View Full Version : Genetic test for heart disease risk rolled out in UK

Jean M
05-28-2014, 06:27 PM

A test for a preventable form of heart disease is being rolled out in the UK. The DNA blood test aims to spot the one in 500 people in the UK who have familial hypercholesterolaemia (FH), an inherited condition that greatly increases a person's heart attack risk. Left undiagnosed, up to half of people with FH will develop heart disease before they are 60. Early treatment can bring risk down to a normal level...

The British Heart Foundation is funding 1m to pay for nurses so that testing can be extended to eight NHS trusts across England and Scotland, after a successful pilot scheme in Wales.

They are:

Royal Brompton and Harefield NHS Trust
Royal Free London NHS Foundation Trust
South Yorkshire Cardiothoracic Centre
Greater Manchester and Cheshire Cardiac and Stroke Network
University Hospitals Bristol NHS Foundation Trust
City Hospitals Sunderland NHS Foundation Trust
NHS Grampian/North of Scotland Cardiac Network
University Hospital Southampton NHS Foundation Trust

Some parts of the UK, such as the East of England, will not have access to nearby testing services, however.

05-29-2014, 10:04 PM
Familial hypercholesterolaemia is, in basic terms, caused by a mutation on the "bad fat" (LDL) receptors in the body, meaning they accumulate in the blood stream. This bumps up the chance of atheroma formation, which leads to a bigger chance of cardiovascular accidents (heart attacks/MI's, strokes etc.).

It is a massive concern in the UK for two reasons;
1) Its' frequency is pretty high in the country. The 1 in 500 prevalence is a national average. I've been told by doctors who've worked in the Southwest it's more common there than that figure indicates. Additionally, they attributed it to the Celtic-speaking populations of the Isles.
2) The condition's pathophysiology renders the most common group of cholesterol lowering drugs (statins) pretty much useless in cases where patients have two copies of the mutation (homozygous familial hypercholesterolaemia), as they work on LDL receptors. If they're "broke" in the first place, the statins can't work their magic on them.

Most people with familial hypercholesterolaemia are heterozygous, meaning early intervention with conservative and pharmacological management greatly minimises their chances of having cardiovascular accidents.

Initiatives like this are fantastic. I am due to study clinical genetics on top of my core medic training next year and I am very satisfied to see the NHS pro-actively combine epidemiological and pharmacological data with a plan that will benefit a massive proportion of the country's population. I'm not of native Isles extraction and have naturally low LDL, so my enthusiasm is purely selfless. :P