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

Autor: Minna Brunfeldt, Harriet Teare, Daan Schuurbiers, Daniela Steinberger, Elianne Gerrits, Marleena Vornanen, Nine Knoers, Helena Kääriäinen, Terry Vrijenhoek
Přispěvatelé: Center for Population, Health and Society, Faculty of Social Sciences
Rok vydání: 2022
Předmět:
Zdroj: Journal of community genetics, 13(2), 247-256. SPRINGER HEIDELBERG
ISSN: 1868-6001
1868-310X
DOI: 10.1007/s12687-021-00561-0
Popis: 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.
Databáze: OpenAIRE
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