DISCLOSING OR NOT THE UNSOLICITED FINDINGS DURING A HIGH-THROUGHPUT SEQUENCING GENETIC TEST? AN EXAMPLE OF RESEARCH TO UNDERSTAND THE WEIGHT GIVEN TO CONSENT IN DECISION-MAKING

Abstract

Objective: New genome sequencing techniques allow new approaches in medical genetics, in particular by facilitating the diagnosis of genetic diseases. However, their use also leads to unsolicited genetic findings being uncovered. This type of discovery raises ethical, legal and psychological considerations. The objective of this psychological research was to study the different positions of patients, health professionals and general public regarding the acceptability of the announcement of unsolicited findings revealed during a high-throughput sequencing genetic test.
Method: the first exploratory study aimed, through non-directive research interviews conducted with 13 patients of a medical genetics service, to understand the psychological repercussions linked to the announcement of a result of a targeted genetic test and to know the patients’ desires regarding the announcement of unsolicited findings if the test had been a high-throughput genetic test. The second study, using a quantitative methodology, aimed to identify the judgment policies of 144 patients, 94 healthcare professionals and 211 people from the general public concerning the acceptability of this type of disclosure.
Results: The cluster analyses highlighted six judgment policies as to whether or not to disclose the discovery of unsolicited anomalies: “Tell everything”, “Tell even in part”, “Tell everything unless desperate”, “Undecided”, “Do not tell” and “Do not tell if no prevention”. The participants positioned themselves differently, in particular according to the patient’s consent.
Conclusion: This research shows the variability of positioning and the importance of consent in the acceptability of the disclosure of unsolicited findings. However, one of the limitations of the study lies in the fact that in medical clinic, acceptability and acceptance may vary over time. A longitudinal study would undoubtedly afford a better understanding of the psychological progress of patients in this type of care pathway..