The key to understanding healthy ageing
The genes of thousands of older Australians who have no history of disease are undergoing sequencing at the Garvan Institute to contribute to the Medical Genome Reference Bank. The database is expected to be finished early next year and will be opened to researchers around the globe as a resource to discover the genetic factors that contribute to healthy ageing.
A genome refers to all the genetic information of an individual that is inherited from their parents and it is encoded within DNA. This genome bank is the largest in the world and unlike many other genome banks, which store data on people with health concerns, this bank will analyse healthy genomes so scientists can understand what healthy ageing looks like.
To get a better idea of how beneficial this new bank of genome data will be, Over60 spoke to the project co-leader, Associate Professor Marcel Dinger, about three advantages the Reference Bank will have for healthy ageing.
1. Filtering disease and non-disease-causing variants
The reference bank will be used to compare genomes from people with no disease history with those who have had disease to filter disease and non-disease variants. This will provide an ultimate genetic reference of what a healthy genome is and allow researchers to understand the genetic reason as to why some people do not get cancer and other diseases.
“The primary motivation of the database is that it helps filter out those millions of variants that are what we call benign, they don’t have an impact on health and are just part of what makes each of us different,” Associate Professor Dinger said.
This genomic data will allow experts to research whether healthy individuals are depleted of genetic variations that can cause neurological or cardiovascular disease or, if they have a genetic advantage that has a protective effect against diseases.
This then “opens the opportunity for developing new therapeutics and may make it possible for other people to live longer if we understand the cause.”
2. Identifying people at risk
“In the long term, it can help predict who is susceptible to disease, identify those people most at risk who can then be enrolled in screening programs,” Associate Professor Dinger explained.
Associate Professor Dinger hopes that in the future, an individual at birth could be tested to see if they have diseasing causing variants. If they did, they could then have early intervention to prevent the disease.
“I think what we might see as a general trend, is genomic sequencing moving from being used to diagnose patients – individuals that already have a disease – towards preventative medicine where you are able to anticipate disease or an individual’s predisposition to disease,” he said.
“Normally, you only go to a doctor when you are sick whereas I think in the future, that genomics will start to play more of a role in disease prevention and health management.”
3. Interpreting the non-coding parts of the genome
The genome is broken down into two parts of genetic material: the protein coding parts and the non-coding part of the genome. Associate Professor Dinger expects the Medical Genome Reference Bank will allow experts to interpret the non-coding parts of the genome, which is currently not well understood. “I think we will find a lot of the causes of disease, especially more complex disease, in the non-coding part of the genome, which tend to be responsible for controlling which genes are expressed and when. That’s a very new area for genomics,” he said.
As more research is undertaken to identify disease-causing variants, Associate Professor Dinger believes that genomic data will have a transformative impact on the medical world in the immediate future.
“Having genetic information available at the beginning of a person’s life has this enormous potential both to improve the quality of care and the efficiency of treatment for people with disease.”
For more information or to support Garvan’s research into Genomes, please visit garvan.org.au.
THIS IS SPONSORED CONTENT BROUGHT TO YOU IN CONJUNCTION WITH THE GARVAN INSTITUTE OF MEDICAL RESEARCH.