Programme to check for 'faulty gene' that could cause early heart disease

Thousands of toddlers will be screened for an inherited gene that can cause early heart disease as part of a new national pilot programme.

Tuesday, 10th August 2021, 7:00 am
Professor Julia Newton, Medical Director at the Academic Health Science Network for the North East and North Cumbria (AHSN NENC).

Over the next two years, 30,000 children across England will be assessed using a heel prick blood test to identify if they have a ‘faulty gene’ which causes familial hypercholesterolaemia (FH).

FH is an inherited condition passed down through families which can lead to extremely high cholesterol levels and affects 1 in 250 people in the UK.

Without treatment, FH can lead to heart disease at a young age.

The Child-Parent Screening pilot programme, funded by NHS England and Improvement and delivered by the AHSN Network, will involve a number of GP practices across seven areas in England, including the North East and North Cumbria, over the next two years.

Professor Julia Newton, Medical Director at the Academic Health Science Network for the North East and North Cumbria (AHSN NENC), said: “FH is a potentially life-threatening condition but is easily managed if identified early and treated.

“The new clinical service that will be piloted across seven regions within the AHSN Network will screen two generations at once.

"If a child has the gene, one in two of their first-degree relatives will have it as well, all you need to do is find one person and then you can track it through the family.

“We know that people who have the gene are significantly more likely to have a cardiovascular event before the age of 40 but if we start families on treatment early, the risk reduces back to as if they don’t have the gene.”