title: "Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.
abstract: As genome sequencing technology advances, research is needed to guide decision-making about what results can or should be offered to patients in different clinical settings. We conducted three focus groups with individuals who had prior preconception genetic testing experience to explore perceived advantages and disadvantages of genome sequencing for preconception carrier screening, compared to usual care. Using a discussion guide, a trained qualitative moderator facilitated the audio-recorded focus groups. Sixteen individuals participated. Thematic analysis of transcripts started with a grounded approach and subsequently focused on participants' perceptions of the value of genetic information. Analysis uncovered two orientations toward genomic preconception carrier screening: "certain" individuals desiring all possible screening information; and "hesitant" individuals who were more cautious about its value. Participants revealed valuable information about barriers to screening: fear/anxiety about results; concerns about the method of returning results; concerns about screening necessity; and concerns about partner participation. All participants recommended offering choice to patients to enhance the value of screening and reduce barriers. Overall, two groups of likely users of genome sequencing for preconception carrier screening demonstrated different perceptions of the advantages or disadvantages of screening, suggesting tailored approaches to education, consent, and counseling may be warranted with each group.
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA. Jennifer.L.Schneider@kpchr.org.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Schneider
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: Katrina A B
authors.initials: KA
authors.lastname: Goddard
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: James
authors.initials: J
authors.lastname: Davis
authors.affiliation: Seattle Children's Research Institute, Treuman Katz Center for Pediatric Bioethics, Seattle, WA, USA.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Wilfond
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: Tia L
authors.initials: TL
authors.lastname: Kauffman
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: Jacob A
authors.initials: JA
authors.lastname: Reiss
authors.affiliation: Northwest Permanente, Kaiser Permanente Northwest, Portland, OR, USA.
authors.forename: Marian
authors.initials: M
authors.lastname: Gilmore
authors.affiliation: Northwest Permanente, Kaiser Permanente Northwest, Portland, OR, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Himes
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: Frances L
authors.initials: FL
authors.lastname: Lynch
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Leo
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Ave, Portland, OR, 97227, USA.
authors.forename: Carmit
authors.initials: C
authors.lastname: McMullen
mesh_terms: D000328:Adult; D001294:Attitude to Health; D003376:Counseling; D003657:Decision Making; D005260:Female; D017144:Focus Groups; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing; D023281:Genomics; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology*; D016742:Preconception Care; D019836:Preimplantation Diagnosis / Q000523:psychology*
keywords: Barriers and facilitators; Decision-making; Focus groups; Genomic preconception carrier screening; Patient perspectives; Qualitative research; Whole genome sequencing