Incidental findings in exome and genome analysis: a proposal of comparison

Next-generation sequencing (NGS) has recently been implemented in biomedical diagnosis and research making now possible a deeper genetic and genomic analysis at a reduced cost. However, analysis of evidence that is based on exomes and genomes can result in the generation of data that are not relevant to the clinical question posed because some genes are associated with multiple medical conditions. These kind of information are commonly referred to as "incidental findings" (although the term is often applied inconsistently) and their management pose new ethical issues, especially regarding their disclosure to patients as well as the role of the different medical figures involved. Numerous discussions have been conducted in order to reach a consensus on how to handle such findings in line with the legal and cultural particularities of individual states and general bio-ethical principles. In this work we aim to analyze different recommendations and guidelines, referring in particular to USA and Europe (ACMG Board of Directors 2012, 2014; Matthijs G et al 2014; Ayme S et al 2013). These reports mainly focus on the pros and cons of NGS technology and potential benefits and risks for reporting of incidental findings. We want to compare these various statements and try to figure out how patient’s decision making could be better included in the testing process in order to respect its autonomy. We also emphasize the need for continued research and discussion among all stakeholders to improve our understanding of the effect that different policies have on patients, providers, and laboratories.