Incidental or secondary findings : a patient perspective on additional genetic results

Incidental or secondary findings (ISFs) are currently among the most debated topics in the domain of genetic testing. These additional results are a side effect of the rapidly evolving technology of Next Generation Sequencing (NGS), which analyzes a patient’s whole exome or genome. ISFs exceed the primary diagnostic question and reveal (initially) unsought-for health risks. Various guidelines have been published on how to handle these ISFs (Green et al., 2013). However, while health care professionals have diligently been designing recommendations, one voice has remained remarkably silent in this debate, i.e. the voice of the patient himself who is actually confronted with the possibility of ISFs. As such, the current recommendations on ISFs face the risk of not being adjusted to the perspective of one of the most important stakeholders, and hence, of being inefficient for actual practice. To fill this scientific gap, we set up a qualitative study and interviewed patients with a Mendelian disease about their experience with NGS and their ideas about the possibility of ISFs. An Interpretative Phenomenological Analysis was used to consider the data and to study some central concepts of the phenomenological tradition. This way, the medical focus on disease was transcended and we aimed for a profound understanding of lived experiences of (anticipated) illness. We investigated how the possibility of additional genetic predispositions was contextualized in patients’ personal lifeworld and how it affected their sense of self and personhood. Simultaneously, we looked for the attributed meaning processes towards this additional information. Which concerns and preferences do patients raise towards ISFs? Are ISFs considered as valuable knowledge and as an opportunity for action and control? Or do they, as a source of uncertainty, cause fear and worries? By answering these questions, we introduced a patient perspective into the current debate and we pursued an experience-based comprehension of this additional genetic information, as primordial grounds for future guidelines and practice. Reference: Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013; 15(7), 565-574