One of the biggest causes of heart disease in Australia will now be easier to diagnose thanks to NCI’s integrated data storage, supercomputer and cloud computing systems.

A collaboration of two major Australian medical research institutes and Harvard Medical School found that whole genome sequencing is an effective method for diagnosing dilated cardiomyopathy.

The newly applied genetic test uses a patient’s entire genome sequence to pick up more genetic changes, or variants, than other methods. This makes diagnosis more likely, and makes it easier for researchers to learn more about how the disease works.

The research used NCI as a platform to bring the genomics and bioinformatics expertise from the Garvan Institute of Medical Research and heart disease biology and clinical expertise from the Victor Chang Cardiac Research Institute together.  The primary innovation that NCI supported was to develop ClinSV, a bioinformatic method to identify a class of large genetic changes, known as structural variations. This assisted in diagnosis of one patient’s heart disease, and has subsequently been clinically accredited.

Dr Mark Cowley from the Garvan Institute’s Kinghorn Centre for Clinical Genomics says that NCI played an important role in the outcome of this project.

“NCI was critical to this research. We were able to do develop, and optimise novel bioinformatic approaches to understand the data, leveraging the high-performance platform and data storage capability at NCI,” he says.

“In addition, being able to access the data in a virtual environment using NCI’s cloud computing made sharing data with collaborators that much easier.”

The knowledge and skills that the researchers gained from this work will be applied to look deeper at the genetic causes of other diseases, including kidney, neurological and developmental diseases, and cancer.

Dr Cowley says, “Whole genome sequencing can be applied to the diagnosis of almost all genetic conditions .”

As we get further into a world of genomic medicine, the power of NCI’s world-class computing and data storage facilities will be continue to be in high demand.

This research highlight was originally published in the 2017-2018 NCI Annual Report.