Analysis of How Geneticists Discuss Unsolicited Findings With Patients

While clinical geneticists largely agree that counseling patients or their guardians about the possibility of an unsolicited finding (UF) during sequencing-based genetic testing is important, they were unclear on how prominent this possibility should feature in counseling sessions, a new study has found. UFs include the discovery of pathogenic variants that cause disease but are not related to why the patient underwent testing in the first place — these differ from secondary findings, as those are actively sought and UFs are not. In an interview-based study appearing in the Journal of Genetic Counseling, researchers from Radboud University Medical Center asked 20 clinical genetics medical specialists or clinical genetics residents from seven Dutch genetic centers about how they discuss UFs, finding that they do mention the possibility in pretest counseling but generally don't go into much detail about them. The participants further questioned whether patients would understand the information and said they typically tailored the information they provided. Additionally, the participants noted that the criterion of 'medical actionability' for disclosing UFs was vague. In their paper, the Radboud team suggests that an expert panel be established to help support clinical geneticists determine which UFs are medically actionable.