Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions
Total Page：16
File Type：pdf, Size：1020Kb
Morbidity and Mortality Weekly Report www.cdc.gov/mmwr Recommendations and Reports June 12, 2009 / Vol. 58 / No. RR-6 Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions INSIDE: Continuing Education Examination department of health and human services Centers for Disease Control and Prevention MMWR The MMWR series of publications is published by the Coordinating CONTENTS Center for Health Information and Service, Centers for Disease Introduction .............................................................................. 1 Control and Prevention (CDC), U.S. Department of Health and Human Services, Atlanta, GA 30333. Background .............................................................................. 3 Suggested Citation: Centers for Disease Control and Prevention. CLIA Oversight for Molecular Genetic Testing ........................... 3 [Title]. MMWR 2009;58(No. RR-#):[inclusive page numbers]. Concerns Related to Molecular Genetic Testing ......................... 4 Centers for Disease Control and Prevention Richard E. Besser, MD Methods ................................................................................... 6 (Acting) Director Information Collection and Assessment ..................................... 6 Tanja Popovic, MD, PhD Development of CLIAC Recommendations for Good Chief Science Officer James W. Stephens, PhD Laboratory Practices in Molecular Genetic Testing ................ 6 Associate Director for Science Recommended Good Laboratory Practices ................................. 7 Steven L. Solomon, MD Director, Coordinating Center for Health Information and Service The Preanalytic Testing Phase ................................................. 7 Jay M. Bernhardt, PhD, MPH The Analytic Testing Phase .................................................... 11 Director, National Center for Health Marketing The Postanalytic Testing Phase .............................................. 18 Katherine L. Daniel, PhD Deputy Director, National Center for Health Marketing Laboratory Responsibilities Regarding Authorized Persons ..... 20 Editorial and Production Staff Ensuring Confidentiality of Patient Information ........................ 21 Frederic E. Shaw, MD, JD Personnel Qualifications, Responsibilities, Editor, MMWR Series and Competency Assessments ........................................... 21 Christine G. Casey, MD Deputy Editor, MMWR Series Considerations Before Introducing Molecular Genetic Testing Susan F. Davis, MD or Offering New Molecular Genetic Tests .......................... 25 Associate Editor, MMWR Series Teresa F. Rutledge Quality Management System Approach for Managing Editor, MMWR Series Molecular Genetic Testing ................................................. 25 David C. Johnson (Acting) Lead Technical Writer-Editor Conclusion ............................................................................. 25 Catherine B. Lansdowne, MS References ............................................................................. 25 Project Editor Appendix A ........................................................................... 30 Martha F. Boyd Lead Visual Information Specialist Appendix B ........................................................................... 33 Malbea A. LaPete Appendix C ........................................................................... 35 Stephen R. Spriggs Visual Information Specialists Kim L. Bright, MBA Continuing Education Activity ................................................ CE-1 Quang M. Doan, MBA Phyllis H. King Information Technology Specialists Editorial Board William L. Roper, MD, MPH, Chapel Hill, NC, Chairman Virginia A. Caine, MD, Indianapolis, IN David W. Fleming, MD, Seattle, WA William E. Halperin, MD, DrPH, MPH, Newark, NJ King K. Holmes, MD, PhD, Seattle, WA Deborah Holtzman, PhD, Atlanta, GA John K. Iglehart, Bethesda, MD Dennis G. Maki, MD, Madison, WI Sue Mallonee, MPH, Oklahoma City, OK Disclosure of Relationship Patricia Quinlisk, MD, MPH, Des Moines, IA CDC, our planners, and our presenters wish to disclose they have Patrick L. Remington, MD, MPH, Madison, WI no financial interests or other relationships with the manufacturers Barbara K. Rimer, DrPH, Chapel Hill, NC John V. Rullan, MD, MPH, San Juan, PR of commercial products, suppliers of commercial services, or com- William Schaffner, MD, Nashville, TN mercial supporters. Anne Schuchat, MD, Atlanta, GA Dixie E. Snider, MD, MPH, Atlanta, GA Presentations will not include any discussion of the unlabeled use of John W. Ward, MD, Atlanta, GA a product or a product under investigational use. Vol. 58 / RR-6 Recommendations and Reports 1 Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions Prepared by Bin Chen, PhD MariBeth Gagnon, MS Shahram Shahangian, PhD Nancy L. Anderson, MMSc Devery A. Howerton, PhD D. Joe Boone, PhD Division of Laboratory Systems, National Center for Preparedness, Detection, and Control of Infectious Diseases, Coordinating Center for Infectious Diseases Summary Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized as waived (from routine regulatory oversight) or nonwaived based on the complexity of the tests; tests of moderate and high complexity are nonwaived tests. Laboratories that perform molecular genetic testing are subject to the general CLIA quality systems requirements for nonwaived testing and the CLIA personnel requirements for tests of high complexity. Although many laboratories that perform molecular genetic testing comply with applicable regulatory requirements and adhere to professional practice guidelines,specific guidelines for quality assurance are needed to ensure the quality of test performance. To enhance the oversight of genetic testing under the CLIA framework,CDC and the Centers for Medicare & Medicaid Services (CMS) have taken practical steps to address the quality management concerns in molecular genetic testing,including working with the Clinical Laboratory Improvement Advisory Committee (CLIAC). This report provides CLIAC recommendations for good laboratory practices for ensuring the qual- ity of molecular genetic testing for heritable diseases and conditions. The recommended practices address the total testing process (including the preanalytic,analytic,and postanalytic phases),laboratory responsibilities regarding authorized persons,confidentiality of patient information,personnel competency,considerations before introducing molecular genetic testing or offering new molecular genetic tests,and the quality management system approach to molecular genetic testing. These recommendations are intended for laboratories that perform molecular genetic testing for heritable diseases and conditions and for medical and public health profes- sionals who evaluate laboratory practices and policies to improve the quality of molecular genetic laboratory services. This report also is intended to be a resource for users of laboratory services to aid in their use of molecular genetic tests and test results in health assessment and care. Improvements in the quality and use of genetic laboratory services should improve the quality of health care and health outcomes for patients and families of patients. Introduction be detected with molecular methods and in the spectrum of the molecular testing methods (1). As the number of molecu- Genetic testing encompasses a broad range of laboratory lar genetic tests performed for patient testing has steadily tests performed to analyze DNA, RNA, chromosomes, pro- increased, so has the number of laboratories that perform teins, and certain metabolites using biochemical, cytogenetic, molecular genetic testing for heritable diseases and condi- or molecular methods or a combination of these methods. In tions (2,3). With increasing use in clinical and public health 1992, the regulations for the Clinical Laboratory Improvement practices, molecular genetic testing affects persons and their Amendments of 1988 (CLIA) were published and began to be families in every life stage by contributing to disease diagnosis, implemented. Since that time, advances in scientific research prediction of future disease risk, optimization of treatment, and technology have led to a substantial increase both in the prevention of adverse drug response, and health assessment health conditions for which genetic defects or variations can and management. For example, preconception testing for cystic fibrosis and other heritable diseases has become stan- The material in this report originated in the Coordinating Center for Infectious Diseases, Mitchell L. Cohen, MD, Director; National Center dard practice for the care of women who are either pregnant for Preparedness, Detection, and Control of Infectious Diseases, Rima or considering pregnancy and are at risk for giving birth Khabbaz, MD, Director; and the Division of Laboratory Systems, Roberta to an infant with one of these conditions (4). DNA-based B. Carey, PhD, Acting Director. Corresponding preparer: Bin Chen, PhD, Division of Laboratory diagnostic testing often is crucial for confirming presumptive Systems, National Center for Preparedness, Detection, and Control of results from newborn screening tests, which are performed Infectious Diseases, Coordinating Center for Infectious Diseases, 1600 for approximately 95% of the 4 million infants born in the Clifton Road NE, MS G-23, Atlanta, GA 30329. Telephone: 404-498- 2228; Fax: 404-498-2215; E-mail: