Review Article

Ann Lab Med 2016; 36(6): 513-520

Published online November 1, 2016

Copyright © Korean Society for Laboratory Medicine.

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

Correspondence to: 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


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