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Clinical genomics analysis corrects a decades-long mis-diagnosis 

Genomics diagnosis in clinical medicine is well established overseas, but a lack of diagnostic capability and infrastructure in New Zealand is forcing clinicians to purchase sequencing and analysis overseas. Building infrastructure and capability in genomics diagnosis through collaborative relationships between laboratories and clinicians is therefore critical to the future of genomically informed healthcare in New Zealand. 

The completed Clinical Genomics project contributed to the development of the workforce and skills, which is vital to support genomic diagnostics in healthcare delivery.

What we have done

Getting an accurate diagnosis is a major hurdle for many people with rare conditions. When a person has a rare genetic condition that cannot be precisely diagnosed, the impacts on them and their whānau can be profound. A recent survey found that it took more than a year for over 50 percent of people with a rare condition to receive an accurate diagnosis, and for 20 percent of people it took more than 10 years. 

Clinical Genomics

An extreme case is that of a man, now in his 40s, who was diagnosed with Prader Willi Syndrome as a baby. Prader Will Syndrome ( is a rare genetic multi-system condition with wide a range of complex features. Despite having some features not consistent with the syndrome, the man was brought up following the treatment guidance of the time. 

The Clinical Genomics research team found genetic variants within the man’s genome that revealed a misdiagnosis; he really had CHD4-related syndrome. This is another complex genetic syndrome, only discovered in 2019, that is associated with developmental and speech delay. 

While there is no treatment for the condition, the man and his family now have an accurate diagnosis that explains all symptoms and a better understanding of the condition. His mother was relieved. 

“I needed to know in my lifetime what was wrong and why, and now I know. For me, it’s removed doubt – I'm not left wondering. There’s a sense of relief, and I'm pleased for my son and for his brother that they know. They will know what it is if it is ever passed on.” 

And although life would have been easier for the family if this test had been available when he was a baby, his mother said her son has developed into a healthy social man who is living a good life. 

The impact

Clinical genomics offers the potential for an accurate diagnosis to assist with management of rare conditions. Aotearoa has now started to build this capability among clinicians, and to embed the tools and pipelines essential for clinical genomics diagnostics. 

An important aspect of all Genomics Aotearoa projects is their potential to contribute to positive outcomes after project completion. Living with a rare condition is never going to be easy, but accurate, early diagnosis could influence the trajectory of the condition’s outcomes.

Read more about Clinical Genomics here