Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

作者: Carmen Ayuso , José M Millán , Marta Mancheno , Rafael Dal-Ré , None

DOI: 10.1038/EJHG.2012.297

关键词:

摘要: The development of new massive sequencing techniques has now made it possible to significantly reduce the time and costs whole-genome (WGS). Although WGS will soon become a routine testing tool, ethical issues have surfaced. In light these concerns, systematic review papers published by expert authors on IC or specific related for analysis in clinical setting been conducted using Pubmed, Embase Cochrane Library databases. Additionally, search was international guidelines genetic studies scientific societies boards. Based documents, minimum set information be provided patients form determined. Fourteen seven documents from database societies, respectively, were selected. A very high level consistency between them found regarding recommended content. Pre-test counselling general common all tests should included diagnostic purposes, but additional addressing are proposed, such as plan ethical, clinically oriented return incidental findings. Moreover, storage future use also agreed upon with patient advance. Recommendations concerning both elements process obtaining well how handle results obtained proposed.

参考文章(22)
John Aach, Joseph V. Thakuria, Jason Bobe, George M. Church, Jeantine E. Lunshof, Misha Angrist, Daniel B. Vorhaus, Margret R. Hoehe, Personal genomes in progress: from the Human Genome Project to the Personal Genome Project Dialogues in clinical neuroscience. ,vol. 12, pp. 47- 60 ,(2010)
Eline M Bunnik, Maartje HN Schermer, A Cecile JW Janssens, The role of disease characteristics in the ethical debate on personal genome testing BMC Medical Genomics. ,vol. 5, pp. 4- 4 ,(2012) , 10.1186/1755-8794-5-4
Sarah E Ali-Khan, Abdallah S Daar, Cheryl Shuman, Peter N Ray, Stephen W Scherer, None, Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatric Research. ,vol. 66, pp. 357- 363 ,(2009) , 10.1203/PDR.0B013E3181B0CBD8
C Netzer, C Klein, J Kohlhase, C Kubisch, New challenges for informed consent through whole genome array testing Journal of Medical Genetics. ,vol. 46, pp. 495- 496 ,(2009) , 10.1136/JMG.2009.068015
Chee-Seng Ku, Mengchu Wu, David N Cooper, Nasheen Naidoo, Yudi Pawitan, Brendan Pang, Barry Iacopetta, Richie Soong, Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis. Expert Review of Molecular Diagnostics. ,vol. 12, pp. 159- 173 ,(2012) , 10.1586/ERM.11.95
A Thorogood, BM Knoppers, WJ Dondorp, GMWR de Wert, Whole‐genome sequencing and the physician Clinical Genetics. ,vol. 81, pp. 511- 513 ,(2012) , 10.1111/J.1399-0004.2012.01868.X
D. F. Ransohoff, M. J. Khoury, Personal genomics: information can be harmful. European Journal of Clinical Investigation. ,vol. 40, pp. 64- 68 ,(2010) , 10.1111/J.1365-2362.2009.02232.X
R. H. Sijmons, I. M. Van Langen, J. G. Sijmons, A Clinical Perspective on Ethical Issues in Genetic Testing Accountability in Research. ,vol. 18, pp. 148- 162 ,(2011) , 10.1080/08989621.2011.575033
Daniel G MacArthur, Challenges in clinical genomics. Genome Medicine. ,vol. 4, pp. 43- 43 ,(2012) , 10.1186/GM342