Secondary and incidental findings in genetics : ethical issues

Abstract

Additional findings are a type of result in genomics that is found secondary to the main result. These can be divided into two categories; secondary findings and incidental findings. While incidental findings are found by accident, secondary findings have to be actively looked for during the analysis of the genetic data. Whether secondary findings should be looked for or not is, however, still heavily debated. In research, searching for secondary findings is usually encouraged as they might advance scientific and medical knowledge, however, most agree researchers have no duty to disclose these results to the study participants. In a clinical setting, genetic tests should also be as targeted as possible for various reasons, including the fact that the scientific knowledge about this subject is not robust enough to justify integrating non-targeted genomic testing into the healthcare system. As such, for the time being, the search for secondary findings should be confined to pilot and evaluation studies to make sure that any potential system is built respecting the ethical principles of proportionality, respect for autonomy, justice, and solidarity. Respect for the tested individuals’ right not to know also has to be taken into account by incorporating a robust, well-designed informed consent process.