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Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography

European Journal of Human Genetics volume 31, pages 1387–1392 (2023)Cite this article

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Abstract

The implementation of next-generation sequencing (NGS) in diagnostic practice has stimulated ongoing debates on how to construct and perform “good” genomic care. Our multi-sited qualitative fieldwork at two large European centres for human genetics (CHGs) revealed tangible ambivalence in beliefs, norms, and actions in the enactment of NGS practices across sites stemming from differing expectations, interests, demands, and tensions. First, ambivalence was present around the boundaries of clinical diagnostic genetic care. The overlap between research and clinical work and diagnostics and screening led to ambivalence around “best” practices and norms concerning whom to offer NGS testing and how far to take testing. Secondly, the clinical value of NGS results, especially VUS and unsolicited findings, was ambivalently valued, resulting in an inconsistent approach towards these types of findings. Thirdly, ambivalence was recognized in applying guidelines in the reality of clinical practice. The ambivalence we encountered was often not made explicit or acknowledged, causing a failure to benefit from its possibility to encourage reflexivity and change. We propose to facilitate a more explicit ethical choreography [27], where ethics and science are developed iteratively whilst welcoming different perspectives and disciplines. Pulling experiences and practices of ambivalence into the light can help to understand the points of tension in the values and internal logic in care practices within the CHGs and facilitate a more informed, transparent, and consciously chosen direction for genetic care.

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Data availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to them containing information that could compromise research participant privacy/consent.

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Acknowledgements

We wish to thank all participants who generously agreed to be part of this research.

Funding

Operational Infrastructure Support Program, Victorian State Government; European Union’s Horizon 2020 research and innovation program, Grant/Award Numbers: 825903, 101057721; KU Leuven Internal Funds (C1), Grant/Award Number: 3H180506; Hilde Van Esch is a clinical investigator of FWO Vlaanderen.

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Authors and Affiliations

  1. Centre for Sociological Research, KU Leuven, Leuven, Belgium

    Janneke M. L. Kuiper & Ine Van Hoyweghen

  2. Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium

    Pascal Borry & Danya F. Vears

  3. Biomedical Ethics Research Group, Murdoch Children’s Research Institute, Parkville, VIC, Australia

    Danya F. Vears

  4. Melbourne Law School, University of Melbourne, Parkville, VIC, Australia

    Danya F. Vears

  5. Center for Human genetics, University Hospitals Leuven, Leuven, Belgium

    Hilde Van Esch

  6. Amsterdam UMC, Vrije Universiteit Amsterdam, Human Genetics and Amsterdam Public Health Research Institute, Amsterdam, The Netherlands

    Martina C. Cornel

Authors
  1. Janneke M. L. Kuiper
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  2. Pascal Borry
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  3. Danya F. Vears
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  4. Hilde Van Esch
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  5. Martina C. Cornel
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  6. Ine Van Hoyweghen
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Contributions

JMLK: Conceptualization (equal); investigation (lead); formal analysis (lead); project administration (lead); writing – original draft (lead); writing – review and editing (equal). PB: Conceptualization (equal); Supervision (equal); writing - review and editing (equal). DFV: Conceptualization (equal); Supervision (equal); writing - review and editing (equal). HVE: Project administration (supporting); resources (lead); supervision (equal); writing - review and editing (equal). MCC: Project administration (supporting); resources (lead); supervision (equal); writing - review and editing (equal). IVH: Conceptualization (equal); project administration (equal); supervision (equal); writing – original draft (supporting); writing - review and editing (equal).

Corresponding author

Correspondence to Janneke M. L. Kuiper.

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Competing interests

The authors declare no competing interests.

Ethical approval

The research was reviewed and approved by the Ethics Committee Research of the involved Belgian academic hospital on 13/5/2019, with a required amendment to the protocol to adhere to the COVID-19 measures approved on 17/6/2020. The Medical Ethics Review Committee of the Dutch Academic Medical Center exempted this study from an official approval by their committee on 17/05/2021, as they concluded the Medical Research Involving Human Subjects Act (WMO) did not apply to our study.

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Kuiper, J.M.L., Borry, P., Vears, D.F. et al. Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography. Eur J Hum Genet 31, 1387–1392 (2023). https://doi.org/10.1038/s41431-023-01436-3

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