title: Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.
abstract: The purpose of this study was to develop a family genomic laboratory report designed to communicate genome sequencing results to parents of children who were participating in a whole genome sequencing clinical research study. Semi-structured interviews were conducted with parents of children who participated in a whole genome sequencing clinical research study to address the elements, language and format of a sample family-directed genome laboratory report. The qualitative interviews were followed by two focus groups aimed at evaluating example presentations of information about prognosis and next steps related to the whole genome sequencing result. Three themes emerged from the qualitative data: (i) Parents described a continual search for valid information and resources regarding their child's condition, a need that prior reports did not meet for parents; (ii) Parents believed that the Family Report would help facilitate communication with physicians and family members; and (iii) Parents identified specific items they appreciated in a genomics Family Report: simplicity of language, logical flow, visual appeal, information on what to expect in the future and recommended next steps. Parents affirmed their desire for a family genomic results report designed for their use and reference. They articulated the need for clear, easy to understand language that provided information with temporal detail and specific recommendations regarding relevant findings consistent with that available to clinicians.
authors.affiliation: Penn State Hershey College of Medicine, Hershey, Pennsylvania.
authors.forename: Heather
authors.initials: H
authors.lastname: Stuckey
authors.affiliation: Geisinger Genomic Medicine, Danville, Pennsylvania.
authors.forename: Janet L
authors.initials: JL
authors.lastname: Williams
authors.affiliation: Geisinger Genomic Medicine, Danville, Pennsylvania.
authors.forename: Audrey L
authors.initials: AL
authors.lastname: Fan
authors.affiliation: Geisinger Genomic Medicine, Danville, Pennsylvania.
authors.forename: Alanna Kulchak
authors.initials: AK
authors.lastname: Rahm
authors.affiliation: Center for Health Research, Danville, Pennsylvani.
authors.forename: Jamie
authors.initials: J
authors.lastname: Green
authors.affiliation: SimulConsult, Inc., Chestnut Hill City, Massachusetts.
authors.forename: Lynn
authors.initials: L
authors.lastname: Feldman
authors.affiliation: Chase Group, Ltd, Traverse, Michigan.
authors.forename: Michele
authors.initials: M
authors.lastname: Bonhag
authors.affiliation: Virginia Tech, Blacksburg, Virginia.
authors.forename: Doris T
authors.initials: DT
authors.lastname: Zallen
authors.affiliation: SimulConsult, Inc., Chestnut Hill City, Massachusetts.
authors.forename: Michael M
authors.initials: MM
authors.lastname: Segal
authors.affiliation: Geisinger Genomic Medicine, Danville, Pennsylvania.
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
mesh_terms: D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D017144:Focus Groups; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010290:Parents / Q000523:psychology; D010817:Physician-Patient Relations / Q000941:ethics*; D011379:Prognosis; D036301:Qualitative Research; D058028:Research Report / Q000639:trends*; D011795:Surveys and Questionnaires; D009626:Terminology as Topic
keywords: genomics; health literacy; laboratory reports; patient communication; shared decision making