Barbara de Graaff1, Amanda Neil1, Lei Si1, Kwang Chien Yee2, Kristy Sanderson1, Lyle Gurrin3, Andrew J Palmer4. 1. Menzies Institute for Medical Research, Medical Science 2 Building, University of Tasmania, 17 Liverpool St, Private Bag 23, Hobart, TAS, 7000, Australia. 2. School of Medicine, Medical Science 1 Building, University of Tasmania, 17 Liverpool St, Private Bag 68, Hobart, TAS, 7000, Australia. 3. Melbourne School of Population and Global Health, University of Melbourne, 207 Bouverie St, Carlton, VIC, 3053, Australia. 4. Menzies Institute for Medical Research, Medical Science 2 Building, University of Tasmania, 17 Liverpool St, Private Bag 23, Hobart, TAS, 7000, Australia. Andrew.Palmer@utas.edu.au.
Abstract
INTRODUCTION: Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting. METHODS: A Markov model using probabilistic decision analysis was developed comparing four adult screening strategies: the status quo (cascade and incidental screening), genotyping with blood and buccal samples and transferrin saturation followed by genotyping (TfS). Target populations were males (30 years) and females (45 years) of northern European ancestry. Cost-effectiveness was estimated from the government perspective over a lifetime horizon. RESULTS: All strategies for males were cost-effective compared to the status quo. The incremental costs (standard deviation) associated with genotyping (blood) were AUD7 (56), TfS AUD15 (45) and genotyping (buccal) AUD63 (56), producing ICERs of AUD1673, 4103 and 15,233/quality-adjusted life-year (QALY) gained, respectively. For females, only the TfS strategy was cost-effective, producing an ICER of AUD10,195/QALY gained. Approximately 3% of C282Y homozygotes were estimated to be identified with the status quo approach, compared with 40% with the proposed screening strategies. CONCLUSION: This model estimated that genotyping and TfS strategies are likely to be more cost-effective screening strategies than the status quo.
INTRODUCTION: Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting. METHODS: A Markov model using probabilistic decision analysis was developed comparing four adult screening strategies: the status quo (cascade and incidental screening), genotyping with blood and buccal samples and transferrin saturation followed by genotyping (TfS). Target populations were males (30 years) and females (45 years) of northern European ancestry. Cost-effectiveness was estimated from the government perspective over a lifetime horizon. RESULTS: All strategies for males were cost-effective compared to the status quo. The incremental costs (standard deviation) associated with genotyping (blood) were AUD7 (56), TfS AUD15 (45) and genotyping (buccal) AUD63 (56), producing ICERs of AUD1673, 4103 and 15,233/quality-adjusted life-year (QALY) gained, respectively. For females, only the TfS strategy was cost-effective, producing an ICER of AUD10,195/QALY gained. Approximately 3% of C282Y homozygotes were estimated to be identified with the status quo approach, compared with 40% with the proposed screening strategies. CONCLUSION: This model estimated that genotyping and TfS strategies are likely to be more cost-effective screening strategies than the status quo.
Authors: Karl Johnson; Katherine W Saylor; Isabella Guynn; Karen Hicklin; Jonathan S Berg; Kristen Hassmiller Lich Journal: Genet Med Date: 2021-12-07 Impact factor: 8.822
Authors: Jone Tamosauskaite; Janice L Atkins; Luke C Pilling; Chia-Ling Kuo; George A Kuchel; Luigi Ferrucci; David Melzer Journal: J Gerontol A Biol Sci Med Sci Date: 2019-02-15 Impact factor: 6.053