Cost-effectiveness analysis of using the TBX6 -associated congenital scoliosis risk score (TACScore) in genetic diagnosi
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(2020) 15:250
RESEARCH
Open Access
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis Zefu Chen1,2,3†, Zihui Yan1,2,3†, Chenxi Yu1,2,3†, Jiaqi Liu1,2,4, Yanbin Zhang1,2,3, Sen Zhao1,2, Jiachen Lin1,2,3, Yuanqiang Zhang1,2,3, Lianlei Wang1,2,3, Mao Lin1,2,3, Yingzhao Huang1,2, Xiaoxin Li2,5, Yuchen Niu2,5, Shengru Wang1,2,6, Zhihong Wu2,5,6, DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group, Guixing Qiu1,2,5,6, Terry Jianguo Zhang1,2,6 and Nan Wu1,2,6*
Abstract Background: We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScore), a multivariate phenotype-based model to predict TACS according to the patient’s clinical manifestations. In this study, we aimed to evaluate whether using the TACScore as a screening method prior to performing whole-exome sequencing (WES) is more cost-effective than using WES as the first-line genetic test for CS. Methods: We retrospectively collected the molecular data of 416 CS patients in the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study. A decision tree was constructed to estimate the cost and the diagnostic time required for the two alternative strategies (TACScore versus WES). Bootstrapping simulations and sensitivity analyses were performed to examine the distributions and robustness of the estimates. The economic evaluation considered both the health care payer and the personal budget perspectives. (Continued on next page)
* Correspondence: [email protected] † Zefu Chen, Zihui Yan and Chenxi Yu contributed equally to this work. 1 Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China 2 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativ
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