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New Research Aids Rare Disorders Diagnosis

March is Rare Disorders Month. For the New Zealanders struggling with the multitude of health conditions that the month recognises, new research has just been completed which will make the sometimes decades-long process of diagnosis an easier one.

Professor Stephen Robertson

In the world of rare disorders, the long journey to an answer is called the ‘diagnostic odyssey’. “Not having a diagnosis can leave families feeling isolated and floundering,” said Professor Stephen Robertson, Principal Investigator for the Genomics Aotearoa funded research and Cure Kids Chair of Paediatric Genetics. “Before genomic testing, the diagnostic odyssey was so much more difficult, often involving multiple misdiagnoses with resulting incorrect treatment plans, and all while symptoms are becoming more challenging. This project shows that New Zealand has the capability to assess our own people, onshore, increasing the speed to diagnose and improve lives for the families who are living with these rare disorders”.

Genome sequencing analyses all the genes in a patient's DNA. For children who have genetic disorders, this means searching the 3 billion letter codes of their DNA looking for the misspellings that cause the symptoms and challenges they have. While many countries, like Australia and England, lead the way with this technology, New Zealand has lagged behind.

Genomics Aotearoa aims to change that. The organisation funded Professor Robertson’s research that tested the genomes of 103 people, children and their families, who had undiagnosed disorders. From these tests, 33% achieved a diagnosis, a gratifying result given the patient group had already been intensively investigated, and a life-changing outcome for families who were struggling with the unknown.

Rose (name changed to protect her child’s anonymity) was one of those who received a diagnosis through this project. “When my son was three days old he had such bad seizures he was airlifted to a city hospital from our rural township and we spent a year in and out of hospital not knowing what was wrong. We had half a dozen possible diagnoses over the course of 13 years, but none that ever quite fitted. We knew testing was available overseas, in European countries, but never here in New Zealand; I had conditioned myself to never expect a diagnosis. It has been a journey of grief, and the unknown is the hardest part. We had exhausted all levels of testing, until we were offered to be part of this research program. I have all the gratitude and thanks in the world for Stephen and for Kate from Genetic Health Services in Christchurch for this work”.

Genome sequencing data is not routinely incorporated into clinical decision making in New Zealand. This project aimed to highlight the benefits of using genomic information for New Zealand patients and their families, using New Zealand expertise and resources.

There are multiple benefits to this work happening in New Zealand, but they boil down to two things: health and money. When testing happens in the country where the patient lives, the results are available much quicker. What this means for families like Rose’s, is the months and years spent waiting for a diagnosis can be cut down to a fraction of that time. “In health, the faster it is to a diagnosis, the better the outcomes for the patient and the cheaper it is for the system”, said Professor Robertson. “With misdiagnosis, there are corresponding treatment plans that don’t work and may cause more complications for the patient and stress on the health system”.

Professor Robertson’s lab partnered with Te Whatu Ora-based health labs to do the testing, with the majority of the work taking place at Canterbury Health Labs. Staff were trained in genomics techniques and undertook the work that was usually sent to labs in Europe and Australia. “It means our health dollars stay in the New Zealand system; that means we can do more with it,” said Dr Kylie Drake, Senior Scientist, Canterbury Health Labs. “This project has allowed us to upskill our people. We have a fantastic team here, and we proved that we have the capability to do this work and do it well. Now our data will be kept onshore and used to help more families”.

“New Zealand does not currently have the infrastructure in place to support genomic testing as a routine part of healthcare,” said Professor Mik Black, Co-Director of Genomics Aotearoa. “We wanted to use this project to provide a blueprint for DNA testing on the ground. The successful diagnoses highlight the importance of this approach. We can use the pathways put in place to integrate this into New Zealand’s healthcare system, saving money, increasing professional capabilities, and supporting families in difficult situations”.

This hasn’t just given diagnoses for those individuals suffering from rare disorders, it’s set processes in place to make it easier to do in the future.

For Rare Disorders NZ, the research is groundbreaking. “We just published a white paper showing that over 50% of those with rare disorders took more than a year to diagnose, 40% took more than two years, and 18% took over a decade. Early diagnosis means the negative effects of a rare disorder may be eliminated. The longer a patient goes without diagnosis, the more difficult to reverse its effects. This is the way of the future. The numbers are small, but this is just the start”, said Chris Higgins, Chief Executive of Rare Disorders NZ. 

Read here about Extending whole genome analysis into healthcare