Researchers are hailing what they are calling a “breakthrough” in the diagnosis of inherited heart conditions, after developing a simple blood test that quickly and accurately detects all known genes associated with cardiovascular disorders.
The so-called TruSight Cardio Sequencing Kit, devised by researchers from the U.K. and Singapore, can identify 174 genes tied to 17 inherited heart conditions,
Medical News Today reports. In the U.S., about 100,000 people die from sudden cardiac arrest each year as a result of inherited heart conditions.
The advance, reported in the Journal of Cardiovascular Translational Research, will allow doctors to rapidly diagnose such inherited conditions as structural heart disease, aortic valve disease, long and short QT syndrome, Noonan syndrome, familial atrial fibrillation, and most cardiomyopathies, they said.
Peter Weissberg — medical director of the U.K.'s British Heart Foundation, which helped fund the group’s research — called the test a milestone in heart care.
"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," he said.
"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."
Inherited heart conditions caused by gene mutations are common causes of cardiovascular disease. If a mother possesses one of these faulty genes, there is a 50 percent chance that they will pass the mutation on to their child.
Genetic testing has enabled early diagnosis of inherited heart conditions and allowed patients to take steps to lower their risk of sudden death from such disorders. But existing genetic tests can only flag a small numbers of genes, which means they often overlook gene mutations that could be key for diagnosing an inherited heart condition.
But the new TruSight test — developed by Dr. James Ware, of the National Heart and Lung Institute at the MRC Clinical Sciences Centre at Imperial College London, and colleagues — analyzes the DNA in patients' blood samples to identify, with 100 percent accuracy, all genes tied to inherited heart conditions.
Dr. Ware and colleagues used the test to analyze the blood samples of 348 participants from the National Heart Centre Singapore found it to be faster and more reliable than current genetic tests.
"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," noted 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.
"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."
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