Dr Priori, who is director of Molecular Cardiology at the Fondazione Salvatore Maugeri and University in Pavia, and Director of Cardiovascular Genetics at New York University, describes the penetration of use of genetic testing in Europe as "patchy", with some countries still without even a limited framework for their application.
"The document is intended to provide guidance to cardiologists in the use of genetic testing among patients and family members," she explains. Results may be useful for both the diagnosis and treatment of affected individuals. The appropriate use of these tests, she adds, is critical because they are expensive, and should, therefore, be used in patients with a clinical diagnosis (or high suspicion) of these diseases.
The recommendations focus on testing for 13 inherited conditions, including hypertrophic cardiomyopathy, long QT syndrome, Brugada syndrome, and dilated cardiomyopathy. In addition, the statement includes guidance on the use of genetic testing for out-of-hospital cardiac arrest survivors and post-mortem testing in cases of sudden death, the most dramatic consequence of these conditions.
Dr Priori describes the prevalence of these conditions among the general population as ranging from one in 500 to one in 10,000 - with an average prevalence of around one in 2000. Based on current knowledge, it is still not possible to find genetic abnormalities in all patients affected by these conditions; however, in some - such as hypertrophic cardiomyopathy or long QT syndrome - genetic testing may identify a causative mutation in as many as 70% of cases. In other diseases, however, the yield of testing is much lower, and improvements will depend on the discovery of more genes.
"So genetic testing cannot be viewed as a one-size fits all solution, but its contribution to family screening and management in affected patients should be defined for each disease," says Dr Pr
|Contact: Jacqueline Partarrieu|
European Society of Cardiology