Original Title: Application 1125

Authors' results and conclusions: Part A - Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) Safety - No studies reported safety outcomes associated with the use of molecular analysis in the diagnosis of PV, ET or PMF. Despite a lack of evidence, it is unlikely that the taking of blood samples for molecular analysis would result in any significant safety issues to patients. Overall, molecular analysis in the diagnosis of PV, ET and PMT is likely to be a safe procedure and would be expected to be at least as safe as the relevant comparator strategies for these indications. Effectiveness - The comparative effectiveness of molecular analysis in the diagnosis of PV, ET and PMF was poorly informed by the available evidence. No direct evidence was identified that compared the diagnosis of PV, ET or PMF using molecular analysis with the comparator test strategy with regard to patient outcomes. The subsequent attempt to link evidence of diagnostic accuracy, change in management and treatment effectiveness to a change in patient health outcomes was complicated by an imperfect reference standard, which has the potential to misdiagnose patients compared with the index test strategy. Part B - Systemic mast cell disease (SMCD), hypereosinophilic syndrome (HES) and chronic eosinophilic leukaemia (CEL) Safety - No evidence regarding the safety of molecular analysis in the investigation of SMCD, HES or CEL was identified. It is unlikely that the taking of blood samples for molecular analysis would result in any significant safety issues to patients. Effectiveness - No direct evidence for SMCD was identified in patients diagnosed with the addition of molecular analysis to the diagnostic strategy, relative to a strategy without molecular analysis; therefore the comparative effectiveness of molecular analysis in the diagnostic strategy cannot be determined. Direct evidence for a change in patient outcomes after diagnosis of CEL and HES using molecular analysis was limited to one study of patients presenting with eosinophilia. No evidence was available that reported on the diagnosis of HES or CEL with molecular testing, compared with diagnosis without molecular analysis. No evidence of change in management, particularly with regard to earlier diagnosis, was identified in patients suspected of primary eosinophilia as a consequence of diagnosis with molecular analysis.

Project Status: Completed

URL for project: http://www.msac.gov.au/internet/msac/publishing.nsf/Content/1125-public

Year Published: 2009

URL for published report: http://www.msac.gov.au/internet/msac/publishing.nsf/Content/049E5816272060BCCA25801000123B46/$File/1125_MSAC_Assessment_Report.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Australia

Organisation Name: Adelaide Health Technology Assessment

Contact Address: School of Public Health, Mail Drop 545, University of Adelaide, Adelaide SA 5005, AUSTRALIA, Tel: +61 8 8313 4617

Contact Name: ahta@adelaide.edu.au

Contact Email: ahta@adelaide.edu.au

Copyright: Adelaide Health Technology Assessment (AHTA)