Defining personal utility in genomics: A Delphi study
- 20 February 2017
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 92 (3), 290-297
- https://doi.org/10.1111/cge.12998
Abstract
Background Individual genome sequencing results are valued by patients in ways distinct from clinical utility. Such outcomes have been described as components of “personal utility,” a concept that broadly encompasses patient‐endorsed benefits, that is operationally defined as non‐clinical outcomes. No empirical delineation of these outcomes has been reported. Aim To address this gap, we administered a Delphi survey to adult participants in a National Institute of Health (NIH) clinical exome study to extract the most highly endorsed outcomes constituting personal utility. Materials and Methods Forty research participants responded to a Delphi survey to rate 35 items identified by a systematic literature review of personal utility. Results Two rounds of ranking resulted in 24 items that represented 14 distinct elements of personal utility. Elements most highly endorsed by participants were: increased self‐knowledge, knowledge of “the condition,” altruism, and anticipated coping. Discussion Our findings represent the first systematic effort to delineate elements of personal utility that may be used to anticipate participant expectation and inform genetic counseling prior to sequencing. The 24 items reported need to be studied further in additional clinical genome sequencing studies to assess generalizability in other populations. Further research will help to understand motivations and to predict the meaning and use of results.Keywords
Funding Information
- National Human Genome Research Institute intramural research program
This publication has 18 references indexed in Scilit:
- Diagnostic Clinical Genome and Exome SequencingNew England Journal of Medicine, 2014
- Personal utility in genomic testing: is there such a thing?Journal of Medical Ethics, 2014
- Consensus measurement in Delphi studiesTechnological Forecasting and Social Change, 2012
- Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods updateGenetics in Medicine, 2012
- Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq studyEuropean Journal of Human Genetics, 2012
- A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practiceGenetics in Medicine, 2010
- Evaluating the utility of personal genomic informationGenetics in Medicine, 2009
- The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicineGenome Research, 2009
- Self-projection and the brainTrends in Cognitive Sciences, 2007
- Disclosing Individual Genetic Results to Research ParticipantsAmerican Journal of Bioethics, 2006