Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: “A great technology creating new dilemmas”

Vyne van der Schoot*, Carlijn Damsté, Helger G. Yntema, Han G. Brunner, Anke J.M. Oerlemans

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)
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Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The emerging consensus is that some UFs from genetic testing should be disclosed, but recommendations on UF disclosure generally leave room for variation in practice. This study aimed to explore clinical geneticists' views on and experiences with UFs during pretest counseling and UF disclosure. We interviewed 20 certified clinical genetics medical specialists and clinical genetics residents, working in 7 Dutch genetic centers. Participants indicated that discussing the probability of detecting UFs is an integral part of pretest counseling and informed consent. However, they expressed doubts about the degree to which this discussion should occur and about what information they should share with patients. They argued that the contents of their counseling should depend on the individual patient's capacity to understand information. These results endorse the importance of tailored pretest counseling alongside informed consent for optimal genetic consultations. While “medical actionability” is broadly accepted as an important criterion for the disclosure of UFs, participants experienced substantial uncertainty regarding this concept. This study underscores the need for further demarcation of what exactly constitutes medical actionability. Installation of an expert panel to help healthcare professionals decide what variants to disclose will support them when facing the dilemmas presented by UFs.

Original languageEnglish
Pages (from-to)387-396
Number of pages10
JournalJournal of Genetic Counseling
Issue number2
Early online date11 Nov 2022
Publication statusPublished - Apr 2023

Bibliographical note

Funding Information:
We express our gratitude to all participants for engaging in this study by sharing their experiences and thoughts. We would also like to thank the clinicians who contacted their peers for participation in this study. Our special thanks are extended to Dr. E. A. Loehrer for proofreading our manuscript.

Publisher Copyright:
© 2022 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.


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