The Indispensable Role of Professional Judgment in Genomic Medicine

• Autores: Amy L. McGuire, Laurence B. McCullough, James P. Evans
• Localización: JAMA: the journal of the American Medical Association, ISSN 0098-7484, Vol. 309, Nº. 14, 2013, págs. 1465-1466
• Idioma: inglés
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• Resumen

  • Whole-genome sequencing and whole-exome sequencing (WGS/WES) have become increasingly affordable and accessible to individuals. There are currently 3 main pathways through which a person can receive WGS/WES: as a research participant in a genomic study; through a direct-to-consumer personal genome company; or as part of clinical care. In the research context, the extent to which findings from WGS/WES are communicated to study participants and used to inform their clinical care is a topic of much debate, but guidelines suggest that investigators may have an obligation to offer at least some results to study participants.1