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Correspondence on “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions” by Lavelle et al

  • Scott D. Grosse
    Correspondence
    Correspondence and requests for materials should be addressed to Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, NE, Mail Stop D-72, Atlanta, GA 30333.
    Affiliations
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA
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  • James M. Gudgeon
    Affiliations
    Salt Lake City, UT
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Published:September 21, 2022DOI:https://doi.org/10.1016/j.gim.2022.08.030
      Lavelle et al
      • Lavelle T.A.
      • Feng X.
      • Keisler M.
      • et al.
      Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
      have published an important modeling assessment of exome sequencing (ES) and genome sequencing (GS) in 2 types of pediatric patients. They concluded that first-line rapid GS (rGS) is likely to be cost-effective for diagnosing critically ill babies with suspected genetic disorders relative to the standard of diagnostic care, defined as including other types of genetic and laboratory tests, which is consistent with other studies.
      • Kingsmore S.F.
      • Cole F.S.
      The role of genome sequencing in neonatal intensive care units.
      ,
      • Sanford Kobayashi E.
      • Waldman B.
      • Engorn B.M.
      • et al.
      Cost efficacy of rapid whole genome sequencing in the pediatric intensive care unit.
      Lavelle et al
      • Lavelle T.A.
      • Feng X.
      • Keisler M.
      • et al.
      Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
      also concluded that first-line rGS dominates (costs less and is at least as effective) alternative testing strategies, including first-line rapid ES (rES). We believe that it is premature to conclude that rGS dominates rES for 2 primary reasons. First, the relative difference between rES and rGS testing costs may be substantially greater than the 14% differential assumed in their model (ie, $10,320 [±$3600] for trio rES vs $12,000 [±$3000] for trio rGS based on 2019 laboratory prices).
      • Lavelle T.A.
      • Feng X.
      • Keisler M.
      • et al.
      Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
      Second, the relative difference in diagnostic yield of rES and rGS may be less than the roughly 25% assumed in their model.
      • Lavelle T.A.
      • Feng X.
      • Keisler M.
      • et al.
      Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
      Based on published estimates, rES in critically ill babies may be, at least in some settings, similar in effectiveness while costing substantially less than rGS.
      • Kingsmore S.F.
      • Cole F.S.
      The role of genome sequencing in neonatal intensive care units.
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      References

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        • Feng X.
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        • et al.
        Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
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      Linked Article

      • Response to Grosse and Gudgeon
        Genetics in Medicine
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          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.”1 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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