Greater Manchester, Manchester, Salford
Cascade Testing Service
Health Innovation Manchester is supporting the development and delivery of a new service to identify patients with a genetic condition which puts them at risk of heart disease if left untreated.
Familial hypercholesterolaemia (FH) is a genetic condition which can lead to extremely high cholesterol levels. It is passed down through families by one or more faulty genes. It is caused by a genetic mutation which means the liver is unable to remove excess ‘bad’ cholesterol, known as low-density lipoprotein (LDL). This means the LDL level in the blood remains high. People with FH are at a greater risk of heart and circulatory disease at an early age if it is left untreated. There is no cure for FH, however treatment, such as statins and other medication, can reduce the risk of heart disease. Around 1 in 250 of the UK population has the condition, although many people are unaware that they have it.
FH is diagnosed through genetic testing. Early detection and preventative treatment are key to effectively treating FH. The NHS Long Term Plan 2019 states that FH affects at least 150,000 people in England and expanding access to genetic testing for FH will enable the NHS to diagnose and treat those at genetic risk of sudden cardiac death. Currently only 7% of those with FH have been identified, but the NHS aims to improve that to at least 25% in the next five years through the NHS genomics programme.
Health Innovation Manchester, on behalf of Greater Manchester Directors of Commissioning and Greater Manchester Lipid Leads, has supported the development and delivery of a Proof of Concept for establishing a new FH pathway and FH Cascade Screening service. The new pathway aims to improve access to testing for FH and cascade testing to close relatives who may also have FH. The Proof of Concept was tested at two NHS Trusts in Greater Manchester and with one GP practice in Primary Care with a small group of patients.
It is hoped that the Proof of Concept will inform a wider coordinated cascade system for FH testing across Greater Manchester, designed to ensure that the local population has fair and equitable access to information, diagnosis and treatment if appropriate.
For more information about FH, including information for the public and health professionals, visit the HEART UK website. HEART UK is a cholesterol charity providing expert support, education and influencing services to healthcare professionals and people and families with concerns about cholesterol. https://www.heartuk.org.uk/