Genomics might be the key to primary prevention of cardiovascular disease

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Australia’s healthcare resources are limited and, therefore, health interventions and therapeutics need to be shown to be cost-effective before governments and insurers will agree to provide them to, or subsidise them for, healthcare consumers. 


However, many health economic models are still finite, especially regarding the primary prevention of cardiovascular disease (CVD) - the world’s leading cause of death.


A team of health economic researchers, led by Monash University, have published a review outlining their novel idea that integrating genomics into the health economic modelling for CVD has the potential to markedly enhance the efficient targeting of newer therapeutics and transform our approach to the primary prevention of CVD.


Associate Professor Zanfina Ademi from Monash’s Centre for Medicine Use and Safety (CMUS) and lead author of the review, said that ‘primary prevention’ refers to the steps taken by an individual to prevent the onset of CVD. 


“Current health economic models for primary prevention of CVD are at risk of significantly underestimating the benefits of existing and newer therapeutics by neglecting well-known disease biology,” said Professor Ademi.


The current gaps in health economic models for CVD essentially means that we might be denying the public access to cost-effective interventions, or inappropriately funding interventions that are not cost-effective.”


In this review the authors discuss some limitations to current health economic models and then outline an approach to address these via the incorporation of genomics into the design of health economic models for CVD.


“We propose that when a randomised clinical trial is not possible or practical, health economic models for primary prevention of CVD should be based on the results of naturally randomised trials informed by Mendelian randomisation analysis, because these incorporate well-known disease biology and account for the cumulative effects of modifying causal risk factors for CVD,” said Associate Professor Ademi.


In epidemiology, Mendelian randomisation is a method using measured variation in genes to interrogate the causal effect of an exposure on an outcome.


CMUS Research Fellow and review co-author, Jedidah Morton, said that the health economic argument for integrating genomics into clinical practice has the potential to shift CVD treatment from a reactive to a preventive approach.


“The decreasing cost and availability of genetic data has led to a marked increase in the use of genetics to answer questions of fundamental biology, clinical medicine, and epidemiology; however, despite this, uptake of genomics into health economics has been limited,” said Mr Morton.


“This is a deficiency that needs addressing as there is accumulating genetic evidence that major risk factors for CVD affect the disease proportional to cumulative exposure, suggesting that earlier detection and intervention to prevent CVD may be more beneficial than current health economic approaches suggest.”


The review is the first paper to be published off the back of a 2022 National Health and Medical Research Council Ideas Grant entitled ‘A novel approach to integrating genomics into the health economic modelling of therapeutics.’


In collaboration with Professor Brian Ference from Cambridge University, the grant team is using UK Biobank data to develop a health economic model that will integrate the biology of disease to predict future lifetime costs and outcomes for CVD. 


From there, the next step is to test the cost-effectiveness of complex novel therapeutics for people with CVD and, ultimately, to make these platforms available to researchers and policy decision-makers. 

Other authors include Professor Danny Liew, Professor Stephen Nicholls and Professor Sophia Zoungas.

Period26 Aug 2022

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