Self-guided management of exome and whole-genome sequencing results: changing the results return model

Genetics in Medicine

(2013)

doi:10.1038/gim.2013.35

Received: 27 November 2012
Accepted: 19 February 2013
Published online: 25 April 2013

Abstract

Researchers and clinicians face the practical and ethical challenge of if and how to offer for return the wide and varied scope of results available from individual exome sequencing and whole-genome sequencing. We argue that rather than viewing individual exome sequencing and whole-genome sequencing as a test for which results need to be “returned,” that the technology should instead be framed as a dynamic resource of information from which results should be “managed” over the lifetime of an individual. We further suggest that individual exome sequencing and whole-genome sequencing results management is optimized using a self-guided approach that enables individuals to self-select among results offered for return in a convenient, confidential, personalized context that is responsive to their value system. This approach respects autonomy, allows individuals to maximize potential benefits of genomic information (beneficence) and minimize potential harms (nonmaleficence), and also preserves their right to an open future to the extent they desire or think is appropriate. We describe key challenges and advantages of such a self-guided management system and offer guidance on implementation using an information systems approach.
Genet Med advance online publication 25 April 2013

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Keywords:

ethics; exome sequencing; return of results; self-guided management; whole-genome sequencing

Author information

Affiliations

Department of Pediatrics, University of Washington, Seattle, Washington, USA
- Joon-Ho Yu,
- Seema M. Jamal,
- Holly K. Tabor &
- Michael J. Bamshad
Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, Washington, USA
- Holly K. Tabor
Department of Genome Sciences, University of Washington, Seattle, Washington, USA
- Michael J. Bamshad