An international consensus statement on genetic testing for heart disease.
The consensus was developed by a drafting committee that included representatives from the European Heart Rhythm Association (EHRA); the Heart Rhythm Society (HRS); the Asia Pacific Heart Rhythm Society (APHRS); and the Latin American Heart Rhythm Society (LAHRS).
A declaration international consensus on las tests Genetic testing for heart disease focuses on hereditary conditions and warns that the genetic counseling is “essential” and must start before the Test.
“This is now the reference document that all doctors must use to decide whether to tests genetics are indicated for patients with hereditary heart disease and their families,” said Dr. Arthur Wilde of the University Medical Center Amsterdam and Dr. Elizabeth Kaufman of Metro Health Medical Center. The Universidad Case Western Reserve in Cleveland said to Archyde.com Health via email.
“We believe that the key recommendation is that, for the different entities of the illness, tests Genetic tests should be limited to genes with strong evidence for causality, that is, genes with definite or strong evidence (and in special circumstances, moderate evidence),” they said. “In addition, it is strongly recommended that tests tests (not performed) without proper genetic counseling”.
The statement is published in Heart Rhythm, Journal of Arrhythmia y Journal of Interventional Cardiac Electrophysiology. Provides recommendations on genetic testing for four groups of heart conditions caused by genetic defects: inherited arrhythmia syndromes, cardiomyopathies, sudden cardiac death or unexplained cardiac arrest, and congenital heart disease.
Once a genetic cause is identified in the patient, family members, including children, can be tested, according to the statement, which outlines the conditions that justify tests family genetics. In long QT syndrome, for example, family members should be tested.
Like the dress. Savage and Kaufman, the document states that genetic counseling is essential and should begin even before tests clinical and genetic. A diagnosis can be life-changing and, as the statement notes, “can lead to significant anxiety or aggressive treatment.”
The chapter on congenital heart disease also provides detailed advice on tests genetics in pregnant women and their children, that the dr. Savage characterized in a press release as “a rapidly evolving field”.
Other areas addressed in the statement include different genetic testing methods, choice of tests, interpretation of variants, and a look at future directions.
The Dr. Kiran Musunuru of the University of Pennsylvania commented on the new consensus statement in an email to Archyde.com Health. Dr. Musunuru is the scientific director of the Penn Center for Inherited Cardiovascular Diseases and director of the Genetic and Epigenetic Origins of Disease Program in the Cardiovascular Institute at the Perelman School of Medicine. He chaired the committee responsible for the American Heart Association Scientific Statement, “Genetic Testing for Inherited Cardiovascular Diseases.”
“The 2020 AHA Scientific Statement is a concise, high-level overview of issues related to tests genetics, accessible to general practitioners who don’t have a lot of experience in genetics,” said Dr. Musunuru, “while the new statement goes into granular detail regarding a range of individual disease states.
“Despite the difference in scope,” he added, “the two documents are extremely consistent in their messages about the appropriate use of tests counseling for people with clinically diagnosed or suspected hereditary heart disease and their relatives, as well as the essential role of genetic counseling in all cases.
“An important area of active research is the contribution of a collection of genes, a polygenic risk score, to common diseases such as coronary artery disease,” he said. “Both papers agree that it is premature to apply polygenic risk scores in clinical practice.”
“The new statement is a welcome addition and, along with the AHA’s scientific statement, is an invaluable resource for all physicians caring for people with inherited heart disease,” concluded Dr. Musunuru.
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