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CDC Recommendations for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders


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New recommendations to advance the quality of biochemical genetic testing and newborn screenings are published online today in the CDC MMWR Recommendations and Reports. The guidance, entitled “Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders,” addresses considerations for laboratory and healthcare professionals important for achieving optimal health outcomes, reducing morbidity and mortality, and improving the public’s health when newborn screening and biochemical genetic tests are performed. These considerations include factors to consider before introducing new tests; quality management for test method validation, test performance, appropriate test result reporting and interpretation; and qualifications required of laboratory personnel who perform these tests and provide laboratory services.

Inherited metabolic disorders are a large class of genetic diseases that collectively affect at least 1 in 1,500 persons in the United States. Biochemical genetic testing and newborn screening tests are essential for the early recognition and timely intervention for these disorders to improve health outcomes. The increasing number of inherited metabolic diseases included in newborn screening programs has presented continuing challenges to ensuring the quality of performance and delivery of testing services, not only for public health and other newborn screening laboratories, but also for biochemical genetic testing laboratories that perform subsequent diagnostic testing. As technology and knowledge advances increase the demand for accurate and reliable laboratory testing for screening, diagnosis, classification, and management of inherited metabolic diseases, guidelines are necessary for ensuring quality laboratory practices.

The new recommendations are available through the CDC’s MMWR [PDF - 720KB] Web site.

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