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

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 professi...

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Autores principales: Brunfeldt, Minna, Teare, Harriet, Schuurbiers, Daan, Steinberger, Daniela, Gerrits, Elianne, Vornanen, Marleena, Knoers, Nine, Kääriäinen, Helena, Vrijenhoek, Terry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941039/
https://www.ncbi.nlm.nih.gov/pubmed/35084702
http://dx.doi.org/10.1007/s12687-021-00561-0
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author Brunfeldt, Minna
Teare, Harriet
Schuurbiers, Daan
Steinberger, Daniela
Gerrits, Elianne
Vornanen, Marleena
Knoers, Nine
Kääriäinen, Helena
Vrijenhoek, Terry
author_facet Brunfeldt, Minna
Teare, Harriet
Schuurbiers, Daan
Steinberger, Daniela
Gerrits, Elianne
Vornanen, Marleena
Knoers, Nine
Kääriäinen, Helena
Vrijenhoek, Terry
author_sort Brunfeldt, Minna
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-021-00561-0.
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spelling pubmed-89410392022-04-08 Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes Brunfeldt, Minna Teare, Harriet Schuurbiers, Daan Steinberger, Daniela Gerrits, Elianne Vornanen, Marleena Knoers, Nine Kääriäinen, Helena Vrijenhoek, Terry J Community Genet Original Article 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-021-00561-0. Springer Berlin Heidelberg 2022-01-27 2022-04 /pmc/articles/PMC8941039/ /pubmed/35084702 http://dx.doi.org/10.1007/s12687-021-00561-0 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Brunfeldt, Minna
Teare, Harriet
Schuurbiers, Daan
Steinberger, Daniela
Gerrits, Elianne
Vornanen, Marleena
Knoers, Nine
Kääriäinen, Helena
Vrijenhoek, Terry
Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
title Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
title_full Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
title_fullStr Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
title_full_unstemmed Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
title_short Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
title_sort simulating the genetics clinic of the future — whether undergoing whole-genome sequencing shapes professional attitudes
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941039/
https://www.ncbi.nlm.nih.gov/pubmed/35084702
http://dx.doi.org/10.1007/s12687-021-00561-0
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