AHSN Extends the FH Project

Diagnostic testing in FH has now been firmly established in the north east and north Cumbria, supported by the AHSN. With successful delivery and widespread adoption into clinical practice across the region, the project has been granted an extension to run until the end of September 2015.

Familial Hypercholesterolaemia diagnostic and cascade testing

Familial Hypercholesterolaemia (FH) is a genetic disorder characterised by high LDL-cholesterol levels causing premature cardiovascular disease. Although one of the commonest inherited conditions, affecting around 1 in 500 people, it is asymptomatic and therefore under-diagnosed with 85% of those affected remaining unidentified (Marks et al, 2004).

The key to improving outcomes is early identification and initiation of treatment, effectively eliminating the excess cardiovascular risk (Betteridge et al, 1999; Neil et al, 2008; Vermissen et al, 2008).

AHSN funding has been secured in order to develop an integrated, comprehensive regional service for FH to include genetic diagnosis, cascade testing of family members and specialist nursing support (funded by the British Heart Foundation).

The innovative approach taken by this consortium is the development of an adaptive regional strategy for FH diagnosis. The first step will use a custom genotyping panel designed to include the mutations most commonly found in the Northern region. If no mutation is found patients will undergo full sequencing of the relevant genes using next generation sequencing technologies.

An evaluation of the impact of this two-stage “chip and sequence” test on clinical service and the potential value for money will be made with support from the Newcastle Diagnostic Evidence Cooperative.

NewGene Ltd is a partnership between Newcastle Upon Tyne Hospitals NHS Foundation Trust and Newcastle University



an adaptive regional strategy for genetic testing in FH


Northern Genetics Service

Newcastle Diagnostic Evidence Cooperative

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