Showcasing Early Career Researchers in the Econ-Omics SIG

This webinar will focus on the research of early career researchers (ECRs) who are members of the IHEA Econ-Omics SIG. Two ECRs will present their work: Ka Keat Lim (King’s College London) and Michael Abbott (University of Aberdeen). The webinar will last for one hour. Each ECR will present for 20 minutes, leaving 10 minutes for feedback and questions from the audience.

Presentation One

Genetic-guided pharmacotherapy for cardiovascular diseases: A systematic review of economic evaluation

Ka Keat Lim (King’s College London)

Cardiovascular diseases (CVD) pose a significant burden to health systems and incur large economic costs. The role of genes in predisposing to CVD and in modifying response to CVD pharmacotherapy makes genetic testing a practical tool to optimise CVD pharmacotherapy. While genetic tests are not currently recommended as usual care, growing clinical evidence suggests that genetic testing may have a role in preventing adverse outcomes. In this systematic review, we aimed to examine the extent and the quality of evidence from economic evaluations of PGx in CVD.

Bio: Ka Keat is a health economist working as a research fellow at King’s College London. He designs and performs economic evaluations, longitudinal data analyses and systematic reviews, with stronger interest in screening and chronic conditions. His current projects examine genetic testing, rehabilitation programmes, and medical devices.

Presentation Two

A Cost-Effectiveness Analysis of Genome-Wide Sequencing Strategies for Developmental Delay Diagnosis in Scotland

Michael Abbott (University of Aberdeen)

Aim: To evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in the Scottish NHS.

Methods: Six genetic and genomic testing strategies were evaluated for the diagnosis of developmental disorders using a decision tree model. Strategies included trio genome sequencing (GS), trio exome sequencing (ES) and standard genetic testing at various timepoints in the care pathway. The cost effectiveness of each strategy was expressed in terms of incremental cost per additional diagnosis. A threshold and probabilistic sensitivity analysis explored the impact of uncertainty on cost-effectiveness results.

Results: 2nd-line ES was a cost-saving option, increasing diagnostic yield by 14% and decreasing cost by £1,115 compared to standard genetic testing. Strategies involving GS increased costs significantly, with only a moderate or zero improvement in diagnostic yield compared to ES. A threshold analysis indicated that the cost of trio GS would need to fall to £2,154 before 1st-line GS becomes cost effective.

Discussion and Conclusions: 2nd-line ES (after chromosomal microarray; replacing gene panel testing) for the diagnosis of developmental disorders is a cost-saving option for the Scottish NHS. Ongoing economic evaluation is required to monitor the evolving cost and diagnostic yield of GS and ES over time.

Bio: Michael is a Research Fellow and PhD student at the Health Economics Research Unit, University of Aberdeen. His current research involves conducting an economic evaluation of genome-wide sequencing for rare disease diagnosis. In his PhD, he is exploring patient preferences for genome sequencing using a discrete choice experiment.