Ann Lab Med.  2016 Nov;36(6):513-520. 10.3343/alm.2016.36.6.513.

Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

  • 1Centers for Disease Control and Prevention, Atlanta, GA, USA.
  • 2Frederick National Laboratory for Cancer Research, National Cancer Institute, Gaithersburg, MD, USA.
  • 3National Institute of Standards and Technology, Gaithersburg, MD, USA.
  • 4Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.


Characterized reference materials (RMs) are needed for clinical laboratory test development and validation, quality control procedures, and proficiency testing to assure their quality. In this article, we review the development and characterization of RMs for clinical molecular genetic tests. We describe various types of RMs and how to access and utilize them, especially focusing on the Genetic Testing Reference Materials Coordination Program (Get-RM) and the Genome in a Bottle (GIAB) Consortium. This review also reinforces the need for collaborative efforts in the clinical genetic testing community to develop additional RMs.


Reference materials; Genetic tests; DNA sequencing; Next generation sequencing; Molecular oncology; Quality control; Assay validation; Genomics; Genome sequencing
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