Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.
Identifieur interne : 000419 ( Main/Exploration ); 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
Affiliations:
- Australie, Canada, France, Italie, Pays-Bas, États-Unis
- Californie, Hollande-Méridionale, Maryland, Massachusetts, Nouvelle-Galles du Sud, Ontario, Île-de-France
- Paris, Rotterdam, Sydney, Toronto
- Université de Sydney, Université de Toronto
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Cirino</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Cardiovascular Division, Brigham and Women's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Harris, Stephanie" sort="Harris, Stephanie" uniqKey="Harris S" first="Stephanie" last="Harris">Stephanie Harris</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Cardiovascular Division, Brigham and Women's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Lakdawala, Neal K" sort="Lakdawala, Neal K" uniqKey="Lakdawala N" first="Neal K" last="Lakdawala">Neal K. 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Cirino</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Cardiovascular Division, Brigham and Women's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Harris, Stephanie" sort="Harris, Stephanie" uniqKey="Harris S" first="Stephanie" last="Harris">Stephanie Harris</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Cardiovascular Division, Brigham and Women's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Lakdawala, Neal K" sort="Lakdawala, Neal K" uniqKey="Lakdawala N" first="Neal K" last="Lakdawala">Neal K. Lakdawala</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Cardiovascular Division, Brigham and Women's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Michels, Michelle" sort="Michels, Michelle" uniqKey="Michels M" first="Michelle" last="Michels">Michelle Michels</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cardiology, The Thoraxcenter, Erasmus University Medical Center, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Cardiology, The Thoraxcenter, Erasmus University Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Olivotto, Iacopo" sort="Olivotto, Iacopo" uniqKey="Olivotto I" first="Iacopo" last="Olivotto">Iacopo Olivotto</name><affiliation wicri:level="1"><nlm:affiliation>Referral Centre for Myocardial Diseases, Careggi University Hospital, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Referral Centre for Myocardial Diseases, Careggi University Hospital, Florence</wicri:regionArea><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Day, Sharlene M" sort="Day, Sharlene M" uniqKey="Day S" first="Sharlene M" last="Day">Sharlene M. Day</name><affiliation><nlm:affiliation>Cardiovascular Division, Department of Internal Medicine, University of Michigan, Ann Arbor.</nlm:affiliation><wicri:noCountry code="subField">Ann Arbor</wicri:noCountry></affiliation></author><author><name sortKey="Abrams, Dominic J" sort="Abrams, Dominic J" uniqKey="Abrams D" first="Dominic J" last="Abrams">Dominic J. Abrams</name><affiliation wicri:level="2"><nlm:affiliation>Inherited Cardiac Arrhythmia Program, Division of Cardiac Electrophysiology, Boston Children's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Inherited Cardiac Arrhythmia Program, Division of Cardiac Electrophysiology, Boston Children's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name><affiliation wicri:level="3"><nlm:affiliation>Referral Center for Cardiac Hereditary Diseases, Assistance Publique-Hôpitaux de Paris, Institute of Cardiometabolism and Nutrition, Hôpital de la Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Referral Center for Cardiac Hereditary Diseases, Assistance Publique-Hôpitaux de Paris, Institute of Cardiometabolism and Nutrition, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Caleshu, Colleen" sort="Caleshu, Colleen" uniqKey="Caleshu C" first="Colleen" last="Caleshu">Colleen Caleshu</name><affiliation wicri:level="2"><nlm:affiliation>Stanford Center for Inherited Cardiovascular Disease, Stanford, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Stanford Center for Inherited Cardiovascular