Research begins using genomic data from 45 and Up Study
Genomes are being sequenced for the MGRB
45 and UpBiospecimens from 45 abnd Up Study participants have been sequenced for the MGRB
So far 200 researchers have  registered to access the Medical Genome Reference Bank data portal summary data.

Australia’s largest healthy ageing cohort – the 45 and Up Study – is set to become an even more valuable knowledge resource for researchers, decision makers and the community now that it can be used to examine the genomic profiles of Australia’s healthy older population.

The state’s first Medical Genome Reference Bank (MGRB), now includes about 3000 whole genome sequences from healthy people aged 70 and older, many of whom are participating in the 45 and Up Study. This will enable researchers to investigate the genetic variants underpinning disease.

Funded by the NSW State Government, the MGRB is run by the Kinghorn Centre for Clinical Genomics at the Garvan Institute of Medical Research, and contains biospecimens drawn from both the Sax Institute’s 45 and Up Study and the ASPREE (Aspirin in Reducing Events in the Elderly) study at Monash University.

Dr Warren Kaplan, Garvan Institute Chief of Informatics, said because the MGRB contained only the genomes of older people who were largely free of major diseases like cancer, cardiac and neurological disease, it could act as a powerful filter, enabling researchers to identify genetic variants linked to a wide range of diseases.

“The MGRB participants have lived to 70 years of age and are largely disease-free. Their genomes give researchers the chance to see whether a particular genetic variant observed in other patients with a particular disease is seen within this cohort. If it is seen within well, elderly people, then maybe it’s less likely to be associated with disease,” Dr Kaplan said.

“Conversely, it could be a disease-causing genetic variant that is rarely seen within the MGRB genomes. It is not definitive, but it can assist with building hypotheses.”

“The concept behind the MGRB is that we are all so obsessed with studying disease, that we don’t know what healthy looks like,“ he said. “This is a cohort of healthy older people that can act as a control to many other studies.”

Researcher access

Late last year, a data portal was launched enabling researchers to access data on the 1144 genomes which had been sequenced at that stage. The number of sequenced genomes in the MGRB recently expanded to 3000, with a further 1000 to be added by the end of this year.

Dr Kaplan said researchers could access the summary statistics of the MGRB genome variants through the data portal, including information such as gender, age, height and weight.

Researchers seeking to access data from the de-identified individual genomes within the MGRB could apply to a data access committee for approval, under a tiered data access system.

So far, more than 200 researchers have registered to access the summary data, and six projects have been approved to undertake research using the individual genomic data of MGRB participants.

The Office for Health and Medical Research is soon to announce the outcomes of its $2.46 million NSW Genomics Collaborative Grants Program launched late last year, which will give successful researchers the opportunity to undertake ground-breaking human genomic medicine research using the MGRB database.

45 and Up Study Director Margo Barr said researchers were also encouraged to apply to undertake research using the 3200 existing blood samples from Study participants. Those samples are currently stored at the Biobank managed by Cancer Council NSW and will form a part of the soon-to-be-established State Biobank run by Pathology NSW.

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