Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice

Curr Genet Med Rep. 2015;3(4):166-176. doi: 10.1007/s40142-015-0075-9. Epub 2015 Aug 25.

Abstract

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.

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

Publication types

  • Review