BioCentury
ARTICLE | Clinical News

Study questions NICE screening recommendations for FH

February 22, 2013 2:05 AM UTC

Researchers at University College London published data in The Lancet on Thursday from a case-control study questioning the effectiveness of genetic testing for familial hypercholesterolemia ( FH) recommended by the U.K.'s NICE. In a "substantial" proportion of FH patients without a known mutation, the researchers found elevated LDL-C levels may have a polygenic rather than a monogenic cause, which would "compromise the efficiency" of the cascade testing recommended by NICE.

The 2008 NICE guidelines for identification and management of FH recommend a cascade testing strategy to identify FH patients, under which first-degree relatives of clinical FH patients are also tested for FH and if affected, their first-degree relatives are also tested and so on. The testing strategy is based on the assumption that FH has a monogenic cause, and therefore the probability that a first-degree relative will also be affected is more than 50%. ...