Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships.
10.3343/alm.2016.36.6.513
- Author:
Lisa V KALMAN
1
;
Vivekananda DATTA
;
Mickey WILLIAMS
;
Justin M ZOOK
;
Marc L SALIT
;
Jin Yeong HAN
Author Information
1. Centers for Disease Control and Prevention, Atlanta, GA, USA.
- Publication Type:Review
- Keywords:
Reference materials;
Genetic tests;
DNA sequencing;
Next generation sequencing;
Molecular oncology;
Quality control;
Assay validation;
Genomics;
Genome sequencing
- MeSH:
Genetic Testing/*standards;
High-Throughput Nucleotide Sequencing/standards;
Humans;
Public Relations;
Quality Control;
Reference Values;
Sequence Analysis, DNA/standards
- From:Annals of Laboratory Medicine
2016;36(6):513-520
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.