Studying genetic influences on health
What is genetic research?
Genetic research is a broad term for the study of traits passed down generations through the inheritance of genetic material (such as DNA). Genetic research has an important role in medical research.
Genes are the fundamental unit or ‘blue-print’ of life which can determine many of our physical traits such as eye colour and blood type. Genes also contribute, in combination with the environment, to more complex human traits such as personality, behaviour and the risk of developing a disease.
Humans have approximately 20,000 genes, each gene composed of a chemical called DNA (deoxyribonucleic acid). DNA gives the instructions or the chemical code to express traits, such as telling the body which type of protein to make and when. These proteins form part of a complex chain of events that impact on how we look and function.
Our health often has at least a small genetic component. Longevity that runs in families is an example of how genes may influence good health. Genetic research in older people aims to understand the role genetic make-up has on our health so that one day we may be able to better detect or prevent age-related diseases such as cancer, dementia and cardiovascular disease.
What does participation involve?
Thanks to rapid advances in technology, an individual’s entire genetic information can be studied through a process called genome sequencing. Genome sequencing reveals more about human genetics than ever before; it also reveals large expanses of the human genome that we know very little, if anything, about.
Genetic research is in many ways, pioneering. Samples donated by ASPREE participants to the Healthy Ageing Biobank will enable researchers to better understanding the role of our genes in health and ageing. Specific discoveries may take time to emerge, however their benefits and impact will be highly important for many years to come.
Frequently asked questions about ASPREE-G (Genomics)
Why is ASPREE studying genetics?
Since the ASPREE Healthy Ageing Biobank began in 2010, more than 15,000 Australian and US ASPREE participants have generously donated blood or saliva samples for future biomarker or genetic research. The explosion in technology, reductions in cost and new funding opportunities, has enabled ASPREE to launch genomics projects sooner than ever anticipated.
ASPREE is a unique resource for genetic research because unlike other studies:
- the ASPREE Healthy Ageing Biobank has the largest collection of biospecimens from healthy older people in the world
- it contains DNA samples from healthy people who have consented to genetic research (most genetic studies look at the genes from people with disease )
- all samples are of very high quality, maximising research opportunities
- each sample is associated with unprecedented health and lifestyle information to help bridge the link between our health and what is happening at a genetic level
It is important to note that genetic studies on ASPREE Biobank samples are for research purposes only and are not intended to be medical investigations or diagnostic tests.
What type of genetic research is ASPREE doing?
Because genetic research is a specialised field, ASPREE is collaborating with national and international scientific groups with the leading technologies and expertise to provide high quality analysis and interpretation of genetic information. Two major projects established so far are:
- The Medical Genome Reference Bank Project:
ASPREE and the Sax Institute’s ’45 and Up’ Study in NSW are collaborating with the Garvan Institute of Medical Research in Sydney to develop a Medical Genome Reference Bank. Funded by the NSW government and the Garvan Institute, this reference bank will help identify genes associated with healthy ageing.
Approximately 4,000 genomes from healthy people aged 75 years and over will be sequenced and analysed in this project. Genomes will come from participants in the ASPREE study and the Sax Institute’s ’45 and Up’ Study.
Genetic information from the genomes will be used to form a reference bank or library of ‘healthy genomes’ of the ‘wellderly’ (well older people). The ‘healthy’ reference bank can be used as a comparison by researchers to identify, more easily, genes that cause disease.
Like all ASPREE genomic studies (now and in the future) ASPREE samples are given a de-identifying code to protect the donor’s identity. No individual can be identified in reports of the findings.
The Garvan Institute in Sydney is one of the most respected research facilities in Australia and is recognised nationally and internationally. With their expertise, the reference bank will form the first genetic profile of this calibre of healthy older people in the world. This initiative, which began in 2016, will take several years to complete.
- The Resilience Project:
This project is a collaboration between the ASPREE Biobank and the Icahn Institute at the Mount Sinai School of Medicine in New York. The Icahn Institute has world-leading expertise and laboratory facilities to map and analyse very specific genetic information in a genome. It has been awarded grants from the NIH (National Institutes of Health), which is the same government agency that funded the ASPREE Clinical Trial in Australia and the US.
Called the ‘Resilience Project’, scientists at The Icahn Institute will examine approximately 700 genes from ASPREE Biobank participants in Australia and the US for the presence of genetic variations associated with disease. The aim is to identify and understand why healthy older people with these genetic variations remain free of disease when others do not.
Additionally, the Resilience Project may also help reveal to ASPREE researchers genes that can reliably predict the onset of cardiovascular disease, cancer, dementia and depression in older people.
It is expected to take several years before findings from the Resilience Project are known.
What is the difference between genetics and genomics?
