A genetic counselor's guide to using next-generation sequencing in clinical practice

  • Facio F
  • Lee K
  • O'Daniel J
  • 44


    Mendeley users who have this article in their library.
  • 13


    Citations of this article.


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.

Author-supplied keywords

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

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • Flavia M. Facio

  • Kristy Lee

  • Julianne M. O'Daniel

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free