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Curr Genet Med Rep. 2015;3(4):166-176. Epub 2015 Aug 25.

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.

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Department of Pediatrics and Genetics, School of Medicine, The University of North Carolina at Chapel Hill, 326A MacNider, Chapel Hill, NC 27599-7240 USA.
Department of Genetics, The University of North Carolina at Chapel Hill, 120 Mason Farm Road, Chapel Hill, NC 27599-7264 USA.


This paper summarizes the current controversies surrounding the identification and disclosure of "incidental" or "secondary" findings from genomic sequencing and the implications for genetic counseling practice. The rapid expansion of clinical sequencing has influenced the ascertainment and return of incidental findings, while empiric data to inform best practices are still being generated. Using the North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) research project as an example, we discuss the implications of different models of consent and their impact on patient decisions.


Clinical sequencing; Genetic counseling; Incidental findings; Informed consent; Medical actionability; Secondary findings

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