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Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance

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Next Generation Sequencing

Abstract

Clinical laboratories are beginning to use next-generation sequencing (NGS) for the testing of patient samples. This chapter addresses regulatory and professional standards that have been developed and are under consideration to assure the quality of NGS testing in the clinical setting. The major topics addressed include test validation, quality control procedures, proficiency testing, and reference materials. Considerations for the establishment of performance specifications, such as accuracy, precision, analytic sensitivity, and analytic specificity, for NGS applications are discussed. Emphasis is placed on aspects unique to NGS, such as the reliance on an “informatics” pipeline to process the platform-generated data and challenges to the establishment and use of reference materials, quality control procedures, and proficiency testing. While there are significant benefits to clinical testing achievable through the use of NGS, the complexities associated with its use in the clinical laboratory are significant and will require an evolving set of standards to keep up with the rapidly advancing technology.

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Acknowledgment

We wish to thank Dr. Nazneen Aziz for the information related to the activities of the College of American Pathologists.

The work was supported in part by an appointment of Dr. Amy S. Gargis to the Research Participation Program at the Centers for Disease Control and Prevention administered by the Oak Ridge Institute for Science and Education through an interagency agreement between the US Department of Energy and CDC.

Disclaimer: The findings and conclusions in this chapter are those of the authors and do not necessarily represent the views of the Centers for Disease Control and Prevention/The Agency for Toxic Substances and Disease Registry.

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Authors and Affiliations

  1. Division of Laboratory Science and Standards, Centers for Disease Control and Prevention, 1600 Clifton Road, NE, G-23, Atlanta, 30329, GA, USA

    Ira M. Lubin Ph.D., FACMG, Lisa Kalman Ph.D. & Amy S. Gargis Ph.D.

  2. Oak Ridge Institute for Science and Education, Oak Ridge, TN, USA

    Amy S. Gargis Ph.D.

Authors
  1. Ira M. Lubin Ph.D., FACMG
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  2. Lisa Kalman Ph.D.
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  3. Amy S. Gargis Ph.D.
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Corresponding author

Correspondence to Ira M. Lubin Ph.D., FACMG .

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Editors and Affiliations

  1. , Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, 77030, Texas, USA

    Lee-Jun C. Wong

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Lubin, I.M., Kalman, L., Gargis, A.S. (2013). Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance. In: Wong, LJ. (eds) Next Generation Sequencing. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7001-4_14

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