being a dependable member of the team and knowing her work contributes to safe, high-quality patient outcomes.

What motivates her to come to work each morning is simple but powerful: knowing that the work done in the laboratory directly supports doctors and helps patients receive the right diagnosis and treatment, often at critical moments in their care.

Outside of work, Mel enjoys reading and recommends Atomic Habits, a book that explores how small, consistent changes can lead to significant improvements over time – a philosophy that aligns closely with the precision and consistency required in pathology.

Mel’s story is a reminder of the essential role pathology professionals play every day in delivering care across NSW.

A Commonwealth dream: Reagan Clarke reflects on a remarkable comeback

September 16, 2026 by Sally Topp Leave a Comment

After a nine-year break from competitive fencing, NSW Health Pathology’s Reagan Clarke has achieved a goal years in the making: representing Australia at the Commonwealth Fencing Championships in Lagos, Nigeria.

Competing against some of the world’s best fencers, Reagan finished 19th in Men’s Individual Epee, 22nd in Men’s Individual Foil, eighth in Men’s Team Epee and sixth in Men’s Team Foil.

While the results fell short of the high standards he sets for himself, Reagan says the experience was a success.

“I didn’t medal, which was disappointing, but overall I fenced well and beat some very strong competitors,” he said.

One of his closest contests came in the Men’s Individual Epee, where he narrowly lost 15–14 to a highly ranked Welsh opponent.

Despite the competitive intensity, it was the camaraderie on and off the piste that stood out most.

“As we didn’t have a coach or team manager with us, everyone stepped up and supported each other,” he said. “The team spirit was incredible, and the international fencing community was very welcoming.”

For Reagan, simply reaching the Commonwealth Championships was an achievement in itself.

“This event was the culmination of decades of hard work, training and sacrifice,” he said. “It means a lot to be able to call myself a Commonwealth athlete.”

Representing Australia also carries a different meaning now than it did earlier in his career.

“When I was younger, selection felt almost expected because I was training and competing at such a high level. These days, balancing work, training and life means every opportunity means so much more.”

The experience also taught him that his competitive drive remains as strong as ever.

“I learnt that the fire in me that strives for good results still burns, just in a slightly different way. I’m proud to say that I gave it my all.”

Back in Australia, Reagan is taking some time to recover and consider his next steps, which could include coaching, athlete management or competing in future Masters and Veterans events.

Reflecting on his achievement, Reagan says the support of family, teammates and colleagues played an important role in helping him achieve his goal.

“Getting to the Commonwealth Championships took a lot of hard work, but it also wouldn’t have been possible without the encouragement of the people around me,” he said. “I’m grateful for the support I’ve received from my family, my teammates and my colleagues at NSW Health Pathology throughout the journey.”

His advice for anyone considering returning to a passion they’ve put aside is simple.

“Do it. Looking at something you love with a fresh perspective can be incredibly rewarding.”

For Reagan, returning to fencing after so many years was about more than the final results. It was a chance to test himself again, reconnect with a sport he loves and represent Australia on the international stage.

A new era of digital haematology to speed up critical medical diagnoses

September 14, 2026 by Kristy Waddell Leave a Comment

The statewide rollout of Digital Haematology Morphology technology is nearing completion and marks a significant milestone in the modernisation of laboratory services across NSW Health Pathology.

This technology is modernising blood film analysis across metropolitan, regional and rural laboratories for conditions like leukaemia and other blood cancers, reducing turnaround times and improving patient safety.

Project Manager Mandy Hubbard said this program is transforming how blood films are reviewed and how quickly patients receive care.

“The initiative has successfully introduced digital morphology capabilities at scale, enabling laboratory teams to access cases remotely, collaborate more effectively and reduce reliance on physical slide handling. This is particularly beneficial for regional and smaller laboratories, where access to specialist expertise can now be achieved more efficiently,” Mandy said.

“Since its commencement in April 2025, the program has expanded to 41 sites, including nine reporting-only locations.

“To support this rollout, 33 analysers have been installed and more than 200 staff trained in the new systems.”

The first sites, Tamworth and Port Macquarie, went live in February 2026, and the final site, Bankstown, was completed in mid-August 2026.

