Meet NovaSeq, delivering better patient care

29 September 2022

Whoever you are, you or someone you know will be directly impacted by genomic testing.

Cancer testing, carrier screening, diagnostic genetic testing, prenatal testing and more are all encompassed by genomic testing, and if you reside in South Australia, will likely be analysed through SA Pathology.

SA Pathology has just received an Illumina NovaSeq 6000. This new sequencing instrument will make an incredible difference to all South Australians and allow us to continue providing the highest quality of patient care in genomics testing.

Lead scientists, Rob King, A/Prof Karin Kassahn and Prof Hamish Scott, know just how quickly this technology is improving, and the impact it can have on all kinds of testing. Karin says that, even just twenty years ago the first draft human genome had only just been published, and Rob says when he graduated, they were only just figuring out how to sequence DNA. Neither of them could have known what would be available to them as they moved into their careers.

Before the NovaSeq’s arrival, the department was running at full capacity, and it’s no wonder, with a growing population, and changes to the Medicare rebate scheme to include more genetic testing, and genomic sequencing of COVID-19.

There are 3 billion nucleotides in one human genome, with every cell containing two copies of the genome. The NovaSeq can sequence them all, rather than just a small part. This is known as Whole Genome Sequencing.

Whole genome sequencing may be appropriate for complex syndromic patients with a rare disease.

Essentially such patients may be the only person in South Australia, Australia or even, internationally, with a particular disease. Therefore, the most comprehensive testing needs to be done to find the causative gene variant.

The NovaSeq can be used on smaller genomic tests too, helping to speed up turnaround times and patient results.

The NovaSeq’s capacity will also assist in SA Pathology’s ground-breaking research, particularly, in acute care, pre-natal and still-birth genomics, newborn screening and comprehensive cancer profiling

Genetic testing for South Australians is now performed in South Australia from start to finish, and the NovaSeq’s capacity will help to minimise wait times.

“Having this instrument in-house now means we have massively increased capacity for new genomic testing with direct control over the full lab process here. With our direct links to the different clinical teams, this will be a massive boost for clinical testing and our translational research, leading to better patient care” Karin says.

Rob and Karin have also praised the team, whose skill and knowledge are “second to none”.

Everyone is incredibly excited about the NovaSeq’s potential, particularly Rob. “Genomics is not just a thing of the future. It is here and now and important to invest in for local patients to benefit as soon as possible… we’re going to make even more exciting things happen!”

Read more about our Genomics and Molecular Pathology work.