“The main difference between genomics and genetics is that genetics scrutinizes the functioning and composition of the single gene whereas genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism.” (http://www.who.int/genomics/geneticsVSgenomics/en/ accessed 17 May 2016)
Genetics generally relates to the study of single genes that are inherited and passed down from one generation to the next, such as Huntington’s disease.
Genomics is the study of a person’s entire set of genes. A process called whole genome sequencing reveals all the DNA on each gene in a given individual. Whole genome sequencing is comparable to reading and remembering the position of every letter in a 20,000 page book.
Imagine you had two large books – each book of 20,000 pages represents a set of genes from your mother and one from your father. Every page in a book represents one single gene. The letters on each page represents the order of DNA on the genes. Genomic sequencing ‘reads’ every letter of every word on every page in one fell swoop.
Armed with the complete set of genetic information, researchers now have the means to discover how genes behave and interact with other genes, and how environmental factors such as diet, may affect gene function.
This may mean that in some studies, researchers seek to identify a variation, or a change or ‘mutation’ in a genetic pattern equivalent to finding one changed letter in a 20,000 page book!
Genomics also enables researchers to look for patterns in genes that may be associated with good health versus patterns associated with disease. For instance, samples from the ASPREE Healthy Ageing Biobank are contributing to The Medical Genome Reference Bank. This group of genetic patterns associated with good health in older people will help highlight in comparative samples, genetic variations that may be associated with disease.
Genomic sequencing generates very large amounts of data requiring extensive interpretation and analysis. It can take many years before scientists make important discoveries.
What are genetic mutations?
Mutations can cause problems if they interfere with how a gene functions. But not all mutations are bad for you; some genetic variants can help preserve good health. For instance, US researchers have recently discovered a mutation that seems to help protect some people from developing diabetes.
The Resilience Project is another study which aims to determine why in rare cases, some people have genetic mutations that would usually cause serious disease but remain otherwise healthy.
How is my privacy protected?
ASPREE takes very seriously the responsibility for protecting the confidentiality and privacy of ASPREE participants whose biobanked samples are involved in medical research. All ASPREE genomic research projects:
- are tightly governed by ASPREE and human research ethics committees and restricted to highly ethical, non-commercial, public-good studies
- must have formal ethics approval from the Alfred Hospital Human Research Ethics Committee (HREC)
- de-identify all samples, meaning the donor’s identity is never available to collaborating research organisations or laboratories and no individual can be identified in reports of the findings.
Are donors notified if their sample is included in a genetic study?
Samples donated to the Healthy Ageing Biobank form a collective resource (as far as we are aware this is the biggest collection of blood samples from healthy older people) to promote medical advancements for the benefit of the whole community.
The research focus is on new genetic discoveries that one day may improve medical diagnosis and treatment for future generations. These projects will vary in size, scope and duration and it will not always be feasible to identify each and every participant who has or has not had their sample included in a genetic study.
Can I get access to the genetic data?
At this early stage we recommend participants do not seek a copy of their genetic data for several reasons:
- Genetic data presents as a jumble of letters, including large sections which scientists know little, if anything, about. Much of the data has unknown meaning and significance. Research on ASPREE Biobank samples aims to advance medical discovery, step by step, often in highly specialised areas.
- Genetic data will offer little to no health benefit to ASPREE participants themselves. The chance that researchers do identify genetic findings of genuine medical importance to participants or their family is small. Genetic findings of known clinical significance are rare in healthy individuals and even rarer in healthy people over 70 years old who do not have any symptoms.
- There are potential ramifications for participants and their families. Participants are legally obliged to surrender known genetic information to insurance companies (as you would any medical information) at their request. In the future, it is possible that a participant’s family may have to disclose known genetic data as part of their family history.
- Genetic research is pioneering, particularly in older people. We cannot be certain of all future legal or health ramifications for people who have a copy of their genetic data, and/or their families.
In the unlikely event that researchers do discover a significant genetic finding (that may be of medical significance to a participant or their family) as a result of genetic research, ASPREE will be guided by the Alfred Hospital Human Research Ethics Committee (HREC) recommendations. Participants will be given the choice to accept or refuse genetic findings after taking time to consider potential implications for themselves and their family. Support would include access to expert research scientists and genetic counsellors to help answer questions related to the findings.
Could the results be used by insurance companies?
Australian citizens are legally obliged to disclose genetic information to insurance companies (as you would any medical information) at their request. It is possible that in the future, families may have to disclose known genetic data as part of their family history. For this reason we do not recommend participants seek a copy of their genetic data.
If an individual is not informed of their genetic data, there is no obligation to ever disclose findings research findings to insurers. Any research done by ASPREE will not be passed on to insurance companies. Genetic research findings will not be shared with participants without their full and informed consent.
Where can I find out more information about genomics?
A great place to start is this website: https://www.genome.gov/glossary/index.cfm?id=78
Can’t find the answer to your question? Please contact the ASPREE team on 1800 728 745 (toll free from a landline).