title: Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships.
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.
authors: Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors: Lisa V
authors: LV
authors: Kalman
authors: Frederick National Laboratory for Cancer Research, National Cancer Institute, Gaithersburg, MD, USA.
authors: Vivekananda
authors: V
authors: Datta
authors: Frederick National Laboratory for Cancer Research, National Cancer Institute, Gaithersburg, MD, USA.
authors: Mickey
authors: M
authors: Williams
authors: National Institute of Standards and Technology, Gaithersburg, MD, USA.
authors: Justin M
authors: JM
authors: Zook
authors: National Institute of Standards and Technology, Gaithersburg, MD, USA.
authors: Marc L
authors: ML
authors: Salit
authors: Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr.
authors: Jin Yeong
authors: JY
authors: Han
mesh_terms: D005820:Genetic Testing / Q000592:standards*; D059014:High-Throughput Nucleotide Sequencing / Q000592:standards; D006801:Humans; D011641:Public Relations; D011786:Quality Control; D012016:Reference Values; D017422:Sequence Analysis, DNA / Q000592:standards
keywords: Assay validation; DNA sequencing; Genetic tests; Genome sequencing; Genomics; Molecular oncology; Next generation sequencing; Quality control; Reference materials