Next-generation sequencing in diagnostics: development of normative perspectives for the return of results

Although next generation sequencing technologies are now well-embedded into clinical care, there is still debate as to which results should be returned to patients and how much control patients should have over which results they receive. This research will provide critical guidance in the ethical and social challenges associated with the return of results from NGS performed in the diagnostic setting. To address this challenge, this study will involve three empirical components: i) an online survey of laboratory reporting practices, ii) interviews with clinicians to explore their practices in obtaining consent and also returning results from NGS to patients, and iii) a content analysis of consent forms used by diagnostic laboratories to obtain consent from patients for NGS. The findings from these studies will be used, along with a normative ethical analysis, in order to develop recommendations for the return of results to patients. In addition, a template consent form will be developed to assist laboratories in obtaining informed consent from patients prior to NGS. These combined research techniques, which include consultations with a range of different stakeholders, will help bridge gaps in knowledge, create a deeper understanding of current issues from a variety of perspectives, and lead to refinements in guidelines which will provide benefit to patients, clinicians and laboratories working within the field.