This NIHR HTA-funded project sought to determine i) the diagnostic accuracy, ii) the effect on patient outcomes and iii) the cost-effectiveness of Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia (FH) in adults and children. The diagnostic accuracy of Elucigene FH20 and LIPOchip was compared with LDL-C concentration measurement against comprehensive genetic analysis (CGA) combined with clinical criteria. An economic model was constructed to assess the cost-effectiveness of alternative diagnostic strategies for the confirmation of clinically diagnosed FH in index cases and for the identification and subsequent testing of first-, second- and possibly third-degree biological relatives of the index case. Evidence was limited in quantity and of variable methodological quality. There was much uncertainty regarding the diagnostic accuracy of the included tests, with wide variation in sensitivity estimates across reported studies. Sensitivity ranged from 44% to 52% for Elucigene FH20 and was 78.5% for LIPOchip in detecting FH-causing mutations in patients with a clinical diagnosis of FH. CGA was found to be highly cost-effective relative to the tests under investigation. Recommendation includes further prospective multicentred studies evaluating the diagnostic accuracy of new and emerging tests for the diagnosis of FH.
For further information see:
Pawana Sharma; email@example.com
Sharma P, Boyers D, Boachie C, Stewart F, Miedzybrodzka Z, Simpson W, Kilonzo M, McNamee P & Mowatt G (2012). 'Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation'. Health Technology Assessment, vol 16, no. 17, pp. 1-266.