European Society of Cardiology publishes new genetic testing guidelines for heart conditions – Cardiovascular Business

In general, the authors write, cardiovascular disorders fall into broad categories: Mendelian cardiovascular disorders, caused by the inheritance of just one or two genetic variants, and disorders with complex inheritance, with multiple genetic variants that are potentially contributing factors.

In both categories, environmental and other non-genetic factors also contribute to the ultimate phenotypic expression, according to the document. However, Mendelian disorders often cluster in families, which may indicate an increased tilt toward family member screening in certain cases.

In Mendelian cardiovascular disorders with potentially devastating initial manifestations, such as SCD or aortic dissection, appropriate and prompt identification of individuals at risk is imperative, the authors wrote. Such clinical genetic testing for these single-gene disorders has been shown to be cost-effective and can be considered a success story in the application of genetics into clinical practice.

Before genetic testing is performed, the authors recommend genetic counseling for family members to inform them about the potentially life-changing consequences of a positive diagnosis.

For instance, if an individual has no symptoms but his or her sibling has a serious inherited cardiac disease, the first question should be do you want to know whether you have this condition, yes or no? Wilde said in the ESC statement. A diagnosis may trigger difficulties with insurance, getting a mortgage, and so on. He or she needs to be informed before making any decisions.

Of course, any decision should also take into consideration the potential benefits for patients and their families, both now and in the future. Noting the continued progress being made in gene therapy, the authors foresee a future where clinical applications may evolve even further with further research.

Looking to the future, with the advances being made in the field of gene therapy, the identification of the patients fundamental disease-causative substrate may enable not only genotype-guided therapies but also gene-specific, even pathogenic variant-specific therapies.

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European Society of Cardiology publishes new genetic testing guidelines for heart conditions - Cardiovascular Business