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Mol Cell Probes ; 45: 70-78, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31059777

RESUMO

Clinical genetic testing in cardiovascular genetic medicine has undergone rapid changes. Next generation sequencing allows simultaneous testing of all genes associated with any cardiovascular phenotype, and molecular genetic testing for multiple genes has become the standard of practice for cardiovascular medicine. While technical and clinical advantages of multigenic approaches are evident, informed consent procedures have become more complex and challenging to the physician ordering such a test, particularly due to the increased potential for unsolicited findings. Based on the EuroGentest "Guidelines for diagnostic next-generation sequencing" we here propose a set of disease-specific requirements for obtaining informed consent for NGS-based genetic testing in a cardiogenetic clinic. We can show that it is often not feasible to obtain informed consent for every detail and suggest, in such cases, to reach general consent beforehand and discuss specific implications of unsolicited findings after the test results are available.


Assuntos
Doenças Cardiovasculares/diagnóstico , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Doenças Cardiovasculares/genética , Diagnóstico Precoce , Testes Genéticos/legislação & jurisprudência , Humanos , Consentimento Livre e Esclarecido , Análise de Sequência de DNA
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