Page URL:

Heart disease gene test under fire

11 October 2010
Appeared in BioNews 579

Researchers in the US have shown a gene-based test designed to predict the risk of Coronary Artery Disease (CAD) is only marginally better than existing methods.

CAD occurs when fatty deposits called plaques build up in the coronary arteries supplying blood to the heart. These can eventually become blocked and prevent oxygen from reaching the heart muscle, weakening it and increasing the risk of heart attacks. This condition is linked to factors such as age and genetic makeup, as well as lifestyle factors, such as body weight, smoking and stress levels.

A physician will take these factors into account when predicting an individual's risk, but current risk prediction models are not without their problems.

Several tests are used to diagnose CAD, with coronary angiography seen as the current gold standard. However, this is an expensive and invasive test, which carries a degree of risk because the procedure involves putting a catheter into the arm/groin and examining blood vessels around the heart using dye. There is therefore a need for a non-invasive, cost-effective way of analysing the risk of developing CAD.

The developers of a new genetic test available in the US, which screens for 23 genes thought to be linked to CAD, claim that they are now able to do this.

Researchers in the US set out to assess whether this new genetic test was more effective at predicting CAD than the other methods currently in use. This involved collecting data from 39 centres around the US on 526 patients who had complained of chest pain. Patients' blood samples were analysed using the genetic test and given a risk score accordingly. They then underwent coronary angiography to determine whether the patient had the condition or not - defined as narrowing of one heart blood vessel by 50 percent or more.

Results from the genetic risk score were analysed for their effectiveness in predicting whether the individuals had CAD or not. The study showed that this test was able to predict CAD more often than patient characteristic tests, but this improvement was relatively small and many patients were incorrectly classified.

The data suggests this genetic test does not provide enough of an improvement to justify its current use, but future developments may improve its accuracy.

The study findings were published in Annals of Internal Medicine.

21 September 2015 - by Dr Lanay Griessner 
Decades of advice on the protective effects of omega-3 fatty acids are being challenged by a study of the genomes of the Inuit population in Greenland...
27 June 2011 - by Antony Starza-Allen 
A genetic mutation has been associated with a rare and potentially serious heart condition called peripartum cardiomyopathy (PPCM) that can affect woman before, during or shortly after childbirth. Researchers say the findings could lead to the development of diagnostic tests for PPCM....
10 January 2011 - by Professor Anneke Lucassen and Dr Emy Lucassen 
Advances in genetic and genomic research mean that the identification of a genetic condition or a genetic susceptibility to disease is increasingly becoming a routine part of health care. Many more highly predictive genetic tests are available today than there were just a few years ago and for some conditions (for example, certain types of cancer or heart disease), there are proven surveillance or prevention strategies which can reduce morbidity or mortality...
22 November 2010 - by Julianna Photopoulos 
Researchers have identified 22 regions of the human genome responsible for controlling the rhythm of heartbeats, according to an international study published in Nature Genetics. The findings may help explain the development of those with irregular heartbeat and who may have an increased risk of heart problems....
18 January 2010 - by Dr Aarathi Prasad 
A new study by scientists at the University of Cambridge, UK, has indicated that people in the later stages of heart disease carry specific changes in three key genes. However, these alterations to the genes are not permanent mutations, rather, they consist of a reversible change that may be influenced by the environment and diet, and may be responsible for integrating lifestyle and dietary signals to later heart failure....
7 December 2009 - by Antony Starza-Allen 
As our understanding of genetics and associated disorders has developed, many genetic tests performing functions - from predicting certain genetic predispositions and identifying rare monogenetic disorders, to ancestry and other 'novelty' tests - have been introduced to the healthcare market. Many geneticists are concerned about the regulation of these tests, which are performed by the NHS, the private sector, or distributed directly to consumers. Experts are calling for more transparent eval...
30 March 2009 - by Alison Cranage 
A study published in Nature Genetics last week has identified gene variants that affect a person's heart rate, and risk of sudden cardiac death. The team led by Christopher Newton-Cheh at Massachusetts General Hospital (US), found 14 variants in ten gene regions that are associated with differences...
23 July 2007 - by Ailsa Stevens 
A study published in the New England Journal of Medicine last week reported the discovery of six single letter gene changes - so-called genetic variants - linked to significantly increased risk of heart disease: the UK's biggest killer. The study - part of the multimillion pound Welcome Trust Case Control...
9 May 2007 - by Dr Jess Buxton 
US and Canadian researchers have identified a common genetic variation that can increase the risk of heart disease by up to 40 per cent. The study, published early online in the journal Science, suggests that two genes involved in controlling cell growth, aging and death could...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.