An algorithm developed in Black Country Pathology Services (BCPS) laboratories that aims to detect people with a genetic condition causing high cholesterol has been showcased at a conference in Chicago.

Lauren Hughes, Principal Clinical Scientist, Clinical Biochemistry, went out to the American Association for Clinical Chemistry’s annual conference this summer. She highlighted “A Novel Laboratory-Based IT-Driven Clinical Pathway to Improve Detection of Familial Hypercholesterolemia: the Intelligent Lipid (iLipid) Concept” which has been developed with Dr Clare Ford and Professor Rousseau Gama.

Familial Hypercholesterolemia (FH) can be caused by a gene inherited from a parent and can result in high cholesterol levels, which can lead to the early development of heart problems.

The condition is treatable but many patients go undiagnosed, and Lauren explained that the development of the Laboratory Information System-based (LIMS) algorithm aimed to improve detection and streamline the patient pathway.

She said: “Most people with FH are unaware of their condition, and many won’t have any symptoms – it may not become evident until much further down the line when heart problems occur.

“Using this IT-based approach means that there can be earlier intervention and treatment.”

When a GP requests a test, they will be asked to input information on family history, clinical history, physical examination, statin treatment, and a mobile phone number to confirm patient consent.

An algorithm was built into the LIMS that does the following:

• Rules out secondary causes of hyperlipidaemia in patients with results suggestive of FH
• Calculates an FH risk score (Welsh score)
• Automatically refers patients at high risk of FH for genetic testing

Lauren, who joined BCPS in 2016 via the Scientist Training Programme, added: “To be able to attend and present a poster on this work that has taken place in our labs here in the Black Country felt really good; it was a proud moment. Our work was well-received, with a lot of interest, and we are now going to roll this out across primary care.”

BCPS is a joint service run by four Trusts – Walsall Healthcare NHS Trust, The Royal Wolverhampton NHS Trust, Sandwell and West Birmingham NHS Trust and The Dudley Group NHS Foundation Trust and is based at New Cross Hospital, Wolverhampton.