Disease, Stanford</wicri:cityArea></affiliation></author><author><name sortKey="Semsarian, Christopher" sort="Semsarian, Christopher" uniqKey="Semsarian C" first="Christopher" last="Semsarian">Christopher Semsarian</name><affiliation wicri:level="4"><nlm:affiliation>Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, University of Sydney, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, University of Sydney, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Ingles, Jodie" sort="Ingles, Jodie" uniqKey="Ingles J" first="Jodie" last="Ingles">Jodie Ingles</name><affiliation wicri:level="4"><nlm:affiliation>Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, University of Sydney, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, University of Sydney, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Rakowski, Harry" sort="Rakowski, Harry" uniqKey="Rakowski H" first="Harry" last="Rakowski">Harry Rakowski</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Judge, Daniel P" sort="Judge, Daniel P" uniqKey="Judge D" first="Daniel P" last="Judge">Daniel P. Judge</name><affiliation wicri:level="2"><nlm:affiliation>Division of Cardiology, Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Division of Cardiology, Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Ho, Carolyn Y" sort="Ho, Carolyn Y" uniqKey="Ho C" first="Carolyn Y" last="Ho">Carolyn Y. Ho</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Cardiovascular Division, Brigham and Women's Hospital, Boston</wicri:cityArea></affiliation></author></analytic><series><title level="j">JAMA cardiology</title><idno type="eISSN">2380-6591</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Californie</li><li>Hollande-Méridionale</li><li>Maryland</li><li>Massachusetts</li><li>Nouvelle-Galles du Sud</li><li>Ontario</li><li>Île-de-France</li></region><settlement><li>Paris</li><li>Rotterdam</li><li>Sydney</li><li>Toronto</li></settlement><orgName><li>Université de Sydney</li><li>Université de Toronto</li></orgName></list><tree><noCountry><name sortKey="Day, Sharlene M" sort="Day, Sharlene M" uniqKey="Day S" first="Sharlene M" last="Day">Sharlene M. Day</name></noCountry><country name="États-Unis"><region name="Massachusetts"><name sortKey="Cirino, Allison L" sort="Cirino, Allison L" uniqKey="Cirino A" first="Allison L" last="Cirino">Allison L. Cirino</name></region><name sortKey="Abrams, Dominic J" sort="Abrams, Dominic J" uniqKey="Abrams D" first="Dominic J" last="Abrams">Dominic J. Abrams</name><name sortKey="Caleshu, Colleen" sort="Caleshu, Colleen" uniqKey="Caleshu C" first="Colleen" last="Caleshu">Colleen Caleshu</name><name sortKey="Harris, Stephanie" sort="Harris, Stephanie" uniqKey="Harris S" first="Stephanie" last="Harris">Stephanie Harris</name><name sortKey="Ho, Carolyn Y" sort="Ho, Carolyn Y" uniqKey="Ho C" first="Carolyn Y" last="Ho">Carolyn Y. Ho</name><name sortKey="Judge, Daniel P" sort="Judge, Daniel P" uniqKey="Judge D" first="Daniel P" last="Judge">Daniel P. Judge</name><name sortKey="Lakdawala, Neal K" sort="Lakdawala, Neal K" uniqKey="Lakdawala N" first="Neal K" last="Lakdawala">Neal K. Lakdawala</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Michels, Michelle" sort="Michels, Michelle" uniqKey="Michels M" first="Michelle" last="Michels">Michelle Michels</name></region></country><country name="Italie"><noRegion><name sortKey="Olivotto, Iacopo" sort="Olivotto, Iacopo" uniqKey="Olivotto I" first="Iacopo" last="Olivotto">Iacopo Olivotto</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name></region></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Semsarian, Christopher" sort="Semsarian, Christopher" uniqKey="Semsarian C" first="Christopher" last="Semsarian">Christopher Semsarian</name></region><name sortKey="Ingles, Jodie" sort="Ingles, Jodie" uniqKey="Ingles J" first="Jodie" last="Ingles">Jodie Ingles</name></country><country name="Canada"><region name="Ontario"><name sortKey="Rakowski, Harry" sort="Rakowski, Harry" uniqKey="Rakowski H" first="Harry" last="Rakowski">Harry Rakowski</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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