Incidental Findings from Clinical Genome-Wide Sequencing: A Review
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There are several unresolved challenges associated with the clinical application of genome-wide sequencing technologies. One of the most discussed issues is incidental findings (IF), which are defined as discoveries made as a result of genetic testing that are unrelated to the indication for the test. The discussion surrounding IF began in the context of research, which we have used to frame consideration of IF in the clinical context. There is growing consensus that analytically valid and medically actionable IF should be offered to patients, but whether and to what extent clinicians should disclose other kinds of IF is debated. While others have systematically reviewed the literature concerning genetic IF, previous reviews focus on ethical and research-related issues and do not consider the implications for the genetic counseling profession specifically. This review discusses the practical considerations, ethical concerns and genetic counseling issues related to IF, with a particular focus on clinical genome-wide sequencing. To date, the bulk of the literature with respect to IF in the clinical context consists of commentaries, reviews and case reports. There is a need for more empirical studies to provide a foundation for institutional protocols and evidence-based clinical practice standards.
KeywordsIncidental finding Secondary finding Whole genome sequencing Whole exome sequencing Genetic counseling Clinical genetics Return of results Sequencing Genomic medicine Personalized medicine
We would like to thank APOGEE-Net/CanGèneTest Research and Knowledge Network on Genetic Health Services and Policy. We would also like to thank Dr. Jehannine Austin for her careful reading of the manuscript. We have no conflict of interest to disclose.
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