ESR connect news story

Date: 30/10/2020

News story

Our growing opportunities in human genomics

​Did you know that earlier this year, the $100 barrier for sequencing a human genome was broken by the Beijing Genomics Institute? A decade ago, this would have put you $50,000 out of pocket. Globally, genomic technology has been, and continues to be, a rapidly developing field. Last week, Leah Kemp, a Bioinformatician in the Human Genomics team gave a presentation to the Genomics Aotearoa community to highlight the incredible opportunities that exists with continuing to grow ESR’s clinical genomic capacity.

As well as talking about work she has been doing developing genomic pipelines that automate the analysis of clinical genomic data, Leah gave an update on the growing clinical genomic capacity at ESR.

Leah says this work is important. “In New Zealand, it is typical for genetic testing of patients to involve gene panels (testing multiple genes involved in a disorder the patient is suspected to have), testing for structural variation in chromosomes and testing for missing or extra chromosomes.”

“The reduced costs of genome sequencing means it is has become economically viable to sequence the whole genome of a patient. In one go, you get a comprehensive picture of all the variation that exists within a patients genome. You get information on all the patient’s genes - around 20,000 to 25,000 genes - rather than a few genes that would be sequenced in each gene panel. This comes with incredible opportunities for precision medicine. Firstly, patients with rare genetic disorders are more likely to be diagnosed. Secondly, patients can be given medication and treatments based on their unique genetic makeup.”

The ESR Human Genomics team is currently involved in a wide range of projects including:

Clinical diagnostics though genetics with the Capital & Coast District Health Board (CCDHB) Regional Genetics Lab – already resulting in potential diagnoses for patients who have been unable to reach a diagnosis with traditional genetic testing

Providing support to CCDHB for the Clinical Genomics GA project.

The Rakeiora project aimed at improving genomic knowledge that will impact on the wellbeing of New Zealanders. This is being co-developed and co-governed with Māori.

Leah says, “Right now, we can do speedy, low cost exome sequencing and analysis. An exome is the protein coding regions (genes) of a genome, which is actually only around 1% of the human genome. Our ability to do both the sequencing and bioinformatics in-house means more comprehensive genetic tests can be turned around quickly, a matters of days compared to months. This means a potential increase in our ability to diagnose rare diseases and better treat patients.”

“We currently have the ability to analyse whole genomes but what we are aiming for in the future is clinical genome sequencing located in New Zealand. Currently, this is typically done offshore in Australia. The ability to sequence clinical genomes in New Zealand would make this process much faster - days instead of months - and will support data privacy as the patients sample and data remains within New Zealand. There is also the possibility for commercial clinical exome sequencing.”

The team is already working with clinicians and scientists New Zealand wide and are keen to establish further collaborations internally and externally.

“All the bioinformatics work is open source – anyone can use and contribute to the pipelines that analyse genomic data”, says Leah.