SRS223 - Evaluating the costs and benefits of genomic pre-screening for abdominal aortic aneurysm

Abstract Background/Objectives Abdominal aortic aneurysm (AAA) is a polygenic disease, meaning that many genomic variants each contribute a small increase in the overall risk of developing the disease. Polygenic risk scores (PRS) aggregate this risk into a single value estimating an individual’s genomic susceptibility. One potential use for PRS is to identify people at elevated risk of disease to target prevention strategies. For diseases without an existing screening programme, the patient benefits are clear. However, when screening is already offered at the population level and incorporating genomic risk leads to a reduction in the number screened, the impact is more complex. Methods Using a PRS for abdominal aortic aneurysm, the cost-effectiveness of the current UK screening program has been compared with an intervention where genetic pre-screening determines eligibility for invitation. Results Pre-screening offers a more cost-effective alternative to population wide screening in a scenario where genomic risk information is freely available. However, on average, this results in a reduction in benefits to patients with aneurysms due to worse outcomes from undetected cases. Conclusions Pre-screening will result in a loss of benefits to AAA patients unless genomic prediction is perfectly accurate. Better disease prediction, especially identifying patients with poor outcomes, can limit the loss of these benefits and maximise the cost-effectiveness of the programme. Money saved from screening fewer patients could improve overall patient benefit by freeing resources to fund services or interventions offering better value for money.