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The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study

European Journal of Human Genetics volume 29, pages 930–939 (2021)Cite this article

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Abstract

Unsolicited findings (UFs) in clinical exome sequencing are variants that are unrelated to the initial clinical question the DNA test was performed for, but that may nonetheless be of medical relevance to patients and/or their families. There is limited knowledge about the impact of UFs on patients’ lives. In order to characterise patient perceptions of the impact of an UF, we conducted 20 semi-structured face-to-face interviews with patients and/or their relatives to whom an UF predisposing to oncological disease (n = 10) or predisposing to a cardiac condition (n = 10) had been disclosed. We have identified a psychological, physical and financial aspect of the perceived impact of UF disclosure in exome sequencing. Actionability, understanding, patients’ pre-test health and social context were influencing factors, according to our participants. Although most expressed considerable psychological impact initially, all but one participant would choose to undergo genetic testing again, knowing what they know now. These novel findings provide insight in patients’ perspectives on the impact of UF disclosure. Our study highlights the value of incorporating patients’ perceptions in UF disclosure policy.

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Acknowledgements

We would like to thank all participants for sharing their experiences and thoughts. Also, we thank the clinicians who contacted their patients to ask for participation in this study. Finally, we express our gratitude for the work of the local expert committee on unsolicited findings in genetic testing.

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Authors and Affiliations

  1. Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands

    Vyne van der Schoot, Han G. Brunner & Yvonne Arens

  2. Department of Human Genetics, Donders Centre for Neuroscience, Radboud university medical center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands

    Simone J. Viellevoije, Femke Tammer, Han G. Brunner, Helger G. Yntema & Anke J. M. Oerlemans

  3. IQ healthcare, Radboud Institute for Health Sciences, Radboud university medical center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands

    Simone J. Viellevoije & Anke J. M. Oerlemans

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  1. Vyne van der Schoot
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  2. Simone J. Viellevoije
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Correspondence to Vyne van der Schoot or Anke J. M. Oerlemans.

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Schoot, V.v.d., Viellevoije, S.J., Tammer, F. et al. The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study. Eur J Hum Genet 29, 930–939 (2021). https://doi.org/10.1038/s41431-021-00834-9

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