Clara Marquina1, Paul Lacaze1, Jane Tiller1, Moeen Riaz1, Amy C Sturm2, Mark R Nelson1,3, Brian A Ference4, Jing Pang5, Gerald F Watts5,6,7, Stephen J Nicholls1, Sophia Zoungas1, Danny Liew1, John McNeil1, Zanfina Ademi1. 1. School of Public Health and Preventive Medicine, Monash University, 553 St Kilda Rd, Melbourne, VIC 3004, Australia. 2. Genomic Medicine Institute, 100 North Academy Avenue, Geisinger, PA 17822, USA. 3. Menzies Institute for Medical Research, 17 Liverpool St, Hobart, TAS 7000, Australia. 4. University of Cambridge, Centre for Naturally Randomised Trials, The Old Schools, Trinity Ln, Cambridge CB2 1TN, UK. 5. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, 35 Stirling Hwy, Perth, WA 6009, Australia. 6. Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Victoria Square, Perth, WA 6000, Australia. 7. Lipid Disorders Clinic, Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Victoria Square, Perth, WA 6000, Australia.
Abstract
AIMS: The aim of this study was to assess the impact and cost-effectiveness of offering population genomic screening to all young adults in Australia to detect heterozygous familial hypercholesterolaemia (FH). METHODS AND RESULTS: We designed a decision analytic Markov model to compare the current standard of care for heterozygous FH diagnosis in Australia (opportunistic cholesterol screening and genetic cascade testing) with the alternate strategy of population genomic screening of adults aged 18-40 years to detect pathogenic variants in the LDLR/APOB/PCSK9 genes. We used a validated cost-adaptation method to adapt findings to eight high-income countries. The model captured coronary heart disease (CHD) morbidity/mortality over a lifetime horizon, from healthcare and societal perspectives. Risk of CHD, treatment effects, prevalence, and healthcare costs were estimated from published studies. Outcomes included quality-adjusted life years (QALYs), costs and incremental cost-effectiveness ratio (ICER), discounted 5% annually. Sensitivity analyses were undertaken to explore the impact of key input parameters on the robustness of the model. Over the lifetime of the population (4 167 768 men; 4 129 961 women), the model estimated a gain of 33 488years of life lived and 51 790 QALYs due to CHD prevention. Population genomic screening for FH would be cost-effective from a healthcare perspective if the per-test cost was ≤AU$250, yielding an ICER of <AU$28 000 per QALY gained. From a societal perspective, population genomic screening would be cost-saving. ICERs from societal perspective remained cost-saving after adaptation to other countries. CONCLUSION: Based on our model, offering population genomic screening to all young adults for FH could be cost-effective, at testing costs that are feasible. Published on behalf of the European Society of Cardiology. All rights reserved.
AIMS: The aim of this study was to assess the impact and cost-effectiveness of offering population genomic screening to all young adults in Australia to detect heterozygous familial hypercholesterolaemia (FH). METHODS AND RESULTS: We designed a decision analytic Markov model to compare the current standard of care for heterozygous FH diagnosis in Australia (opportunistic cholesterol screening and genetic cascade testing) with the alternate strategy of population genomic screening of adults aged 18-40 years to detect pathogenic variants in the LDLR/APOB/PCSK9 genes. We used a validated cost-adaptation method to adapt findings to eight high-income countries. The model captured coronary heart disease (CHD) morbidity/mortality over a lifetime horizon, from healthcare and societal perspectives. Risk of CHD, treatment effects, prevalence, and healthcare costs were estimated from published studies. Outcomes included quality-adjusted life years (QALYs), costs and incremental cost-effectiveness ratio (ICER), discounted 5% annually. Sensitivity analyses were undertaken to explore the impact of key input parameters on the robustness of the model. Over the lifetime of the population (4 167 768 men; 4 129 961 women), the model estimated a gain of 33 488years of life lived and 51 790 QALYs due to CHD prevention. Population genomic screening for FH would be cost-effective from a healthcare perspective if the per-test cost was ≤AU$250, yielding an ICER of <AU$28 000 per QALY gained. From a societal perspective, population genomic screening would be cost-saving. ICERs from societal perspective remained cost-saving after adaptation to other countries. CONCLUSION: Based on our model, offering population genomic screening to all young adults for FH could be cost-effective, at testing costs that are feasible. Published on behalf of the European Society of Cardiology. All rights reserved.
Authors: Brandon K Bellows; Amit V Khera; Yiyi Zhang; Natalia Ruiz-Negrón; Henry M Stoddard; John B Wong; Dhruv S Kazi; Sarah D de Ferranti; Andrew E Moran Journal: J Am Heart Assoc Date: 2022-05-18 Impact factor: 6.106
Authors: Ari E Horton; Andrew C Martin; Shubha Srinivasan; Robert N Justo; Nicola K Poplawski; David Sullivan; Tom Brett; Clara K Chow; Stephen J Nicholls; Jing Pang; Gerald F Watts Journal: J Paediatr Child Health Date: 2022-07-15 Impact factor: 1.929