ArticleEuropean journal of human genetics : EJHG2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Article
- Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data.Applied health economics and health policy · 2025Article
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.JAMA network open · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Exome/Genome Sequencing in Undiagnosed Syndromes.Annual review of medicine · 2023Review
- Article
- Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges.Journal of community genetics · 2022Article
- Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.International journal of neonatal screening · 2022Article
- Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.American journal of human genetics · 2021Article
- Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.Frontiers in pediatrics · 2021Article
- Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease.Clinical and translational gastroenterology · 2020Article
- Estimating the costs of genomic sequencing in cancer control.BMC health services research · 2020Article
- Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.Ontario health technology assessment series · 2020Article
- A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.NPJ genomic medicine · 2020Article
- Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Juvenile idiopathic arthritis associated with a mutation in GATA3.Arthritis research & therapy · 2019Article
- Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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