This was posted to the NSGC list serve- I thought you all might be interested, especially members of the former Laboratory Committee, who raised many related issues. here is the CDC link http://www.cdc.gov/mmwr/PDF/rr/rr5806.pdf Kyna Byerly June 15, 2009 - The Centers for Disease Control and Prevention (CDC) today released recommendations for best practices in genetic testing for heritable diseases and conditions. Published online June 12 in the Morbidity and Mortality Weekly Report, the recommendations are the first issued by the federal government regarding the accuracy and proper use of DNA-based genetic testing. The CDC, together with the Centers for Medicare & Medicaid Services (CMS), has worked with the Clinical Laboratory Improvement Advisory Committee (CLIAC) to review quality concerns related to molecular genetic testing. The newly released report reflects CLIAC recommendations of "good laboratory practices for ensuring the quality of molecular genetic testing for heritable diseases and conditions." A significant concern in molecular genetic testing is erroneous results. This report cites previous studies that show more errors originating during preanalytic and postanalytic phases of testing than during the analytic process itself. Inappropriate test selection underlies many preanalytic errors - a study of testing for the adenomatous polyposis coli gene found that testing was unwarranted in 17% of the cases. During the analytic phase, errors in specimen handling and analysis have been reported in 0.06% to 0.12% of nearly 100,000 tests studied. Postanalytic errors commonly reflect problems in preparing reports and interpreting results. Studies have shown that a major contributor to these problems is poor understanding among healthcare providers of the limitations of molecular genetic tests and their proper interpretation. The present recommendations drew on information from government reports, scientific publications, the CMS CLIA database, studies carried out by professional groups, state programs, and a variety of laboratory directories and databases. Members of the CLIAC Genetic Testing Good Laboratory Practices Workgroup evaluated factors in genetic testing likely to affect quality and identified areas in need of quality assurance guidelines to comply with current CLIA requirements. The practices recommended relate specifically to testing for heritable diseases. Preanalytic Testing Phase Guidelines In the preanalytic testing phase, the report lists the following guidelines for laboratories in providing information about molecular genetic tests to those who use their services: * Selection of appropriate tests; * Information on proper methods for collecting, handling, transporting, and submitting specimens; * Patient information needed for proper testing and reporting of results; * Indication of potential implications of the results for family members; and * Availability of laboratory consultations regarding the issues mentioned earlier. Additional concerns addressed by the workgroup in the preanalytic phase were informed consent, test requests, specimen handling, and establishing policies to assess and correct problems. Analytic Testing Phase Guidelines The analytic phase of molecular genetic testing has already been regulated by CLIA requirements to "establish or verify the analytic performance of all nonwaived tests and test systems before introducing them for patient testing." Beyond adherence to the more general CLIA requirements, recommendations for molecular and genetic testing focus on the assurance of validity and reliability in the tests and in the proper interpretation of test results. The recommendations list 5 guidelines regarding establishing and verifying performance specifications for each genetic test: * "Conduct a review of available scientific studies and pertinent references * Define appropriate patient populations for which the test should be performed * Select the appropriate test methodology for the disease or condition being evaluated * Establish analytic performance specifications and determine quality control procedures using the appropriate number, type, and variety of samples * Ensure that test results and their implications can be interpreted for an individual patient or family and that the limitations of the test are defined and reported." The recommendations for the analytic phase devote significant attention to control procedures and emphasize the importance of proficiency testing in evaluating laboratory competence (as well as in providing education for lab personnel). Postanalytic Testing Phase Guidelines Recommendations for the postanalytic testing phase focus on the content, completeness, and interpretation of test reports. In addition, CLIA requires that test reports, records, and even the tested specimens be retained for specified periods, ranging from "as long as possible" for tested specimens to 2 years for test reports and 10 years for pathology test reports. These recommendations recognize the potential importance of these materials for family members and for future diagnostic use as medical technology and knowledge progress. Finally, the report speaks to issues of confidentiality, laboratory personnel, and the "quality management system" approach - a system widely adopted internationally but less common in the United States. Development of a quality management system is likely to play an important role in the ability of labs to receive test referrals from international sources, as well as in improving their quality management. Although CLIAC recommendations have now been made, the authors emphasize that they are in no sense complete: "Continual monitoring of the practice and test performance of molecular genetic tests is needed to evaluate the effectiveness of these recommendations and to develop additional guidelines for good laboratory practices," they conclude. Morb Mortal Wkly Rep. 2009;58(RR-6):1-37. Kyna Byerly, MS, CGC Clinical Coordinator Missouri Telehealth Network 2401 Lemone Industrial Blvd Columbia, MO 65212 573-882-7444 [log in to unmask] http://telehealth.muhealth.org <http://telehealth.muhealth.org/>