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CDC Planning Guidelines for Genetic Testing Labs

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The Centers for Disease Control and Prevention is currently developing guidelines for labs that provide biochemical genetic testing (BGT) and newborn screening (NBS) for inherited metabolic disorders, as well as broader guidelines for molecular genetic testing (MGT), a CDC representative told the Secretary's Advisory Committee on Genetics, Health, and Society on Tuesday.

Some of the guidelines are based on CDC Clinical Laboratory Improvement Advisory Committee recommendations developed in early 2010 that are aimed at labs providing diagnostic and monitoring testing services. Those are expected to be released in 2011, Bin Chen, of CDC's Office of Surveillance, Epidemiology, and Laboratory Services, told SACGHS.

Chen also said that CLIAC is developing broader good lab practices (GLP) guidelines that "will help to improve the quality of laboratory genetic testing to enhance the oversight for genetic testing … and improve the test outcomes for patients to receive genetic testing."

For the specific BGT and NBS guidance, CDC is currently working with the Centers for Medicare and Medicaid Services and the Food and Drug Administration. For the broader molecular genetic testing guidelines, CDC is currently involved in developing information sheets for labs, health professionals, patients, and consumers.

In addition to labs performing all of these tests, the GLP guidelines are aimed at makers of in vitro diagnostics, users of lab services, organizations and professional societies that set standards, and federal and state agencies.

These guidelines will cover pre-analytical and post-analytical practices, Chen said.

The pre-analytical practices covered include information that is provided to users of lab services, informed consent, test requests, systems assessment, and specimen submission, handling, and referral.

Post-analytical practices covered include the retention of records and specimens and assessment of post-analytic systems. Chen said that for MGT and BGT, specimens should be kept for as long as possible, with certain exceptions, and NBS specimen retention should be subject to federal, state, and local requirements. Reports from MGTs should be retained for at least 25 years, and reports specifically from BGTs that indicate genotypes should be kept for at least 21 years, according to Chen.

The guidelines also will cover personnel qualifications for lab directors, technical supervisors, and clinical consultants. In addition, some of the guidelines will cover performance, such as ways to ensure adequate verification of analytic performance, the numbers, type, and variety of samples used, and documentation practices for clinical validity.

There also will be guidelines for specific analytic issues for BGT and NBS that will cover reagents, standards and reference materials, supplies, equipment, calibration, and proficiency testing.

Certain informed consent goals for MGT and BGT will also be detailed in the guidelines. Under these, labs should provide users with the information needed to make informed decisions, but obtaining informed consent for patient testing generally should not be the responsibility of labs, unless it is specifically mandated.

Newborn screening will have different guidelines, Chen said, including the aim of achieving parental and provider education for NBS programs regardless of the consent requirements, and a guideline stating that new tests that do not meet specific requirements should require explicit consent.

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