Ethical Approaches in Secondary Findings Report from Exome Sequencing Analysis

Forough Taheri, Nekoo Panahi, Mahsa M Amoli, Amirhossein Sangi Nasab Lahijan, Akram Goharifar. Ethical Approaches in Secondary Findings Report from Exome Sequencing Analysis. GenoMed Connect. 29 Aug 2024. https://doi.org/10.69709/GenomC.2024.197183

Abstract

In Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) approaches, incidental findings (IFs) or more precisely secondary findings (SFs) have indicated controversial reports. To address SFs issues, well-known guidelines have been released such as the versions of the American College of Medical Genetics and Genomics (ACMG); however, when, to whom, why, and how these SFs should be reported are the key questions that need to be addressed ethically. The current review aimed to investigate the papers with a focus on the ethical approaches regarding IFs/SFs. In this comprehensive review, we searched the PubMed database for related publications, and 58 papers were selected as the narrowest reports. There was a positive tendency to disclose the SFs by the professionals and an enthusiasm in patients to be informed about all of their genetic reports. Several studies have addressed that guidelines could not cover all aspects of IFs/SFs ethically and medically. The main focus of these studies was the modernized opt-in informed consent according to some items including prenatal/post-natal or pediatric/adulthood issues. Other foci are genetic variant clinical actionability, cancer status, population-based backgrounds, time- and cost-effectiveness, the education level of subjects and clinicians, and the combinations of pharmacogenomics findings to introduce medicinal treatments and personalized prescriptions leading to more suitable healthcare. Altogether, concerns remain about the ethical approaches in the SFs; however, the present review introduced remarkable solutions which will be ethically and practically possible to be utilized. This review also found that recent reports are concentrated on the high-volume Exome Sequencing tests of subjects from biobanks and healthcare centers.

Keywords: incidental findings; secondary findings; exome sequencing; acmg recommendations; ethics; genetic