eResearch NZ 2021 - invited speaker
Date: 10-12/2/2020
Abstract submission
The path to growing New Zealand’s clinical genomics capacity
Genetics plays an important role in many diseases afflicting New Zealanders. There is a shift internationally towards more high-throughput genetic testing. However currently in New Zealand, genetic testing routinely involves gene panels (testing multiple genes involved in a disorder the patient is suspected to have) or testing for variation in chromosomal structure and number. However, there is much more information available within a person’s genome that has powerful diagnostic and treatment implications. This is where clinical genetics becomes clinical genomics!
The Human Genomics group at ESR has been working in collaboration with the Capital & Coast District Health Board (CCDHB) and Genomics Aotearoa (GA) to grow New Zealand’s clinical genomics capacity by adopting established practices and infrastructure used overseas. We built open source analysis pipelines based on best practices in bioinformatics. These utilise workflow languages and portable software allowing the analysis of genomic data to be standardised New Zealand wide. Parts of these analysis pipelines run on cutting edge NVIDA GPU’s in HPC environment that massively speed up the analysis. When demand for clinical genomics expands, we can scale up with more GPU’s, the software is ready to adapt.
We envision a future where clinical genome sequencing can be done in New Zealand. With this ‘last piece of the puzzle’, we can go from sample collection to clinical interpretation in days instead of months or years, a crucial speedup for people living with undiagnosed disease. We have already had a potential diagnosis of an individual who was unable to be diagnosed through years of traditional testing. Stories such as this continue to spur us on to make clinical genomics and precision medicine accessible to all New Zealanders.