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. 2024 Mar;12(3):e2341.
doi: 10.1002/mgg3.2341. Epub 2024 Feb 17.

Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child

Candice Cornelis  1   2 , Aad Tibben  3 , Eva Brilstra  1 , Ineke Bolt  4 , Marieke van Summeren  5 , Nine Knoers  1   6 , Annelien L Bredenoord  2   7
Affiliations

Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child

Candice Cornelis et al. Mol Genet Genomic Med. 2024 Mar.

Abstract

Background: Counseling for whole-exome sequencing (WES) could benefit from aligning parents' pre- and post-disclosure attitudes. A few studies have qualitatively compared parents' pre- and post-disclosure attitudes toward receiving WES results for their child in a diagnostic setting. This study explored these attitudes in the context of children with a developmental delay.

Methods: Semi-structured interviews were conducted with parents (n = 27) of 16 children undergoing diagnostic WES in trio-analysis, both before and after receiving results.

Results: Three key insights emerged. First, the distinction between hoping and expecting was relevant for shaping parents' experiences with receiving results related to the primary indication. Second, parents of young children whose development of autonomous capacities was uncertain sometimes found themselves in a situation resembling a Catch-22 when confronted with decisions about unsolicited findings (UFs): an important reason for consenting to WES was to gain a better picture of how the child might develop, but in order to make responsible choices about UFs, some ideas of their child's development is needed. Third, default opt-ins and opt-outs helped parents fathom new kinds of considerations for accepting or declining UFs in different categories, thereby aiding decision-making.

Conclusion: Results from this study are relevant for counseling and policy development.

Keywords: children; ethics; genomic sequencing; return of results; unsolicited findings.

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Conflict of interest statement

The authors declare no conflict of interest.

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References

    1. Berg, J. S. , Khoury, M. J. , & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genetics in Medicine, 13(6), 499–504. - PubMed
    1. Bos, W. , & Bunnik, E. M. (2022). Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands. Molecular Genetics & Genomic Medicine, 10(3), e1882. - PMC - PubMed
    1. Botkin, J. R. , Belmont, J. W. , Berg, J. S. , Berkman, B. E. , Bombard, Y. , Holm, I. A. , Levy, H. P. , Ormond, K. E. , Saal, H. M. , Spinner, N. B. , Wilfond, B. S. , & McInerney, J. D. (2015). Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. The American Journal of Human Genetics, 97(1), 6–21. - PMC - PubMed
    1. Braun, V. , & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101.
    1. Bredenoord, A. L. , De Vries, M. C. , & van Delden, H. (2014). The right to an open future concerning genetic information. The American Journal of Bioethics, 14(3), 21–23. - PubMed

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