Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-11-20

AUTHORS

Robin Z. Hayeems, Jasmin Bhawra, Kate Tsiplova, M. Stephen Meyn, Nasim Monfared, Sarah Bowdin, D. James Stavropoulos, Christian R. Marshall, Raveen Basran, Cheryl Shuman, Shinya Ito, Iris Cohn, Courtney Hum, Marta Girdea, Michael Brudno, Ronald D. Cohn, Stephen W. Scherer, Wendy J. Ungar

ABSTRACT

The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare activities prompted by WGS and CMA were ascertained for 101 children with developmental delay over 1 year. Activities following receipt of non-diagnostic CMA were compared to WGS diagnostic and non-diagnostic results. Activities were costed in 2016 Canadian dollars (CDN). Ongoing care accounted for 88.6% of post-test activities. The mean number of lab tests was greater following CMA than WGS (0.55 vs. 0.09; p = 0.007). The mean number of specialist visits was greater following WGS than CMA (0.41 vs. 0; p = 0.016). WGS results (diagnostic vs. non-diagnostic) modified the effect of test type on mean number of activities (p < 0.001). The cost of activities prompted by diagnostic WGS exceeded $557CDN for 10% of cases. In complex pediatric care, CMA prompted additional diagnostic investigations while WGS prompted tailored care guided by genotypic variants. Costs for prompted activities were low for the majority and constitute a small proportion of total test costs. Optimal use of WGS depends on robust evaluation of downstream care and cost consequences. More... »

PAGES

1303-1312

References to SciGraph publications

  • 2013-01-10. Implementing genomic medicine in the clinic: the future is here in GENETICS IN MEDICINE
  • 2017-05-04. A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder in GENETICS IN MEDICINE
  • 2014-03-20. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine in TRIALS
  • 2014-06-05. The usefulness of whole-exome sequencing in routine clinical practice in GENETICS IN MEDICINE
  • 2014-06-04. Genome sequencing identifies major causes of severe intellectual disability in NATURE
  • 2014-12-10. Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01-13. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine in NPJ GENOMIC MEDICINE
  • 2010-12-17. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease in GENETICS IN MEDICINE
  • 2007-10. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? in GENETICS IN MEDICINE
  • 2015-03-12. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics in GENETICS IN MEDICINE
  • 2011-06-15. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants in GENETICS IN MEDICINE
  • 2017-05-26. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study in NPJ GENOMIC MEDICINE
  • 2014-03-13. The impact of chromosomal microarray on clinical management: a retrospective analysis in GENETICS IN MEDICINE
  • 2011-09. Chromosomal microarray testing influences medical management in GENETICS IN MEDICINE
  • 2008-03. How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay in GENETICS IN MEDICINE
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    http://scigraph.springernature.com/pub.10.1038/s41431-017-0020-3

    DOI

    http://dx.doi.org/10.1038/s41431-017-0020-3

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1092791131

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29158552


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    333 schema:name Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada
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    335 Department of Molecular Genetics, University of Toronto, Toronto, Canada
    336 Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
    337 Department of Pediatrics, University of Toronto, Toronto, Canada
    338 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
    339 Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Canada
    340 McLaughlin Centre, University of Toronto, Toronto, Canada
    341 Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    342 The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
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    344 grid-institutes:grid.42327.30 schema:alternateName Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
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    346 Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada
    347 Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
    348 Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Canada
    349 Division of Pediatric Medicine, The Hospital for Sick Children, Toronto, Canada
    350 Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    351 The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
    352 schema:name Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada
    353 Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada
    354 Department of Computer Science, University of Toronto, Toronto, Canada
    355 Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada
    356 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada
    357 Department of Molecular Genetics, University of Toronto, Toronto, Canada
    358 Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
    359 Department of Pediatrics, University of Toronto, Toronto, Canada
    360 Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Canada
    361 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
    362 Division of Pediatric Medicine, The Hospital for Sick Children, Toronto, Canada
    363 Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    364 The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
    365 rdf:type schema:Organization
    366 grid-institutes:grid.46078.3d schema:alternateName School of Public Health and Health Systems, University of Waterloo, Waterloo, Canada
    367 schema:name School of Public Health and Health Systems, University of Waterloo, Waterloo, Canada
    368 rdf:type schema:Organization
    369 grid-institutes:grid.492573.e schema:alternateName Prenatal Diagnosis and Medical Genetics Program, Sinai Health System, Toronto, Canada
    370 schema:name Prenatal Diagnosis and Medical Genetics Program, Sinai Health System, Toronto, Canada
    371 rdf:type schema:Organization
     




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