{
    "abstract": "This analysis evaluated the cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) from the perspective of Australian state hospital payers.\nA cost-utility analysis consisting of a decision tree and Markov cohort designed to calculate the difference in costs and health outcomes between two scenarios: (1) disease-modifying treatment (DMT) for SMA after diagnosis through NBS, and (2) DMT for SMA after diagnosis as symptoms appear. A population of 295,906 newborns was modeled, based on the total number of live births in Australia in 2023. Inputs included screening parameters, epidemiology inputs, SMA natural history data and DMT parameters (nusinersen and onasemnogene abeparvovec), costs, and health-related\u00a0quality of life parameters. Assumed participation in NBS was 100%. A one-way sensitivity analysis and probabilistic sensitivity analysis were conducted to examine the impact of parameter uncertainty.\nThere were 30 patients identified with SMA, of whom 25 patients would be eligible for presymptomatic treatment. NBS for SMA was dominant compared with no NBS for SMA. On a population level, NBS demonstrated a lifetime gain of 267 quality-adjusted life years (QALY) and incremental costs of -AUD$3,983,263 (i.e., cost savings). Every dollar invested in NBS would save hospitals $3.69. Deterministic and probabilistic sensitivity analyses demonstrated the robustness of the base-case results.\nNBS for SMA was dominant compared with no NBS for SMA in Australia from a state and territory payer perspective. Universal implementation of NBS for SMA would support access equity, as well as early diagnosis and treatment in infants with SMA, potentially leading to improved outcomes.",
    "authors": [
        {
            "affiliation": "Department of Neurology, The Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia. Ian.Woodcock@rch.org.au.\nNeuroscience Research, Murdoch Children's Research Institute, Parkville, VIC, Australia. Ian.Woodcock@rch.org.au.\nDepartment of Paediatrics, The University of Melbourne, Parkville, VIC, Australia. Ian.Woodcock@rch.org.au.",
            "firstname": "Ian R",
            "initials": "IR",
            "lastname": "Woodcock"
        },
        {
            "affiliation": "Department of Neurology, Sydney Children's Hospital Network, Sydney, NSW, Australia.\nUniversity of New South Wales, Sydney, NSW, Australia.",
            "firstname": "Didu S",
            "initials": "DS",
            "lastname": "Kariyawasam"
        },
        {
            "affiliation": "Department of Neurology and Department of Metabolic Medicine, Perth Children's Hospital, Perth, WA, Australia.\nSchool of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.",
            "firstname": "Maina P",
            "initials": "MP",
            "lastname": "Kava"
        },
        {
            "affiliation": "Department of Neurology, The Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.\nNeuroscience Research, Murdoch Children's Research Institute, Parkville, VIC, Australia.\nDepartment of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.",
            "firstname": "Eppie M",
            "initials": "EM",
            "lastname": "Yiu"
        },
        {
            "affiliation": "Department of Neurology, Women's and Children's Hospital, Adelaide, SA, Australia.",
            "firstname": "Damian",
            "initials": "D",
            "lastname": "Clark"
        },
        {
            "affiliation": "Novartis Pharmaceuticals Australia, Sydney, NSW, Australia.",
            "firstname": "Jane",
            "initials": "J",
            "lastname": "Adams"
        },
        {
            "affiliation": "Novartis Pharma AG, Basel, Switzerland.",
            "firstname": "Matthias",
            "initials": "M",
            "lastname": "Bischof"
        },
        {
            "affiliation": "University of New South Wales, Sydney, NSW, Australia.\nHTANALYSTS, Sydney, NSW, Australia.\nThe George Institute for Global Health, Sydney, NSW, Australia.",
            "firstname": "Adrian",
            "initials": "A",
            "lastname": "Peacock"
        },
        {
            "affiliation": "University of New South Wales, Sydney, NSW, Australia.\nHTANALYSTS, Sydney, NSW, Australia.\nThe George Institute for Global Health, Sydney, NSW, Australia.",
            "firstname": "Colman",
            "initials": "C",
            "lastname": "Taylor"
        },
        {
            "affiliation": "Department of Neurology, Women's and Children's Hospital, Adelaide, SA, Australia.\nSchool of Medicine, University of Adelaide, Adelaide, SA, Australia.",
            "firstname": "Nicholas J C",
            "initials": "NJC",
            "lastname": "Smith"
        }
    ],
    "conclusions": "NBS for SMA was dominant compared with no NBS for SMA in Australia from a state and territory payer perspective. Universal implementation of NBS for SMA would support access equity, as well as early diagnosis and treatment in infants with SMA, potentially leading to improved outcomes.",
    "copyrights": "\u00a9 2025. The Author(s).",
    "doi": "10.1007/s40120-025-00744-8\n10.1146/annurev-genom-102319-103602\n10.1186/s13023-017-0671-8\n10.1186/1471-2377-11-36\n10.1002/ana.25101\n10.3390/ijns10030056\n10.1016/j.nmd.2021.03.007\n10.3389/fpubh.2015.00214\n10.1136/jnnp-2021-326344\n10.1111/dmcn.15117\n10.1016/j.eclinm.2021.100742\n10.2147/DDDT.S214174\n10.20517/rdodj.2023.30\n10.3390/ijns8030045\n10.1016/j.jval.2022.06.010\n10.31128/AJGP-03-21-5924\n10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9\n10.1016/S2352-4642(22)00342-X\n10.1186/s13023-017-0724-z\n10.1016/j.nmd.2017.05.011\n10.3233/JND-180304\n10.1080/20016689.2019.1601484\n10.1186/s12962-020-00234-8\n10.1080/20016689.2021.1889841\n10.1007/s40120-023-00489-2\n10.1016/j.nmd.2024.03.005\n10.1186/s13023-020-01498-2\n10.1212/WNL.0000000000009715\n10.1111/j.1524-4733.2010.00700.x\n10.1038/s41436-019-0673-0\n10.1016/j.jpeds.2017.06.042\n10.1111/ene.13534\n10.1212/WNL.94.15_supplement.1640\n10.1016/j.nmd.2019.09.007\n10.1212/WNL.0000000000007527\n10.1002/ppul.24203\n10.1016/S1474-4422(21)00251-9\n10.1038/s41591-022-01866-4\n10.1038/s41591-022-01867-3\n10.1056/NEJMoa2009965\n10.1016/j.nmd.2020.08.258\n10.1212/WNL.94.15_supplement.1302\n10.1111/j.1651-2227.2006.tb02378.x\n10.1001/jamaneurol.2021.1272\n10.1542/peds.2012-2278\n10.1016/S0022-510X(96)00284-5\n10.1111/jpc.12291\n10.1080/13696998.2021.2013676\n10.36469/63185\n10.1186/s13023-016-0424-0\n10.1016/j.nmd.2017.11.005\n10.1016/j.nmd.2017.11.004\n10.1007/s11136-023-03558-z\n10.1016/j.jval.2020.04.805\n10.1016/j.jpeds.2020.07.033\n10.1007/s40261-024-01386-8\n10.1016/j.vhri.2023.11.004",
    "journal": "Neurology and therapy",
    "keywords": [
        "Cost-utility analysis",
        "Newborn screening",
        "Nusinersen",
        "Onasemnogene abeparvovec",
        "Spinal muscular atrophy"
    ],
    "methods": null,
    "publication_date": "2025-04-28",
    "pubmed_id": "40289052\n28676062\n21435220\n26200127\n29149772\n39189228\n33985857\n26442241\n34321343\n34839535\n33842861\n35734367\n35892475\n35963838\n35098272\n10679938\n36669516\n29183396\n28757001\n29614695\n31105909\n33041673\n33708361\n37222861\n38520993\n32838797\n32513788\n20230546\n31607747\n28711173\n29194869\n31704158\n31019106\n30548438\n34536405\n35715566\n35715567\n33626251\n33999158\n23610208\n9077498\n23834358\n34906030\n32685590\n27145956\n29290580\n29305137\n38085452\n32659229\n39172297\n38181723",
    "results": "There were 30 patients identified with SMA, of whom 25 patients would be eligible for presymptomatic treatment. NBS for SMA was dominant compared with no NBS for SMA. On a population level, NBS demonstrated a lifetime gain of 267 quality-adjusted life years (QALY) and incremental costs of -AUD$3,983,263 (i.e., cost savings). Every dollar invested in NBS would save hospitals $3.69. Deterministic and probabilistic sensitivity analyses demonstrated the robustness of the base-case results.",
    "title": "Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.",
    "xml": "<Element 'PubmedArticle' at 0x788505be8fe0>"
}