Simulating the Genetics Clinic of the Future - whether undergoing whole-genome sequencing shapes professional attitudes

Minna Brunfeldt*, Harriet Teare, Daan Schuurbiers, Daniela Steinberger, Elianne Gerrits, Marleena Vornanen, Nine Knoers, Helena Kaariainen, Terry Vrijenhoek

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    12 Downloads (Pure)


    Whole-genome sequencing (WGS) can provide valuable health insight for research participants or patients. Opportunities to be sequenced are increasing as direct-to- consumer (DTC) testing becomes more prevalent, but it is still fairly unusual to have been sequenced. We offered WGS to fourteen professionals with pre-existing familiarity with an interest in human genetics - healthcare, science, policy and art. Participants received a hard drive containing their personal sequence data files (.BAM,. gvcf), without further explanation or obligation, to consider how experiencing WGS firsthand might influence their professional attitudes. We performed semi-structured pre- and post-sequencing interviews with each participant to identify key themes that they raised after being sequenced. To evaluate how their experience of the procedure evolved over time, we also conducted a questionnaire to gather their views 3 years after receiving their genomic data. Participants were generally satisfied with the experience (all 14 participants would choose to participate again). They mostly decided to participate out of curiosity (personal) and to learn from the experience (professional). Whereas most participants slightly developed their original perspective on genetic data, a small selection of them radically changed their views over the course of the project. We conclude that personal experience of sequencing provides an interesting alternative perspective for experts involved in leading, planning, implementing or researching genome sequencing services. Moreover, the personal experience may provide professionals with a better understanding of the challenges visitors of the Genetics Clinic of the Future may face.

    Originele taal-2English
    Pagina's (van-tot)247-256
    Aantal pagina's10
    TijdschriftJournal of community genetics
    Nummer van het tijdschrift2
    StatusPublished - apr.-2022

    Citeer dit