Regulatory and Reimbursement Issues Related to Genomic Testing Services

  • Jan A. NowakEmail author
  • Anthony Sireci


The development of advanced genetic sequencing technologies and genomic testing services challenges the existing regulatory framework for clinical laboratory testing. These challenges will demand a refinement and adaptation on the part of laboratories, professional and accrediting organizations, vendors and manufacturers, and regulatory agencies of existing standards and practices to accommodate novel genomic technologies and clinical applications. The value of existing concepts of laboratory-developed tests and companion diagnostics will need revision in order to accommodate genomic sequencing assays. This chapter addresses these issues and the notion that, to some extent, these novel technologies will challenge established definitions of disease and the foundations of medical practice.


Regulation Reimbursement CLIA FDA LDT Companion diagnostics CPT GSP MAAA PAMA 


  1. 1.
    42 CFR 493.1253 – Standard: Establishment and verification of performance specifications, and 42 CFR 493.1254 – Standard: Maintenance and function checks.Google Scholar
  2. 2.
    Proposal to address CPT coding for Genomic Sequencing Procedures, Association for Molecular Pathology Economic Affairs Committee, March 2013.Google Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pathology and Laboratory MedicineRoswell Park Comprehensive Cancer CenterBuffaloUSA
  2. 2.Pathology and Cell BiologyColumbia University Medical CenterNew YorkUSA

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