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Wednesday, August 17, 2022

Genetic Testing Guide to Hereditary Heart Disease

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); Asia Pacific Heart Rhythm Society (APHRS); and the Latin American Heart Rhythm Society (LAHRS).

an international consensus statement on testing Genetics for heart disease focuses on inherited conditions and cautions that genetic counseling is “essential” and should begin before testing.

“This is now the reference document that all doctors should use to decide what to do. testing genetics is indicated for hereditary heart disease patients and their families,” Dr. Arthur Wilde of Amsterdam University Medical Center and Dr. Elizabeth Kaufman of Case Western Reserve University, Metro Health Medical Center in Cleveland, told Reuters Health by email.

“We think the key recommendation is that, for different disease entities, testing Genetic testing should be limited to genes with strong evidence for causation, i.e. genes with definite or strong evidence (and in special circumstances, moderate evidence),” he said. “Furthermore, it is strongly recommended that testing Testing (not done) without proper genetic counseling.

The statement is published in Heart Rhythm, Journal of Arrhythmia and Journal of Interventional Cardiac Electrophysiology. Provides genetic testing recommendations for four groups of heart conditions caused by genetic defects: inherited arrhythmia syndromes, cardiomyopathy, sudden cardiac death or unexplained cardiac arrest, and congenital heart disease.

Once a genetic cause has been identified in the patient, testing of family members, including children, can be carried out, according to the statement, which outlines the conditions that justify it. testing family genetics. In long QT syndrome, for example, family members should be tested.

like dos. According to Wilde and Kaufman, the document states that genetic counseling is necessary and should be started in advance. testing Clinical and genetic. A diagnosis can be life-changing and, as the statement says, “can lead to significant anxiety or aggressive treatment.”

The chapter on Congenital Heart Disease also provides detailed advice. testing in pregnant women and their babies, which Dr. Wilde described in a news release as a “rapidly growing area.”

Other areas addressed in the statement include different genetic testing methods, choice of tests, interpretation of variants, and a look to the future,

Dr. Kiran Musunuru of the University of Pennsylvania commented on the new consensus statement in an email to Reuters Health. Dr. Musunuru is the scientific director of the Penn Center for Inherited Cardiovascular Disease and director of the Genetic and Epigenetic Origins of Disease Program at the Cardiovascular Institute at the Perelman School of Medicine. He chaired the committee responsible for the American Heart Association Scientific Statement, “Genetic Testing for Hereditary Heart Diseases.”

The 2020 AHA Scientific Statement is a brief, high-level overview of the issues related to testing accessible to general practitioners who do not have much experience in genetics,” said Dr. Musunuru, “while the new statement goes into finer details about a range of individual disease states.

“Despite differences in territory,” he said, “the two documents are extremely consistent in their messages about the fair use of testing Counseling for people with medically 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 polygenic risk score, a collection of genes, 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 one and, along with the AHA’s scientific statement, is an invaluable resource for all physicians caring for people with inherited heart disease,” Dr Musunuru concluded.

Source consulted here.

World Nation News Desk
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