• MeSH
• diagnostické techniky molekulární normy   MeSH
• genetické testování normy   MeSH
• odborná způsobilost normy   MeSH
• průzkumy a dotazníky MeSH
• zajištění kvality zdravotní péče MeSH
• Publikační typ
• zprávy MeSH

• Konspekt
• Obecná genetika. Obecná cytogenetika. Evoluce
• NLK Obory
• genetika, lékařská genetika
• diagnostika

The report presents data on the quality of human genetic testing and the proficiency of those that carry out such tests. Intended for professional public.; This report presents the results of a survey of over 800 genetic testing laboratory directors in 18 OECD countries. It provides the first detailed overview of the availability and extent of molecular genetic testing across OECD member countries. The survey allowed the OECD to compare practices in individual countries in order to inform international action in setting standards and developing guidelines for practice. Based on the survey results, the report puts forward recommendations for action for better quality assurance and proficiency of molecular genetic testing. It shows, for example, that requirements for licensing and accreditation/certification of diagnostic molecular genetic testing laboratories have not penetrated OECD countries to a high degree or with any consistency. Considerable variations exist in mechanisms of licensing, certification and accreditation, including the standards by which tests are performed, results are reported, and the qualifications for laboratory personnel.Table of Content : Foreword Summary -Introduction -Study population -Growth, configuration and organisation of genetic testing services -Close collaboration between clinical and laboratory services -Technology -Referral systems and gatekeeping arrangements -Funding and uptake of genetic tests -Geographical disparity in the range of genetic tests available -The growth of genetic testing networks -Handling of samples and data -Risk management -Determinants of laboratory personnel competence -References Chapter 1. Quality Assurance in Molecular Genetic Testing: Results of a Survey of 18 Countries -Introduction -Methods --Steering committee --Study population --Survey development --Validation of the survey instrument --Contact of potential laboratory directors --Prevention of duplicate entries --Calculation of result reporting and QA best practice indices --Statistical analysis -Results --Study population --Laboratory setting --Personnel qualifications --Specimens --Types of testing being offered --Number of specimens accessioned --Methods used --Reporting practices --Informed consent and confidentiality --Licensing and proficiency testing participation --Patented tests --Quality assurance practices of the laboratories Chapter 2. Transborder Flow and Rare Diseases -Introduction -Background information -Summary of survey results --Dimension of transborder flow -Countries receiving samples -Current practice --Bivariate analysis of the transborder flow --Multivariate analysis of the transborder flow --Discussion -Dimension of transborder flow -Regulatory environment -Current practice --Conclusions --Improving availability of rare-disease testing --Promoting quality testing --Improving access to rare-disease testing Chapter 3. Report Writing -Introduction --The reporting quality score -Survey results: analysis and discussion. --Respondents not issuing reports --Range of scores --Factors influencing reporting quality score -Conclusions -References Chapter 4. Consent, Storage and Confidentiality -Introduction: critical issues --Storage --Confidentiality --Informed consent --Survey results, analysis and discussion -Laboratory setting --Confidentiality -Conclusions -References Chapter 5. Licensing, Accreditation, Certification and Proficiency Testing/External Quality Asses sment -Introduction -The licensing and accreditation section of the survey -Definitions -Survey results, analysis and discussion --Licensing. --Accreditation --Proficiency testing/external quality assessment programmes -Barriers to participation in PT schemes -Barriers to certification/accreditation. -Conclusions and re

Obsahuje bibliografii

Francouzské a anglické resumé