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Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

한진영|Lisa V. Kalman|Vivekananda Datta|Mickey Williams|Justin M. Zook|Marc L. Salit
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2016.11|Annals of Laboratory Medicine|제36권 제6호|pp. 513-520

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키워드

Reference materialsQuality controlGenomicsDNA sequencingNext generation sequencingGenetic testsMolecular oncologyAssay validationGenome sequencing
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초록

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.

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.

참고문헌 (44)

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