20 December 2022

Healthcare professionals are increasingly uncovering ‘unsolicited findings’ when performing a genetic test. Unsolicited findings are disease-causing genetic variants unrelated to the initial question for which the genetic test was performed. This increase has led to a worldwide debate on policy regarding unsolicited findings. How should a clinical geneticist counsel a patient about what may be found? And which unsolicited findings should be disclosed to patients?

To gain insight in clinical geneticists' experiences with unsolicited findings, Vyne van der Schoot and Anke Oerlemans conducted an interview study among twenty clinical geneticists from seven Dutch genetic centers. Together with colleagues from Radboudumc and Maastricht UMC+, they recently published their results in the Journal of Genetic Counseling.

Interviewees indicated that discussing unsolicited findings is an integral part of pre-test counseling. However, they expressed doubts about in how much detail they should share information with patients. For them, the individual patient's capacity to understand information should be leading. These results suggest that pretest counseling may be tailored to the patient’s needs.

Medical actionability is the possibility to act on an unexpected finding. While medical actionability is broadly accepted as an important criterion for the disclosure of unsolicited findings, geneticists experienced substantial uncertainty regarding this concept. This study underscored the need for further demarcation of what exactly constitutes medical actionability. Installation of an expert panel could support healthcare professionals in deciding what variants to disclose.

The results of this study have contributed to national policy guidelines on unsolicited findings. The group plans to evaluate the implementation of these guidelines in 2023.


Vyne van der Schoot, Carlijn Damsté, Helger G. Yntema, Han G. Brunner, Anke J. M. Oerlemans. Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: “A great technology creating new dilemmas”. J Genet Couns. 2022 Nov 11. doi: 10.1002/jgc4.1647. Online ahead of print.

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