Advanced cardiovascular disease risk tests on the horizon

To harness opportunities for better health from genetic information, scientists need access to large family datasets. In this innovative project, researchers from University of Tasmania and the Baker Heart & Diabetes Institute capitalised on the iconic and long running (50 years) Busselton Health Study (BHS) to explore risks of cardiovascular disease (CVD). The BHS includes over 4,500 people in the Shire of Busselton, Western Australia, creating one of the largest unique data resources for pivotal biochemistry and genetics studies. 

The risk of developing CVD is about half due to genetic factors and half due to other external factors. But there are missing risk factors which drove the underlying research questions for Professors Eric Moses and Professor Peter Meikle.

“We wanted to understand the relationship between metabolism and disease, so we combined lipidomics¹, genomics, statistics and clinical data and generated novel insights with incredible potential for practical applications,” said Professor Eric Moses. 

The lipidome provides a window into the environmental influence on metabolism and risk of CVD. The researchers analysed over 600 lipids tied to DNA sequences of over 4,500 people from the BHS. They honed lipidomic risk scores using 250 relevant lipids for predictive modelling.

“We’ve moved well beyond using basic HDL and LDL cholesterol measures and are at the stage of translating that into a new clinical test. We plan to trial it in the next few years,” said Professor Meikle.

The goal is more effective risk-based testing of specific lipidomic risk factors and preventing cardiovascular events, ultimately improving treatment strategies for individuals at risk. 

The team has produced a web portal for researchers worldwide to access the datasets, achieved high-profile publications and received many requests to collaborate.

“While we’ve brought some computers to their knees with the amount of computational load and the development of new algorithms, this research has demonstrated what's possible when you bring lipidomics and genomics together,” chuckled Professor Moses.

Importantly, the professors actively engaged with the Busselton community and believe that the sense of ownership among participants is important.

“The Busselton board, community and the Heart Foundation are thrilled with what we’ve found,” said Professor Meikle.

“This research has been an incredible enabler to drive the combination of multiple datasets and create new tests,” said Professor Moses. 

“I’ve always wanted to make a difference in human health, and I thank my mother, who was a nurse, for that inspiration. We’re grateful to the families for sharing their health data with scientists like us.” he said.

Next steps

A new NHMRC grant will help Professors Moses and Meikle explore the options to develop a new tool for predicting CVD risk in women who've had preeclampsia. Preeclampsia, a pregnancy disorder, has been shown to be a risk factor for CVD in women.

The researchers are also using some of the same data from this project with other datasets to explore Alzheimer's disease and autism.

Chief Investigators: Professor Eric Moses and Professor Peter Meikle 

Team Members: Dr John Blangero (UTRGV USA), Associate Professor Phillip Melton (UTAS Menzies), Dr Joseph Hung (UWA), Dr John Beilby (PathWest), Dr Gemma Cadby (UWA), Professor Gerald Watts (UWA), Professor Marie-Pierre Dubé (Montreal Heart Institute), Professor Frank Van Bockxmeer (RPH)

Institutions: University of Tasmania and the Baker Heart & Diabetes Institute

 Grant information: Project Grant (2016–2022), $2,281,268.84