“Is It Worth Knowing?” Focus Group Participants’ Perceived Utility of Genomic Preconception Carrier Screening

• Published in: Journal of genetic counseling Vol. 25; no. 1; pp. 135 - 145
• Main Authors: Schneider, Jennifer L., Goddard, Katrina A. B., Davis, James, Wilfond, Benjamin, Kauffman, Tia L., Reiss, Jacob A., Gilmore, Marian, Himes, Patricia, Lynch, Frances L., Leo, Michael C., McMullen, Carmit
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-02-2016; Blackwell Publishing Ltd
• Subjects: Adult; Anxiety; Attitude to Health; Barriers and facilitators; Biomedical and Life Sciences; Biomedicine; Carriers; Clinical Psychology; Consent; Counseling; Decision Making; Ethics; Fear & phobias; Female; Focus Groups; Genetic analysis; Genetic counseling; Genetic Counseling - psychology; Genetic factors; Genetic screening; Genetic Testing; Genomes; Genomic preconception carrier screening; Genomics; Gynecology; Human Genetics; Humans; Male; Medical screening; Necessity; Original Research; Parents - psychology; Patient perspectives; Perceptions; Preconception Care; Preimplantation Diagnosis - psychology; Public Health; Qualitative research; Technology; Whole genome sequencing; United States > US; Thousand Oaks California; Decision-making; Qualitative research; Whole genome sequencing; Barriers and facilitators; Focus groups; Patient perspectives; Genomic preconception carrier screening
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1007/s10897-015-9851-7

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.