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. 2013 Oct;21(10):1054-9.
doi: 10.1038/ejhg.2012.297. Epub 2013 Jan 16.

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

Carmen Ayuso  1 , José M Millán, Marta Mancheño, Rafael Dal-Ré
Affiliations

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

Carmen Ayuso et al. Eur J Hum Genet. 2013 Oct.

Abstract

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.

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Figures

Figure 1
Figure 1
Results of the Pubmed-Medline and Embase databases searches.
Figure 2
Figure 2
Distribution of “papers” over time, from 2006 (when WGS began to be conducted) to June 2012. Articles about unspecific genetic tests are depicted in black. WGS studies are depicted in grey. Grid bars represent those papers carried out by societies and bold bars represent those papers published by experts.
See this image and copyright information in PMC

Comment in

  • Reply to Townsend et al.
    Ayuso C, Millán JM, Mancheño M, Dal-Ré R. Ayuso C, et al. Eur J Hum Genet. 2014 Jan;22(1):7. doi: 10.1038/ejhg.2013.95. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674173 Free PMC article. No abstract available.
  • Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing.
    Townsend A, Rousseau F, Friedman J, Adam S, Lohn Z, Birch P. Townsend A, et al. Eur J Hum Genet. 2014 Jan;22(1):6. doi: 10.1038/ejhg.2013.94. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674174 Free PMC article. No abstract available.

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