Researchers believe they have made a breakthrough in the diagnosis of inherited heart conditions, after developing a rapid, simple blood test that accurately can detect all known genes associated with such disorders.
In the Journal of Cardiovascular Translational Research, researchers from the UK and Singapore reveal how the test – called the TruSight Cardio Sequencing Kit – can identify 174 genes related to 17 inherited heart conditions.
Inherited heart conditions are caused by gene mutations that have been passed down from relatives. If a mother possesses one of these faulty genes, there is a 50% chance that they will pass the mutation on to their child.
While it is possible to have one of these gene mutations and never develop the associated heart condition, the gene significantly increases risk for the disorder.
Genetic testing is key to identifying such mutations, enabling early diagnosis of inherited heart conditions and allowing patients to take steps to lower their risk of sudden death from such disorders.
But according to lead researcher Dr. James Ware, of the National Heart and Lung Institute at the MRC Clinical Sciences Centre at Imperial College London, UK, current genetic tests are only capable of identifying small numbers of genes, which means they often overlook gene mutations that could be key for diagnosing an inherited heart condition.
Could the TruSight Cardio Sequencing Kit address this problem?
The new test used next-generation sequencing to simultaneously identify 174 genes known to increase the risk of 17 inherited heart conditions. It works by analyzing the DNA in patients’ blood samples.
Dr. Ware and colleagues assessed the effectiveness of the test in the new study by using it to analyze the blood samples of 348 participants from the National Heart Centre Singapore.
The team found that the test was able to quickly identify all gene mutations in the blood samples that were associated with the 17 inherited heart conditions with up to 100% accuracy.
The researchers say their study shows the new test is faster and more reliable than current genetic tests and will allow quicker, more reliable and more cost-effective diagnosis of inherited heart disorders.
Commenting on the findings, Prof. Peter Weissberg, medical director of the UK’s British Heart Foundation – which helped fund the study – says:
“As research advances and technology develops, we are identifying more and more genetic mutations that cause these conditions. In this rapidly evolving field of research the aim is to achieve ever greater diagnostic accuracy at ever-reducing cost.
This research represents an important step along this path. It means that a single test may be able to identify the causative gene mutation in someone with an inherited heart condition thereby allowing their relatives to be easily tested for the same gene.”
The new test has already been implemented at the Royal Brompton & Harefield National Health Service (NHS) Foundation Trust in the UK, where the researchers say it is successfully assessing 40 patients per month for an inherited heart condition.
In the US alone, around 100,000 people die from sudden cardiac arrest each year as a result of inherited heart conditions.
The researchers hope that their new test will soon be in clinical use across the globe, aiding the early diagnosis and treatment of inherited heart conditions for some patients and providing peace of mind for others.
“Without a genetic test, we often have to keep the whole family under regular surveillance for many years, because some of these conditions may not develop until later in life. This is hugely costly for both the families and the health system,” notes Dr. Ware.
“By contrast, when a genetic test reveals the precise genetic abnormality causing the condition in one member of the family, it becomes simple to test other family members,” he continues.
“Those who do not carry the faulty gene copy can be reassured and spared countless hospital visits. This new comprehensive test is increasing the number of families who benefit from genetic testing.”
Last September, Medical News Today reported on the development of a genetic test that can identify which breast cancer patients can avoid chemotherapy.