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Molecular Genetic Testing
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MMWR R&R Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, June 12, 2009. Vol. 58, No. RR-6 | [PDF Version]

Background

With the increasing use of genetic tests in healthcare services, concern has been raised regarding the adequacy of regulatory oversight and quality assurance measures in the area of molecular genetics laboratory testing. Since 1997, CDC, in collaboration with the Centers for Medicare & Medicaid Services (CMS), the Food and Drug Administration (FDA), and other federal agencies, has been working with stakeholder groups and organizations to promote the quality of genetic testing and improve the appropriate use of genetic tests in healthcare. Currently, laboratories performing molecular genetic testing are subject to the general requirements for high complexity testing under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations. While promoting high quality molecular genetic testing, additional voluntary guidance for good laboratory practices is needed to improve the quality of test performance and enhance the oversight of genetic testing under the current regulatory framework.

In 2009, CDC published the guideline "Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions" as a MMWR Recommendations and Reports publication. The recommendations in this guideline were developed by the Clinical Laboratory Improvement Advisory Committee (CLIAC) and may, in certain instances, exceed current CLIA regulations. The recommendations were published to promote quality testing, reduce testing errors, and enhance patient safety.

Purpose

The guidance included in the MMWR addresses considerations for clinical and laboratory professionals that are important for achieving patient benefits and avoiding medical mismanagement when molecular genetic tests are used. These include:

  • ensuring proper test method selection and test performance,
  • ensuring appropriate test results reporting, interpretation and use,
  • factors to consider before introducing new molecular genetic tests, and
  • qualifications of laboratory personnel that perform molecular genetic testing.

In addition to providing guidance for laboratories, physicians and consumers of genetic testing can use the information as a guide for what they can expect from molecular genetic testing laboratories.

Consumer Links:

General Links:

For questions or comments on the content of this site, please e-mail: MolecularGT@cdc.gov


This page last reviewed: 9/17/2010
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