Title of Presentation
“How to deal with unsolicited findings in research?”
Date and Place
Peggy Manders is an epidemiologist and Works as a manager at the Radboud Biobank, the biobank facility of the Radboudumc (www.radboudbiobank.nl). She is also employed at the department of Human Genetics where she is, among other things, responsible for developing informed consent procedures for various biobanks and the progress of the Biobank Hereditary Colorectal Cancer and the Biobank Intellectual Disability. She is the representative of the Radboudumc for Parelsnoer Institute (PSI, www.pareslnoer.org) and member of the COREON, a committee that wants to achieve a good climate for observational medical research in the Netherlands.
Whole exome sequencing (WES) is increasingly be performed for diagnostic purposes at the Radboudumc. WES leads to a higher diagnostic yield but also unsolicited findings which may be of clinical relevance, but unrelated to the disorder that is under investigation. As part of WES implementation as a diagnostic test, a multidisciplinary committee of experts has been installed to deal with unsolicited findings. A patient information leaflet and informed consent concerning participation in genetic research were developed. Participants have the opportunity to choose for 1) single candidate gene testing or 2) WES, the latter including the possibility of detecting unsolicited findings. In case of an unsolicited finding, the multidisciplinary committee will discuss whether this result should be returned to the investigator/physician involved in the study and provide information on further examination/screening. In our centre, WES has been performed in 1,500 individuals for diagnostic purposes. In 2.3% of all analyses a potential unsolicited finding was detected. In 1.4% there has been a return of the unsolicited finding to the requesting clinical geneticist. The main reason for not returning findings is the uncertainty about the pathogenicity of a mutation and the absence of treatment options for late onset diseases with reduced penetrance. The next step is to find out what research subjects think of the documents and procedures used in diagnostics. Furthermore, the number of WES studies performed for research purposes should be assessed plus the number of potential secondary findings that have been discussed by the expert committee.