Evaluating the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm
Year: 2024
Type: article
Abstract: As the heritability of abdominal aortic aneurysm (AAA) is high and AAA partially shares genetic architecture with other cardiovascular diseases, there is interest in whether genetic information could inform AAA screening strategies. Exploiting pleiotropy and meta-analysing summary data from large AAA studies, we constructed a polygenic risk score (PRS) for AAA. Compared with the low PRS tertile, the intermediate and high PRS tertiles had hazard ratios for AAA of 2.13 (95%CI 1.61, 2.82) and 3.70 (95%CI 2.86, 4.80) respectively, after adjusting for known clinical risk factors. Using simulation modelling, we compared PRS- and smoking-stratified screening with inviting men at age 65 and not inviting women (current UK strategy). In a futuristic scenario where genomic information is available on the population, our modelling suggests inviting male current smokers with high PRS earlier than 65 and targeting screening in female smokers with high/intermediate PRS at 65 and 70 respectively, may improve cost-effectiveness.
Source: Nature Communications
Authors: M. Kelemen, J. Danesh, E. Di Angelantonio, M. Inouye, J. O’Sullivan, L. Pennells, T. Roychowdhury, M. J. Sweeting, A. M. Wood, S. Harrison, L. G. Kim
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $6,790
Funders: NHS Blood and Transplant, Wellcome Trust, Scottish Government, UK Research and Innovation, National Institute for Health and Care Research, British Heart Foundation, Department of Health and Social Care, Public Health Agency, Chief Scientist Office, Scottish Government Health and Social Care Directorate, Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Health and Social Care Research and Development Division, NIHR Cambridge Biomedical Research Centre
Awards: G1211085472, G1351194392, G139696651, G1857818866, G2123105393, Large-scale integrative genomic studies of high-dimensional traits in cardiovascular diseases (renewal), G2493601830, G2537968379, Research Excellence (round 3), G370598735, G4194769985, G4753630297, Large-scale integrative molecular studies of CVDs in multi-ethnic cohorts, G5546567188, G587296758, G6526062327, Artificial intelligence to create equitable multi-ethnic polygenic risk scores that improve clinical care, G6690987417, G6781659469, G7267735475, The BHF Chair of Epidemiology and Medicine, Big Data for Complex Disease, Large-scale integrative studies of risk factors in coronary heart disease: from discovery to application (renewal). (Joint funding with MRC), G8346449347, Building a comprehensive aortic aneurysm and dissection prediction model incorporating genetic and non-genetic factors
OpenAlex ID: W4402540119