Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.
Identifieur interne : 000419 ( Main/Curation ); précédent : 000418; suivant : 000420Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.
Auteurs : Allison L. Cirino [États-Unis] ; Stephanie Harris [États-Unis] ; Neal K. Lakdawala [États-Unis] ; Michelle Michels [Pays-Bas] ; Iacopo Olivotto [Italie] ; Sharlene M. Day ; Dominic J. Abrams [États-Unis] ; Philippe Charron [France] ; Colleen Caleshu [États-Unis] ; Christopher Semsarian [Australie] ; Jodie Ingles [Australie] ; Harry Rakowski [Canada] ; Daniel P. Judge [États-Unis] ; Carolyn Y. Ho [États-Unis]Source :
- JAMA cardiology [ 2380-6591 ] ; 2017.
Abstract
Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes.
DOI: 10.1001/jamacardio.2017.2352
PubMed: 28793145
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Sharlene M. Day<affiliation><nlm:affiliation>Cardiovascular Division, Department of Internal Medicine, University of Michigan, Ann Arbor.</nlm:affiliation>
<wicri:noCountry code="subField">Ann Arbor</wicri:noCountry>
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Le document en format XML
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<front><div type="abstract" xml:lang="en">Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes.</div>
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