D. Joe Boone

Developing a sustainable process to provide quality control materials for genetic testing

Purpose: To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials available to the genetic testing community.Methods: Participants were selected to include experts in genetic testing and molecular diagnostics from professional organizations, government agencies, industry, laboratories, academic institutions, cell repositories, and proficiency testing (PT)/external Quality Assessment (EQA) programs. Current efforts to develop QC materials for genetic tests were reviewed; key issues and areas of need were identified; and workgroups were formed to address each area of need and to formulate recommendations and next steps.Results: Recommendations were developed toward establishing a sustainable process to improve the availability of appropriate QC materials for genetic testing, with an emphasis on molecular genetic testing as an initial step.Conclusions: Improving the availability of appropriate QC materials is of critical importance for assuring the quality of genetic testing, enhancing performance evaluation and PT/EQA programs, and facilitating new test development. To meet the needs of the rapidly expanding capacity of genetic testing in clinical and public health settings, a comprehensive, coordinated program should be developed. A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs.

How can we make laboratory testing safer

Abstract Background: Diagnostic errors occur in laboratory medicine resulting from an error or delay in diagnosis, a failure to employ indicated tests, and the use of outmoded tests. Since laboratory tests provide essential information used by physicians to make medical decisions, it is important to determine how often laboratory testing mistakes occur, whether they cause patient harm, where they are most likely to occur in the testing process, and how to prevent them from occurring. Methods: The US Quality Institute Conference in 2003 and the Institute for Quality in Laboratory Medicine in 2005 brought together providers of, users of, and payers for laboratory services to explore how working together they could help to reduce laboratory testing errors and enhance patient safety. Results and conclusions: Users of and payers for laboratory services must become partners in the laboratorys efforts to reduce laboratory testing errors and enhance patient safety. They must be linked to a laboratory information system that provides assistance in decisions on test ordering, patient preparation, and test interpretation. Laboratory quality assessment efforts need to be expanded to encompass the detection of non-analytical mistakes. Healthcare institutions need to adopt a culture of safety that is implemented at all levels of the organization. Clin Chem Lab Med 2007;45:708–11.

International genetic testing.

Significant efforts are underway in the United States and abroad to ensure the safe and effective use of genetic tests. By its very nature, the integration of genetics into clinical and public health practice is international in scope. Epidemiologic data from diverse populations in many regions of the world are being collected to determine genetic contributors to disease and which populations are at increased risk. For common genetic diseases or conditions, at-risk populations exist in many countries, and genetic testing for patients and their relatives is anticipated to be widely available in numerous laboratories (e.g., cystic fibrosis carrier screening in the Caucasian population). In contrast, for rare genetic conditions, testing may be available from very few laboratories, necessitating specimen and patient referrals across national boundaries. International referral of specimens occurs, particularly for testing associated with rare diseases. Therefore, it is important for clinical practitioners, laboratorians, and those who monitor and regulate genetic testing to consider the implications of such referrals in terms of test requisition, specimen transportation and handling, reporting practices, quality assurance, and ethical, social, and legal standards.

Assessing Laboratory Employee Competence

E the correlation between laboratory personnel standards and the accuracy and reliability of laboratory results was one of the original studies called for in the Clinical Laboratory Improvement Amendments of 1988 (CLIA).1 A review of the research literature, which was published in 1992, found that most published research focused on the relationship between performance in proficiency testing and the credentials of personnel employed by the participating laboratory.2 The Centers for Disease Control and Prevention funded a study by Christian and colleagues,3 which explored ways in which personnel competency was being assessed in a small group of hospital, blood bank, independent, physician office, and group practice laboratories. This study found that no consistent method was being used for competency assessment. Given the difficult task of finding a tool that measures how well an employee actually performs his or her job, it is not surprising that competency assessment remains a challenging assignment. In a recent review of the methods commonly used to assess the clinical competence of residents in internal medicine, Holmboe and Hawkins4 found no single assessment method that could successfully evaluate clinical competence. The College of American Pathologists Q-Probes study5 of the tools used by 522 institutions to assess laboratory employee competence adds

US Oversight and Regulation of Genetic Testing

• The oversight responsibilities for genetic testing in the United States (US) are shared by multiple governmental and non-governmental entities, including federal and state government agencies, healthcare payers, professional associations, and other sectors. This chapter describes: