The next step in Australian genetic medicine
Australian researchers from the Garvan Institute of Medical Research are developing a ground breaking database of human genetic information using the unique facilities and expertise of the National Computational Infrastructure.
The Medical Genome Reference Bank (MGRB), run by the Garvan Institute of Medical Research and funded by NSW Office for Health and Medical Research, will be comprised of over 4000 complete human genomes from disease-free seniors. The MGRB participants come from two contributing studies, 45 and Up (Sax Institute, Sydney), and the ASPirin in Reducing Events in the Elderly (ASPREE) clinical trial (Monash University, Melbourne). They are 70 years or older and free from cardiovascular disease, degenerative neurological disorders and of a history of a cancer.
Assembled in a huge genomic database, the fully anonymised information can then be queried by researchers, clinicians and doctors. “The power comes from the scale of the population in the study,” says Dr Andrew Stone. Compared to other genome reference banks, “we have an extensive healthy elderly population, with a well curated clinical history, and therefore the MGRB will represent the cleanest negative control for any source of genomics driven clinical experiment.”
As Dr Warren Kaplan puts it, a negative control means that if a doctor investigating a particular genetic variation “looked in the MGRB and not a single individual had it, that might be suggesting that that variation is damaging and quite rare.” The negative control indicates that any rare variants that they find in patients that don’t occur in the data set are likely to play an important role in causing the disease.
Each completed genome takes up around 100 gigabytes, and reconstructing it from the sequenced data is not easy. “Considering the large amount of data and compute associated with such a massive project, it was immediately obvious to us that we would need to collaborate with the NCI,” says Dr Stone.
“None of this would have been feasible”, Dr Kaplan says, “without the expertise that the NCI have working with the infrastructure, the security, high performance computing and cloud. It really is an amazing place and that’s why we’re so enthusiastic about this partnership.”
Once completed, the MGRB will be a major hub for researchers and clinicians from all over Australia. Dr Kaplan says the aim “is to have a single home for all genomic data so all researchers and all clinicians can come and apply their computational method against the data instead of moving the data around the world and to different organisations.”