Implications Of Secondary Findings For Clinical Contexts

Deciding how best to deal with unsought diagnostic or prognostic information provided by NGS techniques is one of the key issues for viable translation of genomics into clinical practice. The ACMG list of secondary findings is one strategy for resolving the issue of how to deal with “additional” genomic findings in adult care, but it is not the only model. Examples of clinical and translational genomics from the United States, the United Kingdom, Australia, Germany, France, Japan, Singapore, Estonia, and the Canadian province of Quebec illustrate a range of approaches to secondary or additional findings. Other cases, including testing in pediatric and prenatal populations, testing for lifestyle or wellness applications, and neonatal screening illustrate the different clinical contexts in which secondary or additional findings must be considered. In each case, practical, organizational, economic, legal, and ethical aspects of dealing with secondary findings must be taken into account when deciding how best to proceed.