Ann Lab Med 2016; 36(6): 513-520
Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships
Lisa V. Kalman, Ph.D.1, Vivekananda Datta, M.D.2, Mickey Williams, Ph.D.2, Justin M. Zook, Ph.D.3, Marc L. Salit, Ph.D.3, and Jin-Yeong Han, M.D.4
Centers for Disease Control and Prevention1, Atlanta, GA, USA; Frederick National Laboratory for Cancer Research2, National Cancer Institute, Gaithersburg, MD, USA; National Institute of Standards and Technology3, Gaithersburg, MD, USA; Department of Laboratory Medicine4, Dong-A University College of Medicine, Busan, Korea
Corresponding author: Jin-Yeong Han 
Department of Laboratory Medicine, Dong-A University College of Medicine, 26 Daesingongwon-ro, Seo-gu, Busan 49201, Korea 
Tel: +81-51-240-5323
Fax: +81-51-255-9366
Received: March 18, 2016; Revised: May 8, 2016; Accepted: July 18, 2016; Published online: November 1, 2016.
© Korean Society for Laboratory Medicine. All rights reserved.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: Reference materials, Genetic tests, DNA sequencing, Next generation sequencing, Molecular oncology, Quality control, Assay validation, Genomics, Genome sequencing

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