A lady with dark curly hair with pictures of cells under the micrscope. — Project Manager Mandy Hubbard

The impact of digital morphology is already evident, with up to a 15 hour improvement in turnaround times at some sites measurable improvements in turnaround times recorded across multiple sites in NSW.

Supporting staff through change

Feedback from laboratory staff highlights a strong shift from initial hesitation to confidently adopting the new technology.

“I will be honest and say that I was hesitant when we were all talking about it for the last couple of years. But now that we have gone live, I am loving it… Morphology and Micro would always be the last bastions for automation, but here we are!” – Lynda, Tamworth Laboratory, Hospital Scientist.

“Once you get the hang of it, it’s really easy to use and quicker.” – Suzanne, Wagga Wagga, Senior Scientist.

“It confirmed a previously undiagnosed case of G6PD deficiency and ensured a patient with acute leukaemia was diagnosed and transferred to a Sydney hospital the same day for treatment,” - Alison, Kempsey Lab Manager.

These experiences reflect broader feedback across sites, where staff are reporting improved efficiency, easier access to cases and reduced time spent manually locating slides.

Congratulations to everyone who has been involved. This milestone sets a strong foundation for continued innovation, delivering faster, more consistent and more connected pathology services for communities across NSW, and delivering care closer to home, especially for regional and remote patients.

A group of Bankstown lab professionals smile in front of these new scanner. — The Bankstown Laboratory team with their new scanner which allows them to access cases remotely, collaborate more effectively and reduce reliance on physical slide handling.

New Australia-first test offers advanced monitoring for thyroid cancer patients

August 27, 2026 by Liz Farquhar Leave a Comment

People living with thyroid cancer across NSW now have access to a highly specialised diagnostic test available through NSW Health Pathology, providing clinicians with a new option for monitoring patients where conventional testing may be less reliable.

The new high-sensitivity serum thyroglobulin (TgMS) test offers clinicians an additional option for monitoring selected patients with differentiated thyroid cancer when conventional immunoassay results may be affected by antibody interference.

This new service, developed by NSW Health Pathology’s Clinical Chemistry team based at Royal North Shore Hospital, is the first clinical assay of its kind available in Australasia and expands access to advanced mass spectrometry-based diagnostics for patients across NSW and beyond.

How is the test different?

Thyroglobulin is an important tumour marker used to monitor patients following treatment for differentiated thyroid cancer. However, conventional laboratory testing can be affected by anti-thyroglobulin antibodies (TgAb) and heterophile antibody interference, making results difficult to interpret in some patients.

The new LC-MS/MS assay overcomes these limitations by providing thyroglobulin measurement that is unaffected by these interferences, helping clinicians make more informed decisions about ongoing patient care.

Dr Magda Bolek and Dr Lucy Ding (pictured above) led the development of the new assay.

A woman in a white lab coat inspecting a mass spectrometry device. — Dr Magda Bolek with the mass spectrometry equipment used to carry out the new test.

Dr Bolek said the test fills an important need for clinicians managing patients with differentiated thyroid cancer.

“This is a significant advancement in thyroid cancer monitoring and provides clinicians with access to a highly specialised test, not previously available anywhere else in Australia,” she said.

“The assay may be particularly valuable for patients with persistent anti-thyroglobulin antibodies, where standard testing results do not align with the clinical picture, or where antibody interference is suspected.”

Dr Ding says the assay fills an important clinical gap.

“For some thyroid cancer patients, conventional thyroglobulin testing can be challenging to interpret due to antibody interference,” she said.

“This new LC-MS/MS assay eliminates the antibody interference but still has a sensitivity down to 0.1 ug/L which is equivalent to the best thyroglobulin immunoassays on the market.”

A woman in a white lab coat in a laboratory points to a series of results on a computer screen. — Dr Bolek explains how the testing provides highly sensitive thyroglobulin measurement.

NSW Health Pathology Chief Executive Vanessa Janissen said the service demonstrates the expertise and innovation of public pathology services in NSW.

“Our teams continue to develop and deliver sophisticated diagnostic services that support clinicians and improve health outcomes for patients across the state,” Ms Janissen said.

“This new assay strengthens NSW Health Pathology’s capabilities in precision diagnostics and ensures patients have access to world-class testing closer to home.”