Authors' objectives: The objective of this technology review is to assess the effectiveness, safety and cost-effectiveness of WES to be used in diagnosing children with suspected genetic disease.

Authors' results and conclusions: A total of 21 studies were included in this review. There were fourteen studies retrieved on the effectiveness of WES as diagnostic option for children with suspected genetic disease, of which five studies were on infant. The fourteen studies were comprised of two SR, one scoping review, one RCT, nine cohort studies and one case series. Two studies retrieved were on safety (qualitative studies) and another five studies were on cost-effectiveness, as well as one HTA report on WES as diagnostic option for children with suspected genetic disease. The studies were originated from US, Australia, Taiwan, Hong Kong, France, Brazil, Germany and UK. The included SR reviewed evidences from multiple countries, mainly from US and Europe. Total participants enrolled in this review were 21,937. Study sample size varied from 29 to 500 patients. The 21 included studies investigated the use of WES or rapid WES in children with a variety of suspected genetic conditions, the most common being developmental abnormality or delay, or neurodevelopmental disorders, with six studies investigating WES or rapid WES exclusively in newborns, and two studies investigating impact of WES among caregivers. The WES conducted varies from proband to trio in the included studies. The longest follow up reported was up to 33 months.

Authors' methods: Studies were identified by searching electronic databases. The following databases were searched through the Ovid interface: MEDLINE(R) In-process and other Non-Indexed Citations and Ovid MEDLINE(R) 1946 to present. EBM Reviews-Cochrane Database of Systematic Reviews (2005 to April 2024), EBM Reviews-Cochrane Central Register of Controlled Trials (April 2024), EBM Reviews – Database of Abstracts of Review of Effects (1st Quarter 2024), EBM Reviews-Health Technology Assessment 1st Quarter 2024), EBM Reviews-NHS Economic Evaluation Database (1st Quarter 2024). Parallel searches were run in PubMed. Appendix 3 showed the detailed search strategies. No limits were applied to the search. The last search was run on 31 March 2024. Additional articles were identified from reviewing the references of retrieved articles. Among the tools used to assess the risk of bias and methodological quality of the articles retrieved is the Cochrane ROBIS risk of bias tool, ROB-2 tool and CASP checklist. All full text articles were then graded based on guidelines from the US/Canadian Preventive Services Task Force.

Project Status: Completed

URL for project: https://www.moh.gov.my/index.php/database_stores/store_view_page/30/415

Year Published: 2024

URL for published report: https://www.moh.gov.my/index.php/database_stores/store_view_page/30/415

Requestor: Clinical Geneticist

English language abstract: An English language summary is available

Publication Type: Mini HTA

Country: Malaysia

Organisation Name: Malaysian Health Technology Assessment

Contact Address: Malaysian Health Technology Assessment Section, Ministry of Health Malaysia, Federal Government Administrative Centre, Level 4, Block E1, Parcel E, 62590 Putrajaya Malaysia Tel: +603 8883 1229

Contact Name: htamalaysia@moh.gov.my

Contact Email: htamalaysia@moh.gov.my

Copyright: Malaysian Health Technology Assessment Section (MaHTAS)