Document Detail

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.
MedLine Citation:
PMID:  23321621     Owner:  NLM     Status:  MEDLINE    
The development of new massive sequencing techniques has now made it possible to significantly reduce the time and costs of whole-genome sequencing (WGS). Although WGS will soon become a routine testing tool, new ethical issues have surfaced. In light of these concerns, a systematic review of papers published by expert authors on IC or specific ethical issues related to IC for WGS analysis in the clinical setting has been conducted using the Pubmed, Embase and Cochrane Library databases. Additionally, a search was conducted for international ethical guidelines for genetic studies published by scientific societies and ethical boards. Based on these documents, a minimum set of information to be provided to patients in the IC form was determined. Fourteen and seven documents from the database search and from scientific societies, respectively, were selected. A very high level of consistency between them was found regarding the recommended IC form content. Pre-test counselling and general information common to all genetic tests should be included in the IC form for WGS for diagnostic purposes, but additional information addressing specific issues on WGS are proposed, such as a plan for the ethical, clinically oriented return of incidental findings. Moreover, storage of additional information for future use should also be agreed upon with the patient in advance. Recommendations for WGS studies in the clinical setting concerning both the elements of information and the process of obtaining the IC as well as how to handle the results obtained are proposed.
Carmen Ayuso; José M Millán; Marta Mancheño; Rafael Dal-Ré
Publication Detail:
Type:  Journal Article     Date:  2013-01-16
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-09-19     Completed Date:  2014-05-01     Revised Date:  2014-10-12    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1054-9     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Genetic Testing / ethics*,  legislation & jurisprudence,  standards
Genome, Human*
Informed Consent*
Mental Competency*
Sequence Analysis, DNA / ethics*
Standard of Care
Comment In:
Eur J Hum Genet. 2014 Jan;22(1):7   [PMID:  23674173 ]
Eur J Hum Genet. 2014 Jan;22(1):6   [PMID:  23674174 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
Next Document:  Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound finding...