title: Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
abstract: Eliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic medicine. A valid instrument should be easily understood without extensive pretest counseling while still faithfully eliciting patients' preferences.
  
  
  
  We conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role that preferences should play. We then developed and refined a draft instrument and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities.
  
  
  
  Patients preferred filtering of secondary genomic results to avoid information overload and to avoid learning what the future holds, among other reasons. Patients preferred to make autonomous choices about which categories of results to receive and to have their choices applied automatically before results are returned to them and their clinicians. The Preferences Instrument for Genomic Secondary Results (PIGSR) is designed to be completed by patients or research participants without assistance and to guide bioinformatic analysis of genomic raw data. Most participants wanted to receive all secondary results, but a significant minority indicated other preferences.
  
  
  
  Our novel instrument-PIGSR-should be useful in a wide variety of clinical and research settings.Genet Med 19 3, 337-344.
authors: Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, USA.|Institute for Bioethics, Health Policy, and Law, University of Louisville, Louisville, Kentucky, USA.
authors: Kyle B
authors: 0000-0002-8550-9724
authors: KB
authors: Brothers
authors: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
authors: Kelly M
authors: KM
authors: East
authors: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
authors: Whitley V
authors: WV
authors: Kelley
authors: Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
authors: M Frances
authors: 0000-0002-5087-9768
authors: MF
authors: Wright
authors: Saint Louis University School of Law and College for Public Health & Social Justice, St. Louis, Missouri, USA.
authors: Matthew J
authors: 0000-0001-8509-6678
authors: MJ
authors: Westbrook
authors: Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, USA.
authors: Carla A
authors: CA
authors: Rich
authors: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
authors: Kevin M
authors: KM
authors: Bowling
authors: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors: Edward J
authors: 0000-0002-9212-4101
authors: EJ
authors: Lose
authors: Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors: E Martina
authors: 0000-0003-1264-3428
authors: EM
authors: Bebin
authors: Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors: Shirley
authors: 0000-0003-1545-7268
authors: S
authors: Simmons
authors: Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, USA.
authors: John A
authors: JA
authors: Myers
authors: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.|Department of Genetics, Stanford University, Stanford, California, USA.
authors: Greg
authors: G
authors: Barsh
authors: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
authors: Richard M
authors: RM
authors: Myers
authors: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
authors: Greg M
authors: GM
authors: Cooper
authors: Research Support Services, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors: Jill M
authors: JM
authors: Pulley
authors: Institute for Bioethics, Health Policy, and Law, University of Louisville, Louisville, Kentucky, USA.
authors: Mark A
authors: MA
authors: Rothstein
authors: Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors: Ellen Wright
authors: 0000-0002-0308-4110
authors: EW
authors: Clayton
mesh_terms: D000328:Adult; D000368:Aged; D002755:Choice Behavior; D032882:Comprehension; D005260:Female; D017144:Focus Groups; D005820:Genetic Testing / Q000941:ethics / Q000295:instrumentation / Q000379:methods*; D016678:Genome / Q000941:ethics / Q000235:genetics; D023281:Genomics / Q000941:ethics / Q000379:methods; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D033162:Incidental Findings; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010290:Parents / Q000523:psychology; D057240:Patient Preference / Q000523:psychology; D017422:Sequence Analysis, DNA; D011795:Surveys and Questionnaires