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Garvan Institute Launches Medical Genome Reference Bank to Help Inform Disease Variant Studies


NEW YORK (GenomeWeb) – Last week the Garvan Institute of Medical Research in Australia launched the Medical Genome Reference Bank, the world's largest publicly available genome bank made up of healthy older people. 

The reference bank's development was funded by the Sydney Genomics Collaborative, a $24 million, 4-year program to boost genomic research across New South Wales. The bank is one of three major projects supported by the Sydney Genomics Collaborative. The collaborative is funded by the NSW Health, the federal health services organization for New South Wales, Australia.

The NSW Minister of Health, Jillian Skinner, announced the launch of the first 1,200 genome sequences in the reference bank at the second Sydney Genomics Collaborative Symposium hosted by Garvan. The number of genomes in the reference bank will increase from 1,200 to 4,000 during 2017, which will make it the largest Australian genomic cohort.

The reference bank, which is publicly available through the Garvan Institute, is made up of samples from healthy individuals over the age of 70 who have no history of cardiovascular disease, neurological disease, or cancer, said Marcel Dinger, co-leader of the Medical Genome Reference Bank head of the Kinghorn Center for Clinical Genomics, and professor at the Garvan Institute. The sequences are sourced from participants in two leading Australian research studies in older people: The ASPirin in Reducing Events in the Elderly (ASPREE) study and the 45 and Up study.

Garvan chose to take sequences from these existing cohorts because they included detailed phenotypic information, Dinger said. This makes them an ideal healthy control cohort since they would theoretically be depleted of variants that are causative of disease, he added. 

Researchers can use the reference bank to more easily pinpoint variants that are causative of different diseases of interest. "It adds value to every other study out there," Dinger said. 

Currently, the cohort is limited to people of primarily European Caucasian descent. However, Dinger hopes that they will be able to include more ethnic diversity in the future..

Dinger said that while this was the first time the institute had released this data, it had already garnered interest from a number of institutions interested in using the reference bank in their own research. "Other [institutions] can use this dataset to better interpret their own data," Dinger adds. 

The Garvan Institute already has plans to use the reference bank to help study a group of 1,000 individuals diagnosed with cancer at a young age, when it's more likely caused by a genetic trigger than an environmental trigger, Dinger said. The Garvan researchers plan to use the healthy cohort to help them identify genetic variants that might have caused the cancer diagnosis and could lead to better targets.

Dinger believes that many future projects will use the reference bank in a similar way to help identify the genetic basis of disease. There are already several collaborations with local hospitals that are studying immunodeficiencies and neurological diseases that plan to make use of the reference bank as a control cohort, he said. 

The other achievement is that the platform itself is designed to be open to allow other research groups to load their cohort data and share information, Dinger said.

"If it works it could be a really useful mechanism to share data, since cohort data often gets 'trapped' at institutions not for lack of good will to share the data but lack of a mechanism or platform to do so," Dinger said. 

The platform lets anybody load up a file with their cohort data and the Garvan Institute could publish it to make it accessible to the public, he said. The platform is also designed to take on different access tiers based on how individuals consented that their data could be used. 

"At the basic access tier you could just look at variant frequency information which is non-identifiable to any individual in the cohort, so that tends to be relatively easy to share that type of information," he said. "Then there is another access tier where you can get access to the genomic data [and another where] you are going back to the cohort data and get to see the clinical information."

However, loading other cohort data is "more of a future plan," Dinger said, as the group is just completing the rollout of the reference bank. "The proof of principle [for the platform] is with this cohort," he added.