Nevenbevindingen bij genoomdiagnostiek

The increasing use of comprehensive genomic testing raises the likelihood of encountering unsolicited findings. These are (likely) pathogenic variants that predispose to a disease unrelated to the clinical question, but might be of relevantceto the patient and/or their family members. Any healthcare professional requesting genomic testing may encounter unsolicited findings. It is generally recommended to report unsolicited findings only if it is considered medically actionable, unless the patient has explicitly opted out of receiving such information. Ultimately, the healthcare professional requesting the genetic test, is responsible for deciding whether to communicate the finding to the patient.

In this paper, we present two fictional case studies to illustrate the dilemmas that may arise in the context of unsolicited findings. This will help doctors when choosing genomic testing and weighing the expected benefits against potential harms. It also enables them to better inform patients about the possibility and implications of unsolicited findings.

Conflict of interest and financial support: potential conflicts of interest have been reported for this article.