| Literature DB >> 29158552 |
Robin Z Hayeems1,2, Jasmin Bhawra3, Kate Tsiplova4, M Stephen Meyn5,6,7, Nasim Monfared5,8, Sarah Bowdin5,7, D James Stavropoulos9,10, Christian R Marshall9,10,11, Raveen Basran9, Cheryl Shuman5,6,8, Shinya Ito12, Iris Cohn12, Courtney Hum13, Marta Girdea14, Michael Brudno14,15,16, Ronald D Cohn6,7,16,17, Stephen W Scherer6,11,16,18, Wendy J Ungar4,19.
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.Entities:
Mesh：
Year: 2017 PMID： 29158552 PMCID： PMC5865210 DOI： 10.1038/s41431-017-0020-3
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246