Authors' objectives:

The aim of this overview was: 1. to review the potential of tandem mass spectrometry (MS/MS) to detect medium chain acyl~CoA dehydrogenase deficiency (MCADD) in newborns, in the context of Canadian screening programs, taking into account clinical, financial, ethical, and psychosocial issues.

2. To help policy makers and program managers decide whether to include MCADD in existing screening programs.

3. To address the following questions:

i. What is the evidence of benefit, harm, and validity (sensitivity, specificity, and predictive values) in screening newborns for MCADD using MS/MS?

ii. What are the clinical outcomes of patients with MCADD whose conditions were detected at birth by screening compared with those who were diagnosed later in childhood?

iii. What is the cost-effectiveness of screening for MCADD using MS/MS?

iv. What is the budget impact of screening for MCADD using MS/MS?

v. What are the ethical and psychosocial issues associated with newborn screening for MCADD using MS/MS?

Authors' results and conclusions: Clinical Review: We found 957 citations, of which we identified 48 reports as potentially relevant. After retrieving the full text of these reports, 21 were selected for data extraction. Of these, 15 were reported as full-length articles,and six were reported as abstracts. The 27 excluded articles were eliminated, because they lacked specific data about MCADD; duplicated some included studies; focused on establishing test criteria; or had an inappropriate design. We assessed the quality of 14 of the 21 included studies using the QUADAS scale. Most were of limited quality. There was often no indication of the length of time between positive screening results and a confirmation of those results. Of the seven studies that were not assessed for quality, six were reported in abstract form, and one was a retrospective evaluation of the outcomes of clinically diagnosed MCADD patients. Economic Analysis: Out of 289 abstracts, we ordered 29 full-length articles that met the inclusion criteria and retrieved 27. Of those, two were acceptable. The two accepted studies were American, and used primary and secondary data to present results from a societal perspective. While their model structures differed, both studies arrived at the same overall conclusion: MS/MS-based screening for MCADD is cost-effective compared with no screening, if willingness to pay is US$50,000 per quality-adjusted life-year.

Authors' recommendations: Although the quality of the included studies was limited, the benefits of screening for MCADD using MS/MS-based technology outweigh the risks of no screening; it significantly reduced morbidity and mortality compared with clinical diagnosis. Screening using MS/MS-based technology costs more, but results in better health outcomes compared with no screening. Our economic review showed that MS/MS-based screening for MCADD is cost-effective, if willingness to pay is US$50,000 per QALY, while our primary economic analysis, which was based on Canadian data, showed the same but at a threshold of C$20,000 per QALY.

Authors' methods: Overview

Project Status: Completed

URL for project: https://www.ccohta.ca/

Year Published: 2006

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Canada

Organisation Name: Canadian Coordinating Office for Health Technology Assessment

Contact Address: 600-865 Carling Avenue, Ottawa, ON K1S 5S8 Canada. Tel: +1 613 226 2553, Fax: +1 613 226 5392;

Contact Name: requests@cadth.ca

Contact Email: requests@cadth.ca

Copyright: Canadian Coordinating Office for Health Technology Assessment (CCOHTA)