Draft guidance from NICE’s Diagnostics Assessment Programme, published for consultation, does not support the use of two genetic tests to diagnose familial hypercholesterolaemia (FH) or inherited high cholesterol.
The provisional recommendations do not support the use of Elucigene (from Gen-Probe) or LIPOchip (from Progenika) by the NHS in England to confirm a diagnosis or screen relatives of someone diagnosed with FH.
FH is caused by an inherited genetic mutation that reduces the rate at which cholesterol is cleared from the blood. The condition affects an estimated 100,000 people in the UK, and can result in coronary heart disease if not diagnosed and treated.
Currently, FH is diagnosed through a combination of clinical signs and DNA testing. The Elucigene and LIPOchip tests can only identify a subset of the genetic mutations that cause FH. Therefore, NICE’s Diagnostics Advisory Committee concluded that using CGA (comprehensive genetic analysis) for diagnosis of FH and targeted DNA testing for screening was more clinically and cost-effective than either test.
Professor Adrian Newland, Chair of the Diagnostics Advisory Committee, said the Committee considered that “even though Elucigene and LIPOchip are less costly tests than CGA, because they are less sensitive the cost savings would be more than offset by the lower health outcomes associated by false negative tests and the inability to undertake cascade testing using a targeted DNA test.”
However, he commented, “It remains the case that only a fraction of people in England are identified as having FH, often with tragic consequences for the majority who are not.” The provisional NICE clinical guideline was “a pragmatic blueprint” for preventing many unnecessary deaths through the use of CGA and targeted DNA testing.
The consultation closes on 23 August, and final guidance is expected in December.