This NIHR HTA-funded project aimed to determine i) the diagnostic accuracy, ii) the effect on patient outcomes and iii) the cost-effectiveness of Elucigene FH20 and LIPOchip as standalone tests or in combination with other tests for the diagnosis of familial hypercholesterolaemia (FH) in adults and children with a clinical diagnosis of definite or possible FH. 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. Based on the results of this diagnostic assessment, NICE released diagnostics guidance in December 2011 (DG2) not recommending the use of Elucigene FH20 and LIPOchip for the diagnosis of FH and the cascade testing of relatives. The guidance was subsequently withdrawn as both diagnostic tests were no longer commercially available.
For further information see:
Sharma, P, Boyers, D, Boachie, C, Stewart, F, Miedzybrodzka, Z, Simpson, W, McNamee, P, Mowatt, G Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation. Health Technol Assess 2012;16(17)