DNA-based tests may help identify people who might be at increased risk of chronic conditions, like diabetic kidney disease, stroke or heart disease.
Researchers from the University of Western Australia (UWA) and the Harry Perkins Research Institute are developing an innovative approach using DNA to predict risk of a wide range of chronic diseases, years before symptoms appear.
The team, led by Prof Grant Morahan and Dr Sylvia Young (pictured above) is applying their technology for conditions like heart disease, stroke, melanoma, dementia, multiple sclerosis and diabetic kidney disease. Prof Morahan is based at the University of Western Australia and is also Director of the Centre for Diabetes Research at The Harry Perkins Institute.
“We expect that the tests will allow identification of people at higher risk for these conditions. This will allow earlier intervention and better management. In the long run, defining the molecular mechanisms of disease will allow development of better treatments,” Prof Morahan told Medical Forum.
“For example, we know that people with hypertension identified by our test for heart attack risk are not protected by their current medications, suggesting these are not effectively targeting the molecular basis for this life-threatening condition,” he added.
About the tests
In recent decades, more than 2,000 gene variations have been identified as affecting the risk of complex genetic conditions. However, there has been little progress in applying these findings into clinical practice, partly due to the fact that these genetic variants only have a small impact on disease risk. Until now, no genetic test has been able to make clinically useful predictions about disease risk.
Now, Prof Morahan and his team have designed a novel analysis method that detects “Genetic Risk Signatures” using large datasets of genetic data to analyse billions of interactions between networks of genetic variants.
Potential to help half of all Australians
Nearly half of all Australians suffer from at least one major chronic condition, according to current data from the Australian Institute of Health and Welfare. For most of these people, their chronic condition is associated with an increased risk of other health problems.
People with diabetes, for example, have an increased risk of developing complications like diabetic kidney disease (DKD). Having DKD also increases the risk of cardiovascular disease (CVD), a leading cause of death among people with diabetes. However, not everyone with diabetes goes on to develop DKD, and there is currently no way to determine who will develop DKD and who will not.
The standard approach is to monitor all patients for early signs of disease, but this is not the optimal approach for everyone. “Currently, clinical management is to optimize control of risk factors like blood sugar levels, and monitoring for early signs of complications. This can reduce risk but large numbers of people not needing interventions are treated, while a significant proportion of people go unidentified and do not receive more intensive therapies. A more targeted approach is needed,” Prof Morahan told Medical Forum.
“Identifying people at high risk of developing diabetes complications could lead to them being treated earlier and more effectively, delaying or even preventing these dreadful complications,” he added.
The same approach can be applied to other conditions, Prof Morahan explains. “We could provide tests when people are diagnosed with an underling condition. So, when someone gets high blood pressure, test for MI and stroke risk; for diabetes, test for DKD risk; when a woman is pregnant, test for risk of pre-eclampsia; when someone is diagnosed with melanoma, test for risk of death from that cancer,” he said.
A project in need
Despite the promising results and the potential of these DNA tests, Prof Morahan says that the current status of most of their DNA tests is in “limbo”, due to a lack of funding.
“We have pilot versions of these tests now and shown that they are more effective than current medical tests. Funding is required to validate them in further cohorts, obtain regulatory approval and move them to clinical use”.
So far, the team has obtained funding from the MTP Connect program to develop a test for heart disease.
But funding is needed for regulatory approval of the tests for other conditions, such as DKD and melanoma survival. Prof Morahan says that they would welcome investors interested in commercialising their DNA testing technology so that it can help people at risk of these common health problems.