The Indispensable Role of Professional Judgment in Genomic Medicine

作者: Amy L. McGuire , Laurence B. McCullough , James P. Evans

DOI: 10.1001/JAMA.2013.1438

关键词:

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

参考文章(4)
Faden Rr, Beauchamp Tl, King Nm, A History and Theory of Informed Consent ,(1986)
Karina L. Brierley, Erica Blouch, Whitney Cogswell, Jeanne P. Homer, Debbie Pencarinha, Christine L. Stanislaw, Ellen T. Matloff, Adverse events in cancer genetic testing: medical, ethical, legal, and financial implications. Cancer Journal. ,vol. 18, pp. 303- 309 ,(2012) , 10.1097/PPO.0B013E3182609490
Bartha Maria Knoppers, Yann Joly, Jacques Simard, Francine Durocher, The emergence of an ethical duty to disclose genetic research results: international perspectives. European Journal of Human Genetics. ,vol. 14, pp. 1170- 1178 ,(2006) , 10.1038/SJ.EJHG.5201690
Sharon E. Plon, Diana M. Eccles, Douglas Easton, William D. Foulkes, Maurizio Genuardi, Marc S. Greenblatt, Frans B.L. Hogervorst, Nicoline Hoogerbrugge, Amanda B. Spurdle, Sean V. Tavtigian, , Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results Human Mutation. ,vol. 29, pp. 1282- 1291 ,(2008) , 10.1002/HUMU.20880