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Response to Grosse and Gudgeon

Published:September 27, 2022DOI:https://doi.org/10.1016/j.gim.2022.08.031
      In this issue, Grosse and Gudgeon raise important points regarding our recent publication, “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.”
      • Lavelle T.A.
      • Feng X.
      • Keisler M.
      • et al.
      Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
      Our paper, which evaluated the cost-effectiveness of exome sequencing (ES) and genome sequencing (GS), found that GS is likely to be cost-effective for critically ill infants with suspected genetic conditions, and under certain assumptions, for all children with suspected genetic conditions. We also found GS to be more cost-effective than ES, but that under scenarios in which GS is not available, ES provides diagnostic and health benefits almost as efficiently as GS (ie, it yields nearly the same health benefits per dollar).
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      References

        • Lavelle T.A.
        • Feng X.
        • Keisler M.
        • et al.
        Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
        Genet Med. 2022; 24: 1349-1361https://doi.org/10.1016/j.gim.2022.03.005
        • Grosse S.D.
        • Gudgeon J.M.
        Cost or price of sequencing? Implications for economic evaluations in genomic medicine.
        Genet Med. 2021; 23: 1833-1835https://doi.org/10.1038/s41436-021-01223-9
        • Schwarze K.
        • Buchanan J.
        • Fermont J.M.
        • et al.
        The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
        Genet Med. 2020; 22: 85-94https://doi.org/10.1038/s41436-019-0618-7
        • Jegathisawaran J.
        • Tsiplova K.
        • Hayeems R.Z.
        • et al.
        Trio genome sequencing for developmental delay and pediatric heart conditions: a comparative microcost analysis.
        Genet Med. 2022; 24: 1027-1036https://doi.org/10.1016/j.gim.2022.01.020
        • Farnaes L.
        • Hildreth A.
        • Sweeney N.M.
        • et al.
        Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
        NPJ Genom Med. 2018; 3: 10https://doi.org/10.1038/s41525-018-0049-4
        • Tsiplova K.
        • Zur R.M.
        • Marshall C.R.
        • et al.
        A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
        Genet Med. 2017; 19: 1268-1275https://doi.org/10.1038/gim.2017.47
        • Jegathisawaran J.
        • Tsiplova K.
        • Hayeems R.
        • Ungar W.J.
        Determining accurate costs for genomic sequencing technologies-a necessary prerequisite.
        J Community Genet. 2020; 11: 235-238https://doi.org/10.1007/s12687-019-00442-7
        • Manickam K.
        • McClain M.R.
        • Demmer L.A.
        • et al.
        Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
        Genet Med. 2021; 23: 2029-2037https://doi.org/10.1038/s41436-021-01242-6
        • Souche E.
        • Beltran S.
        • Brosens E.
        • et al.
        Recommendations for whole genome sequencing in diagnostics for rare diseases.
        Eur J Hum Genet. 2022; 30: 1017-1021https://doi.org/10.1038/s41431-022-01113-x
        • Lionel A.C.
        • Costain G.
        • Monfared N.
        • et al.
        Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
        Genet Med. 2018; 20: 435-443https://doi.org/10.1038/gim.2017.119

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