Recommendations of the 2006 Human Variome Project meeting.

Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization-cosponsored meeting on June 20-23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations.

A novel Transformation Model© for personalized medicine laboratory systems.

The role of health system laboratories is critical to the appropriate clinical integration of personalized medicine. We conducted semistructured interviews with experts and opinion leaders representing laboratory medicine, health policy and the diagnostics industry, to examine what is known about the real-world effectiveness of health laboratories as organizations. We describe and encourage the wider use of an evidence-based, novel Transformation Model© to prepare for the future and set goals for a better health system. A collaborative approach appropriately integrates the efficiency and high-quality expertise of the health laboratory system with the transformative vision of the personalized medicine community.

How can we make laboratory testing safer?

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 laboratory's 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.

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.