A Primer on Genetic Testing

Authors

  • Carolyn M. Constantin RNC, PhD,

    Corresponding author
    1. Carolyn Constantin, RNC, PhD, is an ORISE Research Fellow at the Centers for Disease Control and Prevention in the Division of Laboratory Services, focusing on communication and education issues involving genetic testing.
    Search for more papers by this author
  • Andrew Faucett MS, CGC,

    1. Andrew Faucett, MS, CGC, is the Genomics and Public Health Program Director in the Department of Human Genetics at Emory University School of Medicine and an ORISE Research Fellow at the Centers for Disease Control and Prevention.
    Search for more papers by this author
  • Ira M. Lubin PhD

    1. Ira M. Lubin, PhD, is a board-certified geneticist at the Centers for Disease Control and Prevention with extensive experience addressing quality assurance issues in laboratory practice.
    Search for more papers by this author

Carolyn Constantin, RNC, PhD, 4770 Buford Highway, NE MS-G23, Atlanta, GA 30341. E-mail: cconstantin@cdc.gov

Abstract

Use of genetic tests in the clinical practice setting is a current reality, and an increasing number of patients are asking about and requesting genetic testing. The push to translate genetic research findings and technological innovations into clinical practice will continue as our understanding of the genetic basis of disease increases. Special consideration is required when ordering genetic tests, beyond that of other laboratory tests, and an understanding of the unique aspects involved will help optimize clinical outcomes. The purpose of this primer is to provide a basic understanding of genetic testing, discuss current issues related to the use of tests, and outline practical steps for critically using genetic tests in clinical practice.

Ancillary