25 October 2018.

What are the genetic factors that make healthy, active ageing more or less likely? Researchers are hoping a groundbreaking new genetic database using blood samples from the Sax Institute’s 45 and Up Study will help unearth some of the answers.

Now nearing completion, the Medical Genome Reference Bank (MGRB) is a collection of the entire genetic sequences of 4000 healthy Australians over the age of 70. Participants are selected for inclusion if they have avoided major illnesses such as cardiovascular disease, dementia or cancer.

The MGRB is the first large-scale database in the world to analyse the genetic sequence of healthy older people, and it is also Australia’s largest collection of entire human genomes. Participants for this database come from the Sax Institute’s 45 and Up study, along with Monash University’s ASPREE study.

What makes this database so important is that it can act as a large healthy control group for researchers trying to understand which genetic variations cause disease and which ones don’t. The MGRB is also likely to speed up the process of genomic discovery and provide deep insights into the genetics of healthy ageing.

The data from the MGRB is available to outside researchers through the Garvan Institute in Sydney, subject to stringent access requirements and ethics approval.

A new research paper published in the European Journal of Human Genetics reports that DNA sequencing is now complete for all 4000 genomes in the MGRB, and that three-quarters of the samples have been fully analysed.

Dr Martin McNamara, Deputy CEO of the Sax Institute and co-author of the research paper, describes the MGRB project as a fantastic asset for global genomics research.

“The contribution from the Sax Institute’s 45 and Up Study is enabling researchers from around the world to compare healthy populations with groups who have different types of diseases to try and find new insights into the relationship between genetics and disease outcomes.”

Dr McNamara says this is the first contribution that the 45 and Up Study has made to precision medicine and genomics, but that there is much more to come.

“The Sax Institute has a major plan to build a large-scale collection of blood samples from 45 and Up Study participants. It will be used by researchers across a whole range of fields, not just for whole genome sequencing, but also to look for early markers of key chronic conditions like cancer, heart disease or certain neurological disorders. And it will drive the development of new interventions and screening processes to identify the people at risk.”

Dr McNamara says the 45 and Up biospecimen program is currently in the pilot phase and is gradually rolling out to all parts of New South Wales. When completed, it will have collected blood samples from around 50,000 participants in the 45 and Up Study.

“We already have lots of engagement with key researchers who are helping us plan this large-scale collection. There is a network of researchers out there who are drawn to our initiative and are very excited about what it can achieve.”

Access the research paper here

Learn more about the 45 and Up Study here