title: Defining personal utility in genomics: A Delphi study.
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.
  
  
  OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.
authors.forename: J N
authors.initials: JN
authors.lastname: Kohler
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.
authors.forename: E
authors.identifier: http://orcid.org/0000-0002-6650-9702
authors.initials: E
authors.lastname: Turbitt
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.
authors.forename: K L
authors.initials: KL
authors.lastname: Lewis
authors.affiliation: Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington.
authors.forename: B S
authors.initials: BS
authors.lastname: Wilfond
authors.affiliation: Johns Hopkins Berman Institute of Bioethics, Baltimore, Maryland.
authors.forename: L
authors.initials: L
authors.lastname: Jamal
authors.affiliation: RTI International, Research Triangle Park, Durham, North Carolina.
authors.forename: H L
authors.initials: HL
authors.lastname: Peay
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.
authors.forename: L G
authors.initials: LG
authors.lastname: Biesecker
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.
authors.forename: B B
authors.initials: BB
authors.lastname: Biesecker
mesh_terms: D000368:Aged; D003697:Delphi Technique; D059472:Exome; D005260:Female; D015894:Genome, Human; D023281:Genomics / Q000941:ethics / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D057285:Precision Medicine / Q000941:ethics / Q000379:methods; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires; D000073359:Exome Sequencing; D000073336:Whole Genome Sequencing
keywords: Delphi; genetic testing; genomics; personal outcomes; personal utility; utility