Journal of Genetic Counseling

, Volume 23, Issue 4, pp 455–462

A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice

  • Flavia M. Facio
  • Kristy Lee
  • Julianne M. O’Daniel
Next Generation Genetic Counseling

DOI: 10.1007/s10897-013-9662-7

Cite this article as:
Facio, F.M., Lee, K. & O’Daniel, J.M. J Genet Counsel (2014) 23: 455. doi:10.1007/s10897-013-9662-7

Abstract

Advances in next-generation sequencing (NGS) and rapid reductions in cost have increased the use of such technologies in research and clinical practice. However, many barriers exist to translating NGS for routine clinical use, including issues related to the interpretation of results, and the potential to find results that are secondary or incidental to the specific application of NGS. Nonetheless, NGS has become sufficiently affordable to be offered by several clinical laboratories, and increasingly it is becoming an attractive and viable option for clinicians and patients. This article reviews current NGS technologies, highlighting the information genetic counselors need to know to make informed-decisions about utilizing NGS in the clinic, and underscoring the impact of this new testing modality on the practice of genetic counseling.

Keywords

Genetic counseling Next-generation sequencing Whole genome sequencing Whole exome sequencing 

Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Flavia M. Facio
    • 1
  • Kristy Lee
    • 2
  • Julianne M. O’Daniel
    • 2
  1. 1.KensingtonUSA
  2. 2.Department of GeneticsUniversity of North Carolina at Chapel HillChapel HillUSA