Newcastle University develops genetic blood test to diagnose liver disease

Newcastle medics and scientists have revealed a novel new genetic blood test that can reveal signs of liver scarring, known as fibrosis, before symptoms are presented.

Publishing in the scientific journal GUT, the team describe how variations in DNA of the genes controlling scarring can reveal the severity of fibrosis for people with Non-alcoholic Fatty Liver Disease (NAFLD).

These genetic changes can be determined in a blood analysis, by detecting chemical changes of “cell-free” DNA that are released into the blood when liver cells are damaged.

Dr Jelena Mann of Newcastle University’s Institute for Cellular Medicine, and senior author of the published paper, said: “This is the first time that a DNA methylation ‘signature’ from the blood has been shown to match the severity of a liver disease.

“It opens up the possibility of an improved blood test for liver fibrosis in the future.”

NAFLD affects one in three people in the UK, and is usually caused by being overweight or having diabetes. If left unnoticed, NAFLD can progress to liver failure, with patients often requiring a liver transplant.

Dr Quentin Anstee, Senior clinical lecturer and Consultant Hepatologist within Newcastle Hospitals, added: “This scientific breakthrough has great promise because the majority of patients show no symptoms.

“Routine blood tests can’t detect scarring of the liver and even more advanced non-invasive tests can really only detect scarring at a late stage when it is nearing cirrhosis.

“We currently have to rely on liver biopsy to measure fibrosis at its early stages—by examining a piece of the liver under the microscope.

“We know that the presence of even mild fibrosis of the liver predicts a worse long-term outcome for patients with NAFLD and so it’s important to be able to detect liver scarring at an early stage.”

The research was carried out by the Newcastle team in response to the problems faced by an ageing population.  The Tyneside medics and scientists are hailing their discovery as a breakthrough, because early detection of NAFLD will then hopefully lead to a reduction in severe liver diseases in the UK.

The research was supported by Newcastle Academic Health Partners: A partnership between Newcastle University, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Northumberland NHS Foundation Trust, and Tyne and Wear NHS Foundation Trust.