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Approved Research

A novel approach integrating genomics into the health economic modelling of therapeutics

Principal Investigator: Professor Zanfina Ademi
Approved Research ID: 88775
Approval date: July 13th 2022

Lay summary

For people at risk of chronic disease, it is often better to start treatment early to prevent or delay the disease altogether, rather than the all-too-common approach of waiting until overt disease develops before intervening. However, even if at high risk of the disease of their lifetime, it is often difficult for younger and middle-aged people without overt disease to access newer therapeutics. This is because treatments only become widely available when shown to be cost-effective, and current health economic models (which underpin these cost-effectiveness analyses) often do not account for the high lifetime risk of chronic disease in some individuals.

Genetic risk scores can now predict the long-term risk of chronic disease from birth, and thus it is possible to identify individuals most likely to benefit from early intervention to prevent disease. In this project, we will use genetic risk scores to identify populations at high lifetime risk of chronic disease, and evaluate the costs and benefits of targeting health interventions to them early in life, before their chronic disease develops.

This will involve first assessing which individuals, by virtue of their genome, are likely to benefit most from certain interventions (for example, some individuals have genetically high cholesterol levels that predispose them to heart disease and are thus likely to benefit most from early cholesterol-lowering treatments). We can then estimate the lifetime risk of chronic disease in these individuals. These estimates then form the basis of our health economic model. We can then use this model to project the costs and benefit of intervening (compared to not intervening).

Unfortunately, due to limited healthcare resources, just proving benefit of an intervention does not guarantee that payers (the government and/or health insurers) will make this intervention available, particularly when the intervention is expensive. Payers usually require evidence of cost-effectiveness to provide access to interventions. Therefore, the key outcome of this project will be to develop a new framework for how new interventions are made available, or how existing interventions targeted to new populations, with the ultimate aim of increasing access to healthcare in a cost-effective manner.