31 May

PhD conferral Vyne van der Schoot

Supervisor: Prof. Dr. H.G. Brunner

Co-supervisors: Dr. H.G. IJntema (Radboud universitair medisch centrum), Dr. A.J.M. Oerlemans (Radboud universitair medisch centrum)

Keywords: unsolicited findings, secondary findings, next-generation sequencing, genetic testing

"Unsolicited findings in next-generation sequencing: hide or seek?"

Unsolicited findings in genetic testing are disease causing variants which are unintentionally found. This study showed that a predisposition for a treatable condition can be demonstrated in 2.7% of healthy individuals, while a predisposition was found by chance in <1% of people who received genetic testing. People who had been confronted with an unsolicited finding said not to perceive high impact of the finding. Genetic counselors struggled with which information to disclose about unsolicited findings pre-test. Uncertainty related to unsolicited findings, both empirical and what is right to do, was expressed both by patients and their families as well as by clinical geneticists. This thesis concludes that more knowledge about the meaning of unsolicited findings is needed. Genetic counselors and patients should decide together which findings should be disclosed, led by a dialogue in pre-test counseling.

Language: Nederlands

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