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CDC Offers Guidelines for Molecular Genetic Testing

NEW YORK (GenomeWeb News) – Under a new set of recommendations for molecular genetic testing companies, the US Centers for Disease Control and Prevention said that firms should provide specific information to users of its tests, should measure certain analytic performance specifications, and should adhere to certain informed consent and specimen handling rules.

A CDC report entitled "Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions" makes proposals for best practices for many aspects of the process of genetic testing both for molecular diagnostic companies and for medical and public health professionals who evaluate lab practices and policies. These recommendations are intended for molecular genetic testing areas that are in need of guidelines for complying with CLIA requirements or are in need of additional quality assurance measures.

The expansion of molecular genetic testing in the US has led to measures to assess the quality, performance, and delivery of these services, as well as the adequacy of oversight and quality assurance areas, the CDC report notes.

"Problems that could affect patient testing outcomes that have been reported include inadequate establishment or verification of test performance specifications, inadequate personnel training or qualifications, inappropriate test selection and specimen submission, inadequate quality assurance practices, problems in proficiency testing, misunderstanding or misinterpretation of test results, and other concerns associated with one or more phases of the testing process," according to the paper.

In the preanalytic testing phase, labs should provide certain information regarding their tests in order to facilitate appropriate test selection, specimen and handling and submission, and patient care, said CDC. This information should include performance characteristics and information on analytical and clinical validity, test methods, the test's limitations, and specimen handling measures.

Performance specifications for these tests should be established that are based on an adequate number, type, and variety of samples to ensure that test results can be interpreted for specific patient conditions, the report advises.

Labs should determine analytic performance specifications for characteristics of molecular genetic tests that are not cleared or approved by the US Food and Drug Administration, including accuracy, specificity, precision, reportable range of test results for the test system, and other reportable characteristics, said CDC.

The report also outlines other recommended practices for informed consent, clinical validity, specimen management, and documentation practices, among others.