Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues

• Published in: Journal of medical ethics 2015-04, Vol.41 (4), p.317-321
• Main Authors: Hallowell, Nina, Hall, Alison, Alberg, Corinna, Zimmern, Ron
• Format: Article
• Language: English
• Subjects: Bioethics; Disclosure; Disclosure of information; DNA sequencing; Ethical aspects; Ethics; Exome; Feedback; Genetic Research - ethics; Genetic Testing; Genetics; Genome, Human; Genomes; Genomics; Humans; Incidental Findings; Molecular Sequence Data; Nucleotide sequencing; Patients; Truth Disclosure
• ISSN: 0306-6800; 1473-4257
• DOI: 10.1136/medethics-2013-101996

The introduction of new sequencing technologies whole-genome sequencing (WGS) and whole-exome sequencing (WES) that are much less finely targeted than previous genetic tests has resulted in ethical debate about what should be done with clinically significant findings that may arise during the sequencing process. In this piece we argue that, in addition to whether the finding has been intentionally sought or arises incidentally, the ethical issues concerning what should be done with WES and WGS findings are also influenced by whether sequencing occurs in a clinical or research setting. We argue that decisions about the disclosure of WGS and WES findings generated in the clinical context are much less ethically contentious than decision making about the feedback of research results. We conclude by calling for greater transparency about the purpose of sample collection, more explicit protocols for transitioning between research and clinical contexts and patients and research participants to be warned of the potential for incidental findings to be generated, their potential significance and the actions that might be taken as a result.