Reference Materials for Genetic Testing: The Get-RM Programme and Genome in a Bottle Consortium
This review describes the development, characterisation, and availability of reference materials for clinical molecular genetic testing, focusing on the NIST-coordinated Genetic Testing Reference Materials programme and the Genome in a Bottle Consortium. Well-characterised reference materials are critical for test validation, quality control, and proficiency testing, yet gaps persist for many clinically important genes and variants. The authors call for expanded collaborative efforts to develop additional RMs as genomic testing enters mainstream diagnostics.
The original study
Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships.
- Authors
- Kalman LV, Datta V, Williams M, Zook JM, Salit ML, Han JY
- Journal
- Annals of laboratory medicine
- Type
- Journal Article, Review
- PMID
- 27578503
Original